{"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/37739810","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=403698","label":"url"}],"paper_title":{"en":"Prevalence, Clinical Profiles, and Prognosis of Stiff-Person Syndrome in a Japanese Nationwide Survey.","ja":"Prevalence, Clinical Profiles, and Prognosis of Stiff-Person Syndrome in a Japanese Nationwide Survey."},"authors":{"en":[{"name":"Matsui Naoko"},{"name":"Tanaka Keiko"},{"name":"Ishida Mitsuyo"},{"name":"Yamamoto Yohei"},{"name":"Matsubara Yuri"},{"name":"Saika Reiko"},{"name":"Iizuka Takahiro"},{"name":"Nakamura Koshi"},{"name":"Kuriyama Nagato"},{"name":"Matsui Makoto"},{"name":"Arisawa Kokichi"},{"name":"Nakamura Yosikazu"},{"name":"Kaji Ryuji"},{"name":"Kuwabara Satoshi"},{"name":"Izumi Yuishin"}],"ja":[{"name":"松井 尚子"},{"name":"Tanaka Keiko"},{"name":"Ishida Mitsuyo"},{"name":"Yamamoto Yohei"},{"name":"Matsubara Yuri"},{"name":"Saika Reiko"},{"name":"Iizuka Takahiro"},{"name":"Nakamura Koshi"},{"name":"Kuriyama Nagato"},{"name":"Matsui Makoto"},{"name":"有澤 孝吉"},{"name":"Nakamura Yosikazu"},{"name":"梶 龍兒"},{"name":"Kuwabara Satoshi"},{"name":"和泉 唯信"}]},"description":{"en":"This study provides the current epidemiologic and clinical status of SPS in Japan. The symptom onset to the diagnosis of SPS was longer in patients with high-titer GAD65 antibodies than in those with low-titer GAD65 antibodies. The outcome of patients with SPS was generally favorable, but more aggressive immunotherapies are necessary for GAD65-positive patients with SPS.","ja":"This study provides the current epidemiologic and clinical status of SPS in Japan. The symptom onset to the diagnosis of SPS was longer in patients with high-titer GAD65 antibodies than in those with low-titer GAD65 antibodies. The outcome of patients with SPS was generally favorable, but more aggressive immunotherapies are necessary for GAD65-positive patients with SPS."},"publication_date":"2023-09-22","publication_name":{"en":"Neurology® Neuroimmunology & Neuroinflammation","ja":"Neurology® Neuroimmunology & Neuroinflammation"},"volume":"Vol.10","number":"No.6","starting_page":"e200165","ending_page":"e200165","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1212/NXI.0000000000200165"],"issn":["2332-7812"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/37142397","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=397668","label":"url"}],"paper_title":{"en":"Genetic factors affecting survival in Japanese patients with sporadic amyotrophic lateral sclerosis: a genome-wide association study and verification in iPSC-derived motor neurons from patients","ja":"Genetic factors affecting survival in Japanese patients with sporadic amyotrophic lateral sclerosis: a genome-wide association study and verification in iPSC-derived motor neurons from patients"},"authors":{"en":[{"name":"Nakamura R"},{"name":"Tohnai G"},{"name":"Nakatochi M"},{"name":"Atsuta N"},{"name":"Watanabe H"},{"name":"Ito D"},{"name":"Katsuno M"},{"name":"Hirakawa A"},{"name":"Izumi Yuishin"},{"name":"Morita M"},{"name":"Hirayama T"},{"name":"Kano O"},{"name":"Kanai K"},{"name":"Hattori N"},{"name":"Taniguchi A"},{"name":"Suzuki N"},{"name":"Aoki M"},{"name":"Iwata I"},{"name":"Yabe I"},{"name":"Shibuya K"},{"name":"Kuwabara S"},{"name":"Oda M"},{"name":"Hashimoto R"},{"name":"Aiba I"},{"name":"Ishihara T"},{"name":"Onodera O"},{"name":"Yamashita T"},{"name":"Abe K"},{"name":"Mizoguchi K"},{"name":"Shimizu T"},{"name":"Ikeda Y"},{"name":"Yokota T"},{"name":"Hasegawa K"},{"name":"Tanaka F"},{"name":"Nakashima K"},{"name":"Kaji Ryuji"},{"name":"Niwa JI"},{"name":"Doyu M"},{"name":"Terao C"},{"name":"Ikegawa S"},{"name":"Fujimori K"},{"name":"Nakamura S"},{"name":"Ozawa F"},{"name":"Morimoto S"},{"name":"Onodera K"},{"name":"Ito T"},{"name":"Okada Y"},{"name":"Okano H"},{"name":"Sobue G"},{"name":".Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS) study group"}],"ja":[{"name":"Nakamura R"},{"name":"Tohnai G"},{"name":"Nakatochi M"},{"name":"Atsuta N"},{"name":"Watanabe H"},{"name":"Ito D"},{"name":"Katsuno M"},{"name":"Hirakawa A"},{"name":"和泉 唯信"},{"name":"Morita M"},{"name":"Hirayama T"},{"name":"Kano O"},{"name":"Kanai K"},{"name":"Hattori N"},{"name":"Taniguchi A"},{"name":"Suzuki N"},{"name":"Aoki M"},{"name":"Iwata I"},{"name":"Yabe I"},{"name":"Shibuya K"},{"name":"Kuwabara S"},{"name":"Oda M"},{"name":"Hashimoto R"},{"name":"Aiba I"},{"name":"Ishihara T"},{"name":"Onodera O"},{"name":"Yamashita T"},{"name":"Abe K"},{"name":"Mizoguchi K"},{"name":"Shimizu T"},{"name":"Ikeda Y"},{"name":"Yokota T"},{"name":"Hasegawa K"},{"name":"Tanaka F"},{"name":"Nakashima K"},{"name":"梶 龍兒"},{"name":"Niwa JI"},{"name":"Doyu M"},{"name":"Terao C"},{"name":"Ikegawa S"},{"name":"Fujimori K"},{"name":"Nakamura S"},{"name":"Ozawa F"},{"name":"Morimoto S"},{"name":"Onodera K"},{"name":"Ito T"},{"name":"Okada Y"},{"name":"Okano H"},{"name":"Sobue G"},{"name":".Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS) study group"}]},"description":{"en":"Several genetic factors are associated with the pathogenesis of sporadic amyotrophic lateral sclerosis (ALS) and its phenotypes, such as disease progression. Here, in this study, we aimed to identify the genes that affect the survival of patients with sporadic ALS. We enrolled 1076 Japanese patients with sporadic ALS with imputed genotype data of 7 908 526 variants. We used Cox proportional hazards regression analysis with an additive model adjusted for sex, age at onset and the first two principal components calculated from genotyped data to conduct a genome-wide association study. We further analysed messenger RNA (mRNA) and phenotype expression in motor neurons derived from induced pluripotent stem cells (iPSC-MNs) of patients with ALS. Three novel loci were significantly associated with the survival of patients with sporadic ALS- at 5q31.3 (rs11738209, HR=2.36 (95% CI, 1.77 to 3.15), p=4.85×10), at 7p21.3 (rs2354952, 1.38 (95% CI, 1.24 to 1.55), p=1.61×10) and at 12q13.3 (rs60565245, 2.18 (95% CI, 1.66 to 2.86), p=2.35×10). and variants were associated with decreased mRNA expression of each gene in iPSC-MNs and reduced in vitro survival of iPSC-MNs obtained from patients with ALS. The iPSC-MN in vitro survival was reduced when the expression of and was partially disrupted. The rs60565245 was not associated with mRNA expression. We identified three loci associated with the survival of patients with sporadic ALS, decreased mRNA expression of and and the viability of iPSC-MNs from patients. The iPSC-MN model reflects the association between patient prognosis and genotype and can contribute to target screening and validation for therapeutic intervention.","ja":"Several genetic factors are associated with the pathogenesis of sporadic amyotrophic lateral sclerosis (ALS) and its phenotypes, such as disease progression. Here, in this study, we aimed to identify the genes that affect the survival of patients with sporadic ALS. We enrolled 1076 Japanese patients with sporadic ALS with imputed genotype data of 7 908 526 variants. We used Cox proportional hazards regression analysis with an additive model adjusted for sex, age at onset and the first two principal components calculated from genotyped data to conduct a genome-wide association study. We further analysed messenger RNA (mRNA) and phenotype expression in motor neurons derived from induced pluripotent stem cells (iPSC-MNs) of patients with ALS. Three novel loci were significantly associated with the survival of patients with sporadic ALS- at 5q31.3 (rs11738209, HR=2.36 (95% CI, 1.77 to 3.15), p=4.85×10), at 7p21.3 (rs2354952, 1.38 (95% CI, 1.24 to 1.55), p=1.61×10) and at 12q13.3 (rs60565245, 2.18 (95% CI, 1.66 to 2.86), p=2.35×10). and variants were associated with decreased mRNA expression of each gene in iPSC-MNs and reduced in vitro survival of iPSC-MNs obtained from patients with ALS. The iPSC-MN in vitro survival was reduced when the expression of and was partially disrupted. The rs60565245 was not associated with mRNA expression. We identified three loci associated with the survival of patients with sporadic ALS, decreased mRNA expression of and and the viability of iPSC-MNs from patients. The iPSC-MN model reflects the association between patient prognosis and genotype and can contribute to target screening and validation for therapeutic intervention."},"publication_date":"2023-05-04","publication_name":{"en":"Journal of Neurology, Neurosurgery, and Psychiatry","ja":"Journal of Neurology, Neurosurgery, and Psychiatry"},"languages":["eng"],"referee":true,"identifiers":{"doi":["10.1136/jnnp-2022-330851"],"issn":["1468-330X"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/37425910","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=403697","label":"url"}],"paper_title":{"en":"Genome-wide association study identifies a new susceptibility locus in for Multiple System Atrophy.","ja":"Genome-wide association study identifies a new susceptibility locus in for Multiple System Atrophy."},"authors":{"en":[{"name":"Nakahara Yasuo"},{"name":"Mitsui Jun"},{"name":"Date Hidetoshi"},{"name":"Porto Kristine Joyce"},{"name":"Hayashi Yasuhiro"},{"name":"Yamashita Atsushi"},{"name":"Kusakabe Yoshio"},{"name":"Matsukawa Takashi"},{"name":"Ishiura Hiroyuki"},{"name":"Yasuda Tsutomu"},{"name":"Iwata Atsushi"},{"name":"Goto Jun"},{"name":"Ichikawa Yaeko"},{"name":"Momose Yoshio"},{"name":"Takahashi Yuji"},{"name":"Toda Tatsushi"},{"name":"Ohta Rikifumi"},{"name":"Yoshimura Jun"},{"name":"Morishita Shinichi"},{"name":"Gustavsson Emil K"},{"name":"Christy Darren"},{"name":"Maczis Melissa"},{"name":"Farrer Matthew J"},{"name":"Kim Han-Joon"},{"name":"Park Sung-Sup"},{"name":"Jeon Beomseok"},{"name":"Zhang Jin"},{"name":"Gu Weihong"},{"name":"Scholz Sonja W"},{"name":"Singleton Andrew B"},{"name":"Houlden Henry"},{"name":"Yabe Ichiro"},{"name":"Sasaki Hidenao"},{"name":"Matsushima Masaaki"},{"name":"Takashima Hiroshi"},{"name":"Kikuchi Akio"},{"name":"Aoki Masashi"},{"name":"Hara Kenju"},{"name":"Kakita Akiyoshi"},{"name":"Yamada Mitsunori"},{"name":"Takahashi Hitoshi"},{"name":"Onodera Osamu"},{"name":"Nishizawa Masatoyo"},{"name":"Watanabe Hirohisa"},{"name":"Ito Mizuki"},{"name":"Sobue Gen"},{"name":"Ishikawa Kinya"},{"name":"Mizusawa Hidehiro"},{"name":"Kanai Kazuaki"},{"name":"Kuwabara Satoshi"},{"name":"Arai Kimihito"},{"name":"Koyano Shigeru"},{"name":"Kuroiwa Yoshiyuki"},{"name":"Hasegawa Kazuko"},{"name":"Yuasa Tatsuhiko"},{"name":"Yasui Kenichi"},{"name":"Nakashima Kenji"},{"name":"Ito Hijiri"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"},{"name":"Kato Takeo"},{"name":"Kusunoki Susumu"},{"name":"Osaki Yasushi"},{"name":"Horiuchi Masahiro"},{"name":"Yamamoto Ken"},{"name":"Shimada Mihoko"},{"name":"Miyagawa Taku"},{"name":"Kawai Yosuke"},{"name":"Nishida Nao"},{"name":"Tokunaga Katsushi"},{"name":"Dürr Alexandra"},{"name":"Brice Alexis"},{"name":"Filla Alessandro"},{"name":"Klockgether Thomas"},{"name":"Wüllner Ullrich"},{"name":"Tanner Caroline M"},{"name":"Kukull Walter A"},{"name":"Lee Virginia M-Y"},{"name":"Masliah Eliezer"},{"name":"Low Phillip A"},{"name":"Sandroni Paola"},{"name":"Ozelius Laurie"},{"name":"Foroud Tatiana"},{"name":"Tsuji Shoji"}],"ja":[{"name":"Nakahara Yasuo"},{"name":"Mitsui Jun"},{"name":"Date Hidetoshi"},{"name":"Porto Kristine Joyce"},{"name":"Hayashi Yasuhiro"},{"name":"Yamashita Atsushi"},{"name":"Kusakabe Yoshio"},{"name":"Matsukawa Takashi"},{"name":"Ishiura Hiroyuki"},{"name":"Yasuda Tsutomu"},{"name":"Iwata Atsushi"},{"name":"Goto Jun"},{"name":"Ichikawa Yaeko"},{"name":"Momose Yoshio"},{"name":"Takahashi Yuji"},{"name":"Toda Tatsushi"},{"name":"Ohta Rikifumi"},{"name":"Yoshimura Jun"},{"name":"Morishita Shinichi"},{"name":"Gustavsson Emil K"},{"name":"Christy Darren"},{"name":"Maczis Melissa"},{"name":"Farrer Matthew J"},{"name":"Kim Han-Joon"},{"name":"Park Sung-Sup"},{"name":"Jeon Beomseok"},{"name":"Zhang Jin"},{"name":"Gu Weihong"},{"name":"Scholz Sonja W"},{"name":"Singleton Andrew B"},{"name":"Houlden Henry"},{"name":"Yabe Ichiro"},{"name":"Sasaki Hidenao"},{"name":"Matsushima Masaaki"},{"name":"Takashima Hiroshi"},{"name":"Kikuchi Akio"},{"name":"Aoki Masashi"},{"name":"Hara Kenju"},{"name":"Kakita Akiyoshi"},{"name":"Yamada Mitsunori"},{"name":"Takahashi Hitoshi"},{"name":"Onodera Osamu"},{"name":"Nishizawa Masatoyo"},{"name":"Watanabe Hirohisa"},{"name":"Ito Mizuki"},{"name":"Sobue Gen"},{"name":"Ishikawa Kinya"},{"name":"Mizusawa Hidehiro"},{"name":"Kanai Kazuaki"},{"name":"Kuwabara Satoshi"},{"name":"Arai Kimihito"},{"name":"Koyano Shigeru"},{"name":"Kuroiwa Yoshiyuki"},{"name":"Hasegawa Kazuko"},{"name":"Yuasa Tatsuhiko"},{"name":"Yasui Kenichi"},{"name":"Nakashima Kenji"},{"name":"Ito Hijiri"},{"name":"和泉 唯信"},{"name":"梶 龍兒"},{"name":"Kato Takeo"},{"name":"Kusunoki Susumu"},{"name":"Osaki Yasushi"},{"name":"Horiuchi Masahiro"},{"name":"Yamamoto Ken"},{"name":"Shimada Mihoko"},{"name":"Miyagawa Taku"},{"name":"Kawai Yosuke"},{"name":"Nishida Nao"},{"name":"Tokunaga Katsushi"},{"name":"Dürr Alexandra"},{"name":"Brice Alexis"},{"name":"Filla Alessandro"},{"name":"Klockgether Thomas"},{"name":"Wüllner Ullrich"},{"name":"Tanner Caroline M"},{"name":"Kukull Walter A"},{"name":"Lee Virginia M-Y"},{"name":"Masliah Eliezer"},{"name":"Low Phillip A"},{"name":"Sandroni Paola"},{"name":"Ozelius Laurie"},{"name":"Foroud Tatiana"},{"name":"Tsuji Shoji"}]},"description":{"en":"To elucidate the molecular basis of multiple system atrophy (MSA), a neurodegenerative disease, we conducted a genome-wide association study (GWAS) in a Japanese MSA case/control series followed by replication studies in Japanese, Korean, Chinese, European and North American samples. In the GWAS stage rs2303744 on chromosome 19 showed a suggestive association ( = 6.5 × 10 ) that was replicated in additional Japanese samples ( = 2.9 × 10 . OR = 1.58; 95% confidence interval, 1.30 to 1.91), and then confirmed as highly significant in a meta-analysis of East Asian population data ( = 5.0 × 10 . Odds ratio= 1.49; 95% CI 1.35 to 1.72). The association of rs2303744 with MSA remained significant in combined European/North American samples ( =0.023. Odds ratio=1.14; 95% CI 1.02 to 1.28) despite allele frequencies being quite different between these populations. rs2303744 leads to an amino acid substitution in that encodes the cPLA2γ lysophospholipase/transacylase. The cPLA2γ-Ile143 isoform encoded by the MSA risk allele has significantly decreased transacylase activity compared with the alternate cPLA2γ-Val143 isoform that may perturb membrane phospholipids and α-synuclein biology.","ja":"To elucidate the molecular basis of multiple system atrophy (MSA), a neurodegenerative disease, we conducted a genome-wide association study (GWAS) in a Japanese MSA case/control series followed by replication studies in Japanese, Korean, Chinese, European and North American samples. In the GWAS stage rs2303744 on chromosome 19 showed a suggestive association ( = 6.5 × 10 ) that was replicated in additional Japanese samples ( = 2.9 × 10 . OR = 1.58; 95% confidence interval, 1.30 to 1.91), and then confirmed as highly significant in a meta-analysis of East Asian population data ( = 5.0 × 10 . Odds ratio= 1.49; 95% CI 1.35 to 1.72). The association of rs2303744 with MSA remained significant in combined European/North American samples ( =0.023. Odds ratio=1.14; 95% CI 1.02 to 1.28) despite allele frequencies being quite different between these populations. rs2303744 leads to an amino acid substitution in that encodes the cPLA2γ lysophospholipase/transacylase. The cPLA2γ-Ile143 isoform encoded by the MSA risk allele has significantly decreased transacylase activity compared with the alternate cPLA2γ-Val143 isoform that may perturb membrane phospholipids and α-synuclein biology."},"publication_date":"2023-05-02","publication_name":{"en":"medRxiv : the preprint server for health sciences","ja":"medRxiv : the preprint server for health sciences"},"languages":["eng"],"referee":true,"identifiers":{"doi":["10.1101/2023.05.02.23289328"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/37086196","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=397651","label":"url"}],"paper_title":{"en":"Far-field potential of the compound muscle action potential as a reliable marker in amyotrophic lateral sclerosis","ja":"Far-field potential of the compound muscle action potential as a reliable marker in amyotrophic lateral sclerosis"},"authors":{"en":[{"name":"Higashihara M"},{"name":"Yamazaki Hiroki"},{"name":"Izumi Yuishin"},{"name":"Kobayashi M"},{"name":"Nodera Hiroyuki"},{"name":"Oishi C"},{"name":"Iwata A"},{"name":"Murayama S"},{"name":"Kaji Ryuji"},{"name":"Sonoo M"}],"ja":[{"name":"Higashihara M"},{"name":"山﨑 博輝"},{"name":"和泉 唯信"},{"name":"Kobayashi M"},{"name":"野寺 裕之"},{"name":"Oishi C"},{"name":"Iwata A"},{"name":"Murayama S"},{"name":"梶 龍兒"},{"name":"Sonoo M"}]},"description":{"en":"Reliable neurophysiological markers in amyotrophic lateral sclerosis (ALS) are of great interest. The compound muscle action potential (CMAP) amplitude has been a conventional marker, although it is greatly influenced by the electrode position. We propose the far-field potential of the CMAP (FFP-CMAP) as a new neurophysiological marker in ALS. Patients with ALS and age-matched healthy controls were enrolled. We used a proximal reference (pref) in addition to the conventional distal reference (dref). Routine CMAP was recorded from the belly-dref lead and FFP-CMAP from the dref-pref lead for the ulnar and tibial nerves. Multiple point stimulation motor unit number estimation (MUNE) was also examined in the ulnar nerve. Inter-rater reproducibility was evaluated by two examiners, and some patients were followed up every 3 mo for 1 y. We tested 17 patients with ALS and 10 controls. The amplitudes of routine CMAP and FFP-CMAP in the ulnar and tibial nerves, and hypothenar MUNE value in the ulnar nerve were significantly decreased in ALS compared to controls. Ulnar FFP-CMAP achieved the highest inter-rater intraclass correlation coefficient (ICC) value (0.942) when compared with routine CMAP (0.880) and MUNE (0.839). The tibial FFP-CMAP had a higher ICC value (0.986) than the routine CMAP (0.697). In this way, the FFP-CMAP showed high inter-rater reproducibility because its shape was not much influenced by the electrode position. During 1-y follow-up, decline of CMAP, FFP, and MUNE showed significant correlations with the Amyotrophic Lateral Sclerosis Functional Rating Scale - Revised (ALSFRS-R). The FFP-CMAP shows promise as a reliable marker for ALS.","ja":"Reliable neurophysiological markers in amyotrophic lateral sclerosis (ALS) are of great interest. The compound muscle action potential (CMAP) amplitude has been a conventional marker, although it is greatly influenced by the electrode position. We propose the far-field potential of the CMAP (FFP-CMAP) as a new neurophysiological marker in ALS. Patients with ALS and age-matched healthy controls were enrolled. We used a proximal reference (pref) in addition to the conventional distal reference (dref). Routine CMAP was recorded from the belly-dref lead and FFP-CMAP from the dref-pref lead for the ulnar and tibial nerves. Multiple point stimulation motor unit number estimation (MUNE) was also examined in the ulnar nerve. Inter-rater reproducibility was evaluated by two examiners, and some patients were followed up every 3 mo for 1 y. We tested 17 patients with ALS and 10 controls. The amplitudes of routine CMAP and FFP-CMAP in the ulnar and tibial nerves, and hypothenar MUNE value in the ulnar nerve were significantly decreased in ALS compared to controls. Ulnar FFP-CMAP achieved the highest inter-rater intraclass correlation coefficient (ICC) value (0.942) when compared with routine CMAP (0.880) and MUNE (0.839). The tibial FFP-CMAP had a higher ICC value (0.986) than the routine CMAP (0.697). In this way, the FFP-CMAP showed high inter-rater reproducibility because its shape was not much influenced by the electrode position. During 1-y follow-up, decline of CMAP, FFP, and MUNE showed significant correlations with the Amyotrophic Lateral Sclerosis Functional Rating Scale - Revised (ALSFRS-R). The FFP-CMAP shows promise as a reliable marker for ALS."},"publication_date":"2023-04-22","publication_name":{"en":"Muscle & Nerve","ja":"Muscle & Nerve"},"languages":["eng"],"referee":true,"identifiers":{"doi":["10.1002/mus.27829"],"issn":["1097-4598"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/118076","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/36355989","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=394090","label":"url"}],"paper_title":{"en":"A Pilot Study of A2NTX, a Novel Low-Molecular-Weight Neurotoxin Derived from Subtype A2 for Post-Stroke Lower Limb Spasticity: Comparison with OnabotulinumtoxinA.","ja":"A Pilot Study of A2NTX, a Novel Low-Molecular-Weight Neurotoxin Derived from Subtype A2 for Post-Stroke Lower Limb Spasticity: Comparison with OnabotulinumtoxinA."},"authors":{"en":[{"name":"Kaji Ryuji"},{"name":"Miyashiro Ai"},{"name":"Sato Nori"},{"name":"Furumoto Taiki"},{"name":"Takeuchi Toshiaki"},{"name":"Miyamoto Ryosuke"},{"name":"Kohda Tomoko"},{"name":"Izumi Yuishin"},{"name":"Kozaki Shunji"}],"ja":[{"name":"梶 龍兒"},{"name":"宮城 愛"},{"name":"佐藤 紀"},{"name":"古本 太希"},{"name":"武内 俊明"},{"name":"宮本 亮介"},{"name":"Kohda Tomoko"},{"name":"和泉 唯信"},{"name":"Kozaki Shunji"}]},"description":{"en":"= 0.002), but was unaffected in the A2NTX-injected group by day 60, suggesting there was less spread of A2NTX to the upper limb than there was with BOTOX. Being a small-sized pilot investigation with an imbalance in the gender of the subjects, the present study suggested superior efficacy and safety of A2NTX, and warrants a larger scale clinical trial of A2NTX to confirm these preliminary results.","ja":"= 0.002), but was unaffected in the A2NTX-injected group by day 60, suggesting there was less spread of A2NTX to the upper limb than there was with BOTOX. Being a small-sized pilot investigation with an imbalance in the gender of the subjects, the present study suggested superior efficacy and safety of A2NTX, and warrants a larger scale clinical trial of A2NTX to confirm these preliminary results."},"publication_date":"2022-10-28","publication_name":{"en":"Toxins","ja":"Toxins"},"volume":"Vol.14","number":"No.11","languages":["eng"],"referee":true,"identifiers":{"doi":["10.3390/toxins14110739"],"issn":["2072-6651"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=401627","label":"url"}],"paper_title":{"en":"A case of anti-NT5c1A antibody-seropositive inclusion body myositis associated with severe dysphagia and prominent forearm weakness","ja":"A case of anti-NT5c1A antibody-seropositive inclusion body myositis associated with severe dysphagia and prominent forearm weakness"},"authors":{"en":[{"name":"Matsui Naoko"},{"name":"Takahara Mika"},{"name":"Yamazaki Hiroki"},{"name":"Takamatsu Naoko"},{"name":"Osaki Yusuke"},{"name":"Kaji Ryuji"},{"name":"Nishino Ichizo"},{"name":"Yamashita Satoshi"},{"name":"Izumi Yuishin"}],"ja":[{"name":"松井 尚子"},{"name":"Takahara Mika"},{"name":"山﨑 博輝"},{"name":"Takamatsu Naoko"},{"name":"大崎 裕亮"},{"name":"梶 龍兒"},{"name":"Nishino Ichizo"},{"name":"Yamashita Satoshi"},{"name":"和泉 唯信"}]},"publication_date":"2022-10-24","publication_name":{"en":"Neurology and Clinical Neuroscience","ja":"Neurology and Clinical Neuroscience"},"volume":"Vol.11","number":"No.1","starting_page":"46","ending_page":"48","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1111/ncn3.12678"],"issn":["2049-4173"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/118371","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/35532908","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=386857","label":"url"}],"paper_title":{"en":"Efficacy and Safety of Ultrahigh-Dose Methylcobalamin in Early-Stage Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial.","ja":"Efficacy and Safety of Ultrahigh-Dose Methylcobalamin in Early-Stage Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial."},"authors":{"en":[{"name":"Oki Ryosuke"},{"name":"Izumi Yuishin"},{"name":"Fujita Koji"},{"name":"Miyamoto Ryosuke"},{"name":"Nodera Hiroyuki"},{"name":"Sato Yasutaka"},{"name":"Sakaguchi Satoshi"},{"name":"Nokihara Hiroshi"},{"name":"Kanai Kazuaki"},{"name":"Tsunemi Taiji"},{"name":"Hattori Nobutaka"},{"name":"Hatanaka Yuki"},{"name":"Sonoo Masahiro"},{"name":"Atsuta Naoki"},{"name":"Sobue Gen"},{"name":"Shimizu Toshio"},{"name":"Shibuya Kazumoto"},{"name":"Ikeda Ken"},{"name":"Kano Osamu"},{"name":"Nishinaka Kazuto"},{"name":"Kojima Yasuhiro"},{"name":"Oda Masaya"},{"name":"Komai Kiyonobu"},{"name":"Kikuchi Hitoshi"},{"name":"Kohara Nobuo"},{"name":"Urushitani Makoto"},{"name":"Nakayama Yoshiaki"},{"name":"Ito Hidefumi"},{"name":"Nagai Makiko"},{"name":"Nishiyama Kazutoshi"},{"name":"Kuzume Daisuke"},{"name":"Shimohama Shun"},{"name":"Shimohata Takayoshi"},{"name":"Abe Koji"},{"name":"Ishihara Tomohiko"},{"name":"Onodera Osamu"},{"name":"Isose Sagiri"},{"name":"Araki Nobuyuki"},{"name":"Morita Mitsuya"},{"name":"Noda Kazuyuki"},{"name":"Toda Tatsushi"},{"name":"Maruyama Hirofumi"},{"name":"Furuya Hirokazu"},{"name":"Teramukai Satoshi"},{"name":"Kagimura Tatsuo"},{"name":"Noma Kensuke"},{"name":"Yanagawa Hiroaki"},{"name":"Kuwabara Satoshi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"沖 良祐"},{"name":"和泉 唯信"},{"name":"藤田 浩司"},{"name":"宮本 亮介"},{"name":"野寺 裕之"},{"name":"Sato Yasutaka"},{"name":"坂口 暁"},{"name":"軒原 浩"},{"name":"Kanai Kazuaki"},{"name":"Tsunemi Taiji"},{"name":"Hattori Nobutaka"},{"name":"Hatanaka Yuki"},{"name":"Sonoo Masahiro"},{"name":"Atsuta Naoki"},{"name":"Sobue Gen"},{"name":"Shimizu Toshio"},{"name":"Shibuya Kazumoto"},{"name":"Ikeda Ken"},{"name":"Kano Osamu"},{"name":"Nishinaka Kazuto"},{"name":"Kojima Yasuhiro"},{"name":"Oda Masaya"},{"name":"Komai Kiyonobu"},{"name":"Kikuchi Hitoshi"},{"name":"Kohara Nobuo"},{"name":"Urushitani Makoto"},{"name":"Nakayama Yoshiaki"},{"name":"Ito Hidefumi"},{"name":"Nagai Makiko"},{"name":"Nishiyama Kazutoshi"},{"name":"Kuzume Daisuke"},{"name":"Shimohama Shun"},{"name":"Shimohata Takayoshi"},{"name":"Abe Koji"},{"name":"Ishihara Tomohiko"},{"name":"Onodera Osamu"},{"name":"Isose Sagiri"},{"name":"Araki Nobuyuki"},{"name":"Morita Mitsuya"},{"name":"Noda Kazuyuki"},{"name":"Toda Tatsushi"},{"name":"Maruyama Hirofumi"},{"name":"Furuya Hirokazu"},{"name":"Teramukai Satoshi"},{"name":"Kagimura Tatsuo"},{"name":"Noma Kensuke"},{"name":"楊河 宏章"},{"name":"Kuwabara Satoshi"},{"name":"梶 龍兒"}]},"description":{"en":"ClinicalTrials.gov Identifier: NCT03548311.","ja":"A total of 130 patients (mean [SD] age, 61.0 [11.7] years; 74 men [56.9%]) were randomly assigned to methylcobalamin or placebo (65 each). A total of 129 patients were eligible for the full analysis set, and 126 completed the double-blind stage. Of these, 124 patients proceeded to the open-label extended period. The least square means difference in ALSFRS-R total score at week 16 of the randomized period was 1.97 points greater with methylcobalamin than placebo (-2.66 vs -4.63; 95% CI, 0.44-3.50; P = .01). The incidence of adverse events was similar between the 2 groups."},"publication_date":"2022-06-01","publication_name":{"en":"JAMA Neurology","ja":"JAMA Neurology"},"volume":"Vol.79","number":"No.6","starting_page":"575","ending_page":"583","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1001/jamaneurol.2022.0901"],"issn":["2168-6157"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/117387","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/35568729","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=386969","label":"url"}],"paper_title":{"en":"TDP-43 regulates cholesterol biosynthesis by inhibiting sterol regulatory element-binding protein 2.","ja":"TDP-43 regulates cholesterol biosynthesis by inhibiting sterol regulatory element-binding protein 2."},"authors":{"en":[{"name":"Egawa Naohiro"},{"name":"Izumi Yuishin"},{"name":"Suzuki Hidefumi"},{"name":"Tsuge Itaru"},{"name":"Fujita Koji"},{"name":"Shimano Hitoshi"},{"name":"Izumikawa Keiichi"},{"name":"Takahashi Nobuhiro"},{"name":"Tsukita Kayoko"},{"name":"Enami Takako"},{"name":"Nakamura Masahiro"},{"name":"Watanabe Akira"},{"name":"Naitoh Motoko"},{"name":"Suzuki Shigehiko"},{"name":"Seki Tsuneyoshi"},{"name":"Kobayashi Kazuhiro"},{"name":"Toda Tatsushi"},{"name":"Kaji Ryuji"},{"name":"Takahashi Ryosuke"},{"name":"Inoue Haruhisa"}],"ja":[{"name":"Egawa Naohiro"},{"name":"和泉 唯信"},{"name":"Suzuki Hidefumi"},{"name":"Tsuge Itaru"},{"name":"藤田 浩司"},{"name":"Shimano Hitoshi"},{"name":"Izumikawa Keiichi"},{"name":"Takahashi Nobuhiro"},{"name":"Tsukita Kayoko"},{"name":"Enami Takako"},{"name":"Nakamura Masahiro"},{"name":"Watanabe Akira"},{"name":"Naitoh Motoko"},{"name":"Suzuki Shigehiko"},{"name":"Seki Tsuneyoshi"},{"name":"Kobayashi Kazuhiro"},{"name":"Toda Tatsushi"},{"name":"梶 龍兒"},{"name":"Takahashi Ryosuke"},{"name":"Inoue Haruhisa"}]},"description":{"en":"Dyslipidemia is considered an essential component of the pathological process of amyotrophic lateral sclerosis (ALS), a fatal motor neuron disease. Although TAR DNA Binding Protein 43 kDa (TDP-43) links both familial and sporadic forms of ALS and cytoplasmic aggregates are a hallmark of most cases of ALS, the molecular mechanism and the in vivo relation of ALS dyslipidemia with TDP-43 have been unclear. To analyze the dyslipidemia-related gene expression by TDP-43, we performed expression microarray and RNA deep sequencing (RNA-Seq) using cell lines expressing high levels of TDP-43 and identified 434 significantly altered genes including sterol regulatory element-binding protein 2 (SREBP2), a master regulator of cholesterol homeostasis and its downstream genes. Elevated TDP-43 impaired SREBP2 transcriptional activity, leading to inhibition of cholesterol biosynthesis. The amount of cholesterol was significantly decreased in the spinal cords of TDP-43-overexpressed ALS model mice and in the cerebrospinal fluids of ALS patients. These results suggested that TDP-43 could play an essential role in cholesterol biosynthesis in relation to ALS dyslipidemia.","ja":"Dyslipidemia is considered an essential component of the pathological process of amyotrophic lateral sclerosis (ALS), a fatal motor neuron disease. Although TAR DNA Binding Protein 43 kDa (TDP-43) links both familial and sporadic forms of ALS and cytoplasmic aggregates are a hallmark of most cases of ALS, the molecular mechanism and the in vivo relation of ALS dyslipidemia with TDP-43 have been unclear. To analyze the dyslipidemia-related gene expression by TDP-43, we performed expression microarray and RNA deep sequencing (RNA-Seq) using cell lines expressing high levels of TDP-43 and identified 434 significantly altered genes including sterol regulatory element-binding protein 2 (SREBP2), a master regulator of cholesterol homeostasis and its downstream genes. Elevated TDP-43 impaired SREBP2 transcriptional activity, leading to inhibition of cholesterol biosynthesis. The amount of cholesterol was significantly decreased in the spinal cords of TDP-43-overexpressed ALS model mice and in the cerebrospinal fluids of ALS patients. These results suggested that TDP-43 could play an essential role in cholesterol biosynthesis in relation to ALS dyslipidemia."},"publication_date":"2022-05-14","publication_name":{"en":"Scientific Reports","ja":"Scientific Reports"},"volume":"Vol.12","number":"No.1","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1038/s41598-022-12133-4"],"issn":["2045-2322"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/35039179","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=396465","label":"url"}],"paper_title":{"en":"Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis","ja":"Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis"},"authors":{"en":[{"name":"Tohnai G"},{"name":"Nakamura R"},{"name":"Atsuta N"},{"name":"Nakatochi M"},{"name":"Hayashi N"},{"name":"Ito D"},{"name":"Watanabe H"},{"name":"Watanabe H"},{"name":"Katsuno M"},{"name":"Izumi Yuishin"},{"name":"Taniguchi A"},{"name":"Kanai K"},{"name":"Morita M"},{"name":"Kano O"},{"name":"Kuwabara S"},{"name":"Oda M"},{"name":"Abe K"},{"name":"Aoki M"},{"name":"Aiba I"},{"name":"Okamoto K"},{"name":"Mizoguchi K"},{"name":"Ishihara T"},{"name":"Kawata A"},{"name":"Yokota T"},{"name":"Hasegawa K"},{"name":"Nagano I"},{"name":"Yabe I"},{"name":"Tanaka F"},{"name":"Kuru S"},{"name":"Hattori N"},{"name":"Nakashima K"},{"name":"Kaji Ryuji"},{"name":"Sobue G"},{"name":".Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS)"}],"ja":[{"name":"Tohnai G"},{"name":"Nakamura R"},{"name":"Atsuta N"},{"name":"Nakatochi M"},{"name":"Hayashi N"},{"name":"Ito D"},{"name":"Watanabe H"},{"name":"Watanabe H"},{"name":"Katsuno M"},{"name":"和泉 唯信"},{"name":"Taniguchi A"},{"name":"Kanai K"},{"name":"Morita M"},{"name":"Kano O"},{"name":"Kuwabara S"},{"name":"Oda M"},{"name":"Abe K"},{"name":"Aoki M"},{"name":"Aiba I"},{"name":"Okamoto K"},{"name":"Mizoguchi K"},{"name":"Ishihara T"},{"name":"Kawata A"},{"name":"Yokota T"},{"name":"Hasegawa K"},{"name":"Nagano I"},{"name":"Yabe I"},{"name":"Tanaka F"},{"name":"Kuru S"},{"name":"Hattori N"},{"name":"Nakashima K"},{"name":"梶 龍兒"},{"name":"Sobue G"},{"name":".Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS)"}]},"description":{"en":"DNAJC7 has recently been identified as an amyotrophic lateral sclerosis (ALS) gene via large-scale exome analysis, and its involvement in ALS is still unclear in various populations. This study aimed to determine the frequencies and characteristics of the DNAJC7 variants in a Japanese ALS cohort. A total of 807 unrelated Japanese patients with sporadic ALS were screened via exome analysis. In total, we detected six rare missense variants and one splice-site variant of the DNAJC7 gene, which are not reported in the Japanese public database. Furthermore, the missense variants are located around the TPR domain, which is important for the function of DNAJC7. The total frequency of the DNAJC7 variants in Japanese ALS patients was estimated at 0.87%. Collectively, these results suggest that variants of DNAJC7 are rare cause of Japanese patients with sporadic ALS.","ja":"DNAJC7 has recently been identified as an amyotrophic lateral sclerosis (ALS) gene via large-scale exome analysis, and its involvement in ALS is still unclear in various populations. This study aimed to determine the frequencies and characteristics of the DNAJC7 variants in a Japanese ALS cohort. A total of 807 unrelated Japanese patients with sporadic ALS were screened via exome analysis. In total, we detected six rare missense variants and one splice-site variant of the DNAJC7 gene, which are not reported in the Japanese public database. Furthermore, the missense variants are located around the TPR domain, which is important for the function of DNAJC7. The total frequency of the DNAJC7 variants in Japanese ALS patients was estimated at 0.87%. Collectively, these results suggest that variants of DNAJC7 are rare cause of Japanese patients with sporadic ALS."},"publication_date":"2022-05","publication_name":{"en":"Neurobiology of Aging","ja":"Neurobiology of Aging"},"volume":"Vol.113","starting_page":"131","ending_page":"136","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.neurobiolaging.2021.12.002"],"issn":["1558-1497"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/117149","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/34822610","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85119953968&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=386282","label":"url"}],"paper_title":{"en":"Clinical safety and tolerability of A2NTX, a novel low-molecular-weight neurotoxin derived from botulinum neurotoxin subtype A2, in comparison with subtype A1 toxins","ja":"Clinical safety and tolerability of A2NTX, a novel low-molecular-weight neurotoxin derived from botulinum neurotoxin subtype A2, in comparison with subtype A1 toxins"},"authors":{"en":[{"name":"Takeuchi T"},{"name":"Okuno T"},{"name":"Miyashiro A"},{"name":"Kohda T"},{"name":"Miyamoto Ryosuke"},{"name":"Izumi Yuishin"},{"name":"Kozaki S"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Takeuchi T"},{"name":"Okuno T"},{"name":"Miyashiro A"},{"name":"Kohda T"},{"name":"宮本 亮介"},{"name":"和泉 唯信"},{"name":"Kozaki S"},{"name":"梶 龍兒"}]},"description":{"en":"All the botulinum type A neurotoxins available for clinical use are of the A1 subtype. We developed a subtype A2 low-molecular-weight (150 kD (kilo Dalton)) neurotoxin (A2NTX) with less spread and faster entry into the motor nerve terminal than A1 in vitro and in vivo. Preliminary clinical studies showed that its efficacy is superior to A1 toxins. We conducted an open study exploring its safety and tolerability profile in comparison with A1LL (LL type A1 toxin, or onabotulinumtoxinA) and a low-molecular-weight (150 kD) A1 neurotoxin (A1NTX). Those who had been using A1LL ( = 90; 50-360 mouse LD50 units) or A1NTX ( = 30; 50-580 units) were switched to A2NTX ( = 120; 25-600 units) from 2010 to 2018 (number of sessions ~27, cumulative doses ~11,640 units per patient). The adverse events for A2NTX included weakness ( = 1, ascribed to alcoholic polyneuropathy), dysphagia (1), local weakness (4), and spread to other muscles (1), whereas those for A1LL or A1NTX comprised weakness ( = 2, A1NTX), dysphagia (8), ptosis (6), local weakness (7), and spread to other muscles (15). After injections, 89 out of 120 patients preferred A2NTX to A1 for the successive sessions. The present study demonstrated that A2NTX had clinical safety up to the dose of 500 units and was well tolerated compared to A1 toxins.","ja":"All the botulinum type A neurotoxins available for clinical use are of the A1 subtype. We developed a subtype A2 low-molecular-weight (150 kD (kilo Dalton)) neurotoxin (A2NTX) with less spread and faster entry into the motor nerve terminal than A1 in vitro and in vivo. Preliminary clinical studies showed that its efficacy is superior to A1 toxins. We conducted an open study exploring its safety and tolerability profile in comparison with A1LL (LL type A1 toxin, or onabotulinumtoxinA) and a low-molecular-weight (150 kD) A1 neurotoxin (A1NTX). Those who had been using A1LL ( = 90; 50-360 mouse LD50 units) or A1NTX ( = 30; 50-580 units) were switched to A2NTX ( = 120; 25-600 units) from 2010 to 2018 (number of sessions ~27, cumulative doses ~11,640 units per patient). The adverse events for A2NTX included weakness ( = 1, ascribed to alcoholic polyneuropathy), dysphagia (1), local weakness (4), and spread to other muscles (1), whereas those for A1LL or A1NTX comprised weakness ( = 2, A1NTX), dysphagia (8), ptosis (6), local weakness (7), and spread to other muscles (15). After injections, 89 out of 120 patients preferred A2NTX to A1 for the successive sessions. The present study demonstrated that A2NTX had clinical safety up to the dose of 500 units and was well tolerated compared to A1 toxins."},"publication_date":"2021-11-22","publication_name":{"en":"Toxins","ja":"Toxins"},"volume":"Vol.13","number":"No.11","starting_page":"824","ending_page":"824","languages":["eng"],"referee":true,"identifiers":{"doi":["10.3390/toxins13110824"],"issn":["2072-6651"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85100872799&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=386276","label":"url"}],"paper_title":{"en":"MR spectroscopy and imaging-derived measurements in the supplementary motor area for biomarkers of amyotrophic lateral sclerosis","ja":"MR spectroscopy and imaging-derived measurements in the supplementary motor area for biomarkers of amyotrophic lateral sclerosis"},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Izumi Yuishin"},{"name":"Abe Takashi"},{"name":"Haji Shotaro"},{"name":"Murakami Nagahisa"},{"name":"Osaki Yusuke"},{"name":"Matsumoto Yuki"},{"name":"Harada Masafumi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"佐光 亘"},{"name":"和泉 唯信"},{"name":"阿部 考志"},{"name":"土師 正太郎"},{"name":"村上 永尚"},{"name":"大崎 裕亮"},{"name":"松元 友暉"},{"name":"原田 雅史"},{"name":"梶 龍兒"}]},"publication_date":"2021-10","publication_name":{"en":"Neurological Sciences","ja":"Neurological Sciences"},"volume":"Vol.42","number":"No.10","starting_page":"4257","ending_page":"4263","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1007/s10072-021-05107-3"],"issn":["1590-3478"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/34030052","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85106374066&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=386035","label":"url"}],"paper_title":{"en":"Peripheral nerve dysfunction in a patient with thyrotoxic periodic paralysis: Evidence from an axonal prolonged exercise test","ja":"Peripheral nerve dysfunction in a patient with thyrotoxic periodic paralysis: Evidence from an axonal prolonged exercise test"},"authors":{"en":[{"name":"Osaki Yusuke"},{"name":"Nodera Hiroyuki"},{"name":"Fukumoto Tatsuya"},{"name":"Kaji Ryuji"},{"name":"Izumi Yuishin"}],"ja":[{"name":"大崎 裕亮"},{"name":"野寺 裕之"},{"name":"福本 竜也"},{"name":"梶 龍兒"},{"name":"和泉 唯信"}]},"publication_date":"2021-07","publication_name":{"en":"Clinical Neurophysiology","ja":"Clinical Neurophysiology"},"volume":"Vol.132","number":"No.7","starting_page":"1496","ending_page":"1498","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.clinph.2021.04.006"],"issn":["1872-8952"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/116561","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/34074009","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85107554331&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=377488","label":"url"}],"paper_title":{"en":"Long-Term Follow-Up of 12 Patients Treated with Bilateral Pallidal Stimulation for Tardive Dystonia","ja":"Long-Term Follow-Up of 12 Patients Treated with Bilateral Pallidal Stimulation for Tardive Dystonia"},"authors":{"en":[{"name":"Koyama Hiroshi"},{"name":"Mure Hideo"},{"name":"Morigaki Ryoma"},{"name":"Miyamoto Ryosuke"},{"name":"Miyake Kazuhisa"},{"name":"Matsuda Taku"},{"name":"Fujita Koji"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"},{"name":"Goto Satoshi"},{"name":"Takagi Yasushi"}],"ja":[{"name":"Koyama Hiroshi"},{"name":"牟礼 英生"},{"name":"森垣 龍馬"},{"name":"宮本 亮介"},{"name":"三宅 一央"},{"name":"Matsuda Taku"},{"name":"藤田 浩司"},{"name":"和泉 唯信"},{"name":"梶 龍兒"},{"name":"後藤 惠"},{"name":"髙木 康志"}]},"description":{"en":"Tardive dystonia (TD) is a side effect of prolonged dopamine receptor antagonist intake. TD can be a chronic disabling movement disorder despite medical treatment. We previously demonstrated successful outcomes in six patients with TD using deep brain stimulation (DBS); however, more patients are needed to better understand the efficacy of DBS for treating TD. We assessed the outcomes of 12 patients with TD who underwent globus pallidus internus (GPi) DBS by extending the follow-up period of previously reported patients and enrolling six additional patients. All patients were refractory to pharmacotherapy and were referred for surgical intervention by movement disorder neurologists. In all patients, DBS electrodes were implanted bilaterally within the GPi under general anesthesia. The mean ages at TD onset and surgery were 39.2 ± 12.3 years and 44.6 ± 12.3 years, respectively. The Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) performed the preoperative and postoperative evaluations. The average BFMDRS improvement rate at 1 month postoperatively was 75.6 ± 27.6% ( < 0.001). Ten patients were assessed in the long term (78.0 ± 50.4 months after surgery), and the long-term BFMDRS improvement was 78.0 ± 20.4%. Two patients responded poorly to DBS. Both had a longer duration from TD onset to surgery and older age at surgery. A cognitive and psychiatric decline was observed in the oldest patients, while no such decline ware observed in the younger patients. In most patients with TD, GPi-DBS could be a beneficial therapeutic option for long-term relief of TD.","ja":"Tardive dystonia (TD) is a side effect of prolonged dopamine receptor antagonist intake. TD can be a chronic disabling movement disorder despite medical treatment. We previously demonstrated successful outcomes in six patients with TD using deep brain stimulation (DBS); however, more patients are needed to better understand the efficacy of DBS for treating TD. We assessed the outcomes of 12 patients with TD who underwent globus pallidus internus (GPi) DBS by extending the follow-up period of previously reported patients and enrolling six additional patients. All patients were refractory to pharmacotherapy and were referred for surgical intervention by movement disorder neurologists. In all patients, DBS electrodes were implanted bilaterally within the GPi under general anesthesia. The mean ages at TD onset and surgery were 39.2 ± 12.3 years and 44.6 ± 12.3 years, respectively. The Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) performed the preoperative and postoperative evaluations. The average BFMDRS improvement rate at 1 month postoperatively was 75.6 ± 27.6% ( < 0.001). Ten patients were assessed in the long term (78.0 ± 50.4 months after surgery), and the long-term BFMDRS improvement was 78.0 ± 20.4%. Two patients responded poorly to DBS. Both had a longer duration from TD onset to surgery and older age at surgery. A cognitive and psychiatric decline was observed in the oldest patients, while no such decline ware observed in the younger patients. In most patients with TD, GPi-DBS could be a beneficial therapeutic option for long-term relief of TD."},"publication_date":"2021-05-24","publication_name":{"en":"Life","ja":"Life"},"volume":"Vol.11","number":"No.6","starting_page":"477","ending_page":"477","languages":["eng"],"referee":true,"identifiers":{"doi":["10.3390/life11060477"],"issn":["2075-1729"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/116650","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=377507","label":"url"}],"paper_title":{"en":"The value of serum uric acid as a prognostic biomarker in amyotrophic lateral sclerosis: Evidence from a meta-analysis","ja":"The value of serum uric acid as a prognostic biomarker in amyotrophic lateral sclerosis: Evidence from a meta-analysis"},"authors":{"en":[{"name":"Haji Shotaro"},{"name":"Sako Wataru"},{"name":"Murakami Nagahisa"},{"name":"Osaki Yusuke"},{"name":"Furukawa Takahiro"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"土師 正太郎"},{"name":"佐光 亘"},{"name":"村上 永尚"},{"name":"大崎 裕亮"},{"name":"古川 貴大"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"publication_date":"2021-04","publication_name":{"en":"Clinical Neurology and Neurosurgery","ja":"Clinical Neurology and Neurosurgery"},"volume":"Vol.203","starting_page":"106566","ending_page":"106566","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.clineuro.2021.106566"],"issn":["0303-8467"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/32888732","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=377519","label":"url"}],"paper_title":{"en":"Genetic and functional analysis of KIF5A variants in Japanese patients with sporadic amyotrophic lateral sclerosis","ja":"Genetic and functional analysis of KIF5A variants in Japanese patients with sporadic amyotrophic lateral sclerosis"},"authors":{"en":[{"name":"Nakamura R"},{"name":"Tohnai G"},{"name":"Atsuta N"},{"name":"Nakatochi M"},{"name":"Hayashi N"},{"name":"Watanabe H"},{"name":"Yokoi D"},{"name":"Watanabe H"},{"name":"Katsuno M"},{"name":"Izumi Yuishin"},{"name":"Taniguchi A"},{"name":"Kanai K"},{"name":"Morita M"},{"name":"Kano O"},{"name":"Kuwabara S"},{"name":"Oda M"},{"name":"Abe K"},{"name":"Aoki M"},{"name":"Aiba I"},{"name":"Okamoto K"},{"name":"Mizoguchi K"},{"name":"Hattori N"},{"name":"Nakashima K"},{"name":"Kaji Ryuji"},{"name":"Sobue G"},{"name":".Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS)"}],"ja":[{"name":"Nakamura R"},{"name":"Tohnai G"},{"name":"Atsuta N"},{"name":"Nakatochi M"},{"name":"Hayashi N"},{"name":"Watanabe H"},{"name":"Yokoi D"},{"name":"Watanabe H"},{"name":"Katsuno M"},{"name":"和泉 唯信"},{"name":"Taniguchi A"},{"name":"Kanai K"},{"name":"Morita M"},{"name":"Kano O"},{"name":"Kuwabara S"},{"name":"Oda M"},{"name":"Abe K"},{"name":"Aoki M"},{"name":"Aiba I"},{"name":"Okamoto K"},{"name":"Mizoguchi K"},{"name":"Hattori N"},{"name":"Nakashima K"},{"name":"梶 龍兒"},{"name":"Sobue G"},{"name":".Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS)"}]},"description":{"en":"Two recent genetic studies reported that loss-of-function mutation of the C-terminal cargo-binding tail domain of the KIF5A gene cause amyotrophic lateral sclerosis (ALS). The aim of this study is to investigate the frequency of KIF5A variants in Japanese patients with sporadic ALS. In total, 807 sporadic ALS patients and 191 normal controls from a multicenter ALS cohort in Japan were included. Whole exome sequencing on an Illumina HiSeq 2000/2500 sequencer was used to identify and select variants within the KIF5A gene. Thirteen patients harbored a nonsynonymous variant in the KIF5A gene; These were considered variants of uncertain significance. One patient harbored a novel splice-site variant (c.2993-3C>A) in the C-terminal cargo-binding tail domain of the KIF5A gene. Functional analysis of this variant revealed that it caused skipping of exon 27. The frequency of KIF5A mutations in Japanese patients with sporadic ALS was 0.12% (1/807). This study reports a novel loss-of-function variant in KIF5A, and indicates that loss-of-function variant in KIF5A is a rare cause of sporadic ALS in Japanese patients.","ja":"Two recent genetic studies reported that loss-of-function mutation of the C-terminal cargo-binding tail domain of the KIF5A gene cause amyotrophic lateral sclerosis (ALS). The aim of this study is to investigate the frequency of KIF5A variants in Japanese patients with sporadic ALS. In total, 807 sporadic ALS patients and 191 normal controls from a multicenter ALS cohort in Japan were included. Whole exome sequencing on an Illumina HiSeq 2000/2500 sequencer was used to identify and select variants within the KIF5A gene. Thirteen patients harbored a nonsynonymous variant in the KIF5A gene; These were considered variants of uncertain significance. One patient harbored a novel splice-site variant (c.2993-3C>A) in the C-terminal cargo-binding tail domain of the KIF5A gene. Functional analysis of this variant revealed that it caused skipping of exon 27. The frequency of KIF5A mutations in Japanese patients with sporadic ALS was 0.12% (1/807). This study reports a novel loss-of-function variant in KIF5A, and indicates that loss-of-function variant in KIF5A is a rare cause of sporadic ALS in Japanese patients."},"publication_date":"2021-01","publication_name":{"en":"Neurobiology of Aging","ja":"Neurobiology of Aging"},"volume":"Vol.97","number":"No.147","starting_page":"e11","ending_page":"e17","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.neurobiolaging.2020.07.010"],"issn":["0197-4580"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/116385","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/34759148","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=386281","label":"url"}],"paper_title":{"en":"Clinical uses of a robot (hybrid-assisted limb or HALTM)in patients with post-stroke spasticity after botulinum toxin injections","ja":"Clinical uses of a robot (hybrid-assisted limb or HALTM)in patients with post-stroke spasticity after botulinum toxin injections"},"authors":{"en":[{"name":"Okuno Tsuyoshi"},{"name":"Takeuchi T"},{"name":"Takeda E"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"奥野 剛史"},{"name":"Takeuchi T"},{"name":"Takeda E"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"Spasticity is the major cause of disabilities in stroke-survivors. Botulinum neurotoxin (BoNT) injections have been used to reduce the muscle tone in those patients, but its efficacy in functional outcome is not well delineated. We have studied the effect of a robot (Hybrid-Assisted Limb or HAL™) designed for assisting the elbow flexion and extension in those who underwent BoNT injections with reduced muscle tone. We enrolled 15 post stroke patients who had BoNT injections for more than 12 months. They were measured for active ROM (range of motion) with video recordings before and after the use of HAL for 40 minutes. Active ROM was measured by a rater who were blinded as to the use of the robot. Significant increase of active ROM was observed immediately after the use of HAL, and the effect was maintained for another 12 months by repeating the sessions. It is suggested from present study that the combined use of BoNT and robotics is effective efficacious for regaining the active function of the upper limb in stroke survivors. J. Med. Invest. 68 : 297-301, August, 2021.","ja":"Spasticity is the major cause of disabilities in stroke-survivors. Botulinum neurotoxin (BoNT) injections have been used to reduce the muscle tone in those patients, but its efficacy in functional outcome is not well delineated. We have studied the effect of a robot (Hybrid-Assisted Limb or HAL™) designed for assisting the elbow flexion and extension in those who underwent BoNT injections with reduced muscle tone. We enrolled 15 post stroke patients who had BoNT injections for more than 12 months. They were measured for active ROM (range of motion) with video recordings before and after the use of HAL for 40 minutes. Active ROM was measured by a rater who were blinded as to the use of the robot. Significant increase of active ROM was observed immediately after the use of HAL, and the effect was maintained for another 12 months by repeating the sessions. It is suggested from present study that the combined use of BoNT and robotics is effective efficacious for regaining the active function of the upper limb in stroke survivors. J. Med. Invest. 68 : 297-301, August, 2021."},"publication_date":"2021","publication_name":{"en":"The Journal of Medical Investigation : JMI","ja":"The Journal of Medical Investigation : JMI"},"volume":"Vol.68","number":"No.3,4","starting_page":"297","ending_page":"301","languages":["eng"],"referee":true,"identifiers":{"doi":["10.2152/jmi.68.297"],"issn":["1349-6867"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/116518","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/32968195","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=377333","label":"url"}],"paper_title":{"en":"A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis","ja":"A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis"},"authors":{"en":[{"name":"Nakamura R"},{"name":"Misawa K"},{"name":"Tohnai G"},{"name":"Nakatochi M"},{"name":"Furuhashi S"},{"name":"Atsuta N"},{"name":"Hayashi N"},{"name":"Yokoi D"},{"name":"Watanabe H"},{"name":"Katsuno M"},{"name":"Izumi Yuishin"},{"name":"Kanai K"},{"name":"Hattori N"},{"name":"Morita M"},{"name":"Taniguchi A"},{"name":"Kano O"},{"name":"Oda M"},{"name":"Shibuya K"},{"name":"Kuwabara S"},{"name":"Suzuki N"},{"name":"Aoki M"},{"name":"Ohta Y"},{"name":"Yamashita T"},{"name":"Abe K"},{"name":"Hashimoto R"},{"name":"Aiba I"},{"name":"Okamoto K"},{"name":"Mizoguchi K"},{"name":"Hasegawa K"},{"name":"Okada Y"},{"name":"Ishihara T"},{"name":"Onodera O"},{"name":"Nakashima K"},{"name":"Kaji Ryuji"},{"name":"Kamatani Y"},{"name":"Ikegawa S"},{"name":"Momozawa Y"},{"name":"Kubo M"},{"name":"Ishida N"},{"name":"Minegishi N"},{"name":"Nagasaki M"},{"name":"Sobue G"}],"ja":[{"name":"Nakamura R"},{"name":"Misawa K"},{"name":"Tohnai G"},{"name":"Nakatochi M"},{"name":"Furuhashi S"},{"name":"Atsuta N"},{"name":"Hayashi N"},{"name":"Yokoi D"},{"name":"Watanabe H"},{"name":"Katsuno M"},{"name":"和泉 唯信"},{"name":"Kanai K"},{"name":"Hattori N"},{"name":"Morita M"},{"name":"Taniguchi A"},{"name":"Kano O"},{"name":"Oda M"},{"name":"Shibuya K"},{"name":"Kuwabara S"},{"name":"Suzuki N"},{"name":"Aoki M"},{"name":"Ohta Y"},{"name":"Yamashita T"},{"name":"Abe K"},{"name":"Hashimoto R"},{"name":"Aiba I"},{"name":"Okamoto K"},{"name":"Mizoguchi K"},{"name":"Hasegawa K"},{"name":"Okada Y"},{"name":"Ishihara T"},{"name":"Onodera O"},{"name":"Nakashima K"},{"name":"梶 龍兒"},{"name":"Kamatani Y"},{"name":"Ikegawa S"},{"name":"Momozawa Y"},{"name":"Kubo M"},{"name":"Ishida N"},{"name":"Minegishi N"},{"name":"Nagasaki M"},{"name":"Sobue G"}]},"description":{"en":"Amyotrophic lateral sclerosis (ALS) is a devastating progressive motor neuron disease that affects people of all ethnicities. Approximately 90% of ALS cases are sporadic and thought to have multifactorial pathogenesis. To understand the genetics of sporadic ALS, we conducted a genome-wide association study using 1,173 sporadic ALS cases and 8,925 controls in a Japanese population. A combined meta-analysis of our Japanese cohort with individuals of European ancestry revealed a significant association at the ACSL5 locus (top SNP p = 2.97 × 10). We validated the association with ACSL5 in a replication study with a Chinese population and an independent Japanese population (1941 ALS cases, 3821 controls; top SNP p = 1.82 × 10). In the combined meta-analysis, the intronic ACSL5 SNP rs3736947 showed the strongest association (p = 7.81 × 10). Using a gene-based analysis of the full multi-ethnic dataset, we uncovered additional genes significantly associated with ALS: ERGIC1, RAPGEF5, FNBP1, and ATXN3. These results advance our understanding of the genetic basis of sporadic ALS.","ja":"Amyotrophic lateral sclerosis (ALS) is a devastating progressive motor neuron disease that affects people of all ethnicities. Approximately 90% of ALS cases are sporadic and thought to have multifactorial pathogenesis. To understand the genetics of sporadic ALS, we conducted a genome-wide association study using 1,173 sporadic ALS cases and 8,925 controls in a Japanese population. A combined meta-analysis of our Japanese cohort with individuals of European ancestry revealed a significant association at the ACSL5 locus (top SNP p = 2.97 × 10). We validated the association with ACSL5 in a replication study with a Chinese population and an independent Japanese population (1941 ALS cases, 3821 controls; top SNP p = 1.82 × 10). In the combined meta-analysis, the intronic ACSL5 SNP rs3736947 showed the strongest association (p = 7.81 × 10). Using a gene-based analysis of the full multi-ethnic dataset, we uncovered additional genes significantly associated with ALS: ERGIC1, RAPGEF5, FNBP1, and ATXN3. These results advance our understanding of the genetic basis of sporadic ALS."},"publication_date":"2020-09-23","publication_name":{"en":"Communications Biology","ja":"Communications Biology"},"volume":"Vol.3","number":"No.1","starting_page":"526","ending_page":"526","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1038/s42003-020-01251-2"],"issn":["2399-3642"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/116502","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/32942724","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=377527","label":"url"}],"paper_title":{"en":"Can Pallidal Deep Brain Stimulation Rescue Borderline Dystonia? Possible Coexistence of Functional (Psychogenic) and Organic Components.","ja":"Can Pallidal Deep Brain Stimulation Rescue Borderline Dystonia? Possible Coexistence of Functional (Psychogenic) and Organic Components."},"authors":{"en":[{"name":"Morigaki Ryoma"},{"name":"Miyamoto Ryosuke"},{"name":"Mure Hideo"},{"name":"Fujita Koji"},{"name":"Matsuda Taku"},{"name":"Yamamoto Yoko"},{"name":"Nakataki Masahito"},{"name":"Okahisa Tetsuya"},{"name":"Matsumoto Yuki"},{"name":"Miyake Kazuhisa"},{"name":"Yamamoto Nobuaki"},{"name":"Kaji Ryuji"},{"name":"Takagi Yasushi"},{"name":"Goto Satoshi"}],"ja":[{"name":"森垣 龍馬"},{"name":"宮本 亮介"},{"name":"牟礼 英生"},{"name":"藤田 浩司"},{"name":"Matsuda Taku"},{"name":"Yamamoto Yoko"},{"name":"中瀧 理仁"},{"name":"Okahisa Tetsuya"},{"name":"松元 友暉"},{"name":"三宅 一央"},{"name":"山本 伸昭"},{"name":"梶 龍兒"},{"name":"髙木 康志"},{"name":"後藤 惠"}]},"description":{"en":"The diagnosis and treatment of functional movement disorders are challenging for clinicians who manage patients with movement disorders. The borderline between functional and organic dystonia is often ambiguous. Patients with functional dystonia are poor responders to pallidal deep brain stimulation (DBS) and are not good candidates for DBS surgery. Thus, if patients with medically refractory dystonia have functional features, they are usually left untreated with DBS surgery. In order to investigate the outcome of functional dystonia in response to pallidal DBS surgery, we retrospectively included five patients with this condition. Their dystonia was diagnosed as organic by dystonia specialists and also as functional according to the Fahn and Williams criteria or the Gupta and Lang Proposed Revisions. Microelectrode recordings in the globus pallidus internus of all patients showed a cell-firing pattern of bursting with interburst intervals, which is considered typical of organic dystonia. Although their clinical course after DBS surgery was incongruent to organic dystonia, the outcome was good. Our results question the possibility to clearly differentiate functional dystonia from organic dystonia. We hypothesized that functional dystonia can coexist with organic dystonia, and that medically intractable dystonia with combined functional and organic features can be successfully treated by DBS surgery.","ja":"The diagnosis and treatment of functional movement disorders are challenging for clinicians who manage patients with movement disorders. The borderline between functional and organic dystonia is often ambiguous. Patients with functional dystonia are poor responders to pallidal deep brain stimulation (DBS) and are not good candidates for DBS surgery. Thus, if patients with medically refractory dystonia have functional features, they are usually left untreated with DBS surgery. In order to investigate the outcome of functional dystonia in response to pallidal DBS surgery, we retrospectively included five patients with this condition. Their dystonia was diagnosed as organic by dystonia specialists and also as functional according to the Fahn and Williams criteria or the Gupta and Lang Proposed Revisions. Microelectrode recordings in the globus pallidus internus of all patients showed a cell-firing pattern of bursting with interburst intervals, which is considered typical of organic dystonia. Although their clinical course after DBS surgery was incongruent to organic dystonia, the outcome was good. Our results question the possibility to clearly differentiate functional dystonia from organic dystonia. We hypothesized that functional dystonia can coexist with organic dystonia, and that medically intractable dystonia with combined functional and organic features can be successfully treated by DBS surgery."},"publication_date":"2020-09-15","publication_name":{"en":"Brain Sciences","ja":"Brain Sciences"},"volume":"Vol.10","number":"No.9","starting_page":"636","ending_page":"636","languages":["eng"],"referee":true,"identifiers":{"doi":["10.3390/brainsci10090636"],"issn":["2076-3425"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/33043083","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=377336","label":"url"}],"paper_title":{"en":"Efficacy of Istradefylline for the Treatment of ADCY5-Related Disease","ja":"Efficacy of Istradefylline for the Treatment of ADCY5-Related Disease"},"authors":{"en":[{"name":"Miyamoto Ryosuke"},{"name":"Kawarai Toshitaka"},{"name":"Takeuchi T"},{"name":"Izumi Yuishin"},{"name":"Goto Satoshi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"宮本 亮介"},{"name":"瓦井 俊孝"},{"name":"Takeuchi T"},{"name":"和泉 唯信"},{"name":"後藤 惠"},{"name":"梶 龍兒"}]},"description":{"en":"View Supplementary Video 1 View Supplementary Video 2.","ja":"View Supplementary Video 1 View Supplementary Video 2."},"publication_date":"2020-09-07","publication_name":{"en":"Movement Disorders Clinical Practice","ja":"Movement Disorders Clinical Practice"},"volume":"Vol.7","number":"No.7","starting_page":"852","ending_page":"853","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1002/mdc3.13067"],"issn":["2330-1619"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/31937581","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85077977240&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=366279","label":"url"}],"paper_title":{"en":"Prognosis of Amyotrophic Lateral Sclerosis Patients Undergoing Tracheostomy Invasive Ventilation Therapy in Japan","ja":"Prognosis of Amyotrophic Lateral Sclerosis Patients Undergoing Tracheostomy Invasive Ventilation Therapy in Japan"},"authors":{"en":[{"name":"Hayashi N"},{"name":"Atsuta N"},{"name":"Yokoi D"},{"name":"Nakamura R"},{"name":"Nakatochi M"},{"name":"Katsuno M"},{"name":"Izumi Yuishin"},{"name":"Kanai K"},{"name":"Hattori N"},{"name":"Taniguchi A"},{"name":"Morita M"},{"name":"Kano O"},{"name":"Shibuya K"},{"name":"Kuwabara S"},{"name":"Suzuki N"},{"name":"Aoki M"},{"name":"Aiba I"},{"name":"Mizoguchi K"},{"name":"Oda M"},{"name":"Kaji Ryuji"},{"name":"Sobue G"}],"ja":[{"name":"Hayashi N"},{"name":"Atsuta N"},{"name":"Yokoi D"},{"name":"Nakamura R"},{"name":"Nakatochi M"},{"name":"Katsuno M"},{"name":"和泉 唯信"},{"name":"Kanai K"},{"name":"Hattori N"},{"name":"Taniguchi A"},{"name":"Morita M"},{"name":"Kano O"},{"name":"Shibuya K"},{"name":"Kuwabara S"},{"name":"Suzuki N"},{"name":"Aoki M"},{"name":"Aiba I"},{"name":"Mizoguchi K"},{"name":"Oda M"},{"name":"梶 龍兒"},{"name":"Sobue G"}]},"description":{"en":"The aim of this study is to describe and clarify the factors affecting the prognosis of Japanese patients with amyotrophic lateral sclerosis (ALS) undergoing tracheostomy invasive ventilation (TIV) therapy. We conducted a prospective longitudinal observational case-control study using a multicentre registry. ALS patients who started TIV therapy after registration (TIV group) and those who did not receive TIV (non-TIV group) were included. We compared the survival time between the TIV group and the non-TIV group using a propensity score matching analysis and evaluated the prognostic factors in the TIV group. From February 2006 to January 2018, 190 patients in the TIV group and 1093 patients in the non-TIV group were included in this study. The mean age of disease onset and usage rate of gastrostomy and non-invasive ventilation therapy differed between the groups. In the propensity score matching analysis using known prognostic factors, the median overall survival time of the TIV group was significantly greater than that of the non-TIV group (11.33 years vs 4.61 years; p<0.001). Analysis using the Cox proportional hazard model suggested that older age of onset and respiratory onset was an independent factor for poor prognosis after starting TIV therapy. We showed that there was a significant difference of approximately 7 years in life expectancy between Japanese ALS patients who did and did not receive TIV therapy.","ja":"The aim of this study is to describe and clarify the factors affecting the prognosis of Japanese patients with amyotrophic lateral sclerosis (ALS) undergoing tracheostomy invasive ventilation (TIV) therapy. We conducted a prospective longitudinal observational case-control study using a multicentre registry. ALS patients who started TIV therapy after registration (TIV group) and those who did not receive TIV (non-TIV group) were included. We compared the survival time between the TIV group and the non-TIV group using a propensity score matching analysis and evaluated the prognostic factors in the TIV group. From February 2006 to January 2018, 190 patients in the TIV group and 1093 patients in the non-TIV group were included in this study. The mean age of disease onset and usage rate of gastrostomy and non-invasive ventilation therapy differed between the groups. In the propensity score matching analysis using known prognostic factors, the median overall survival time of the TIV group was significantly greater than that of the non-TIV group (11.33 years vs 4.61 years; p<0.001). Analysis using the Cox proportional hazard model suggested that older age of onset and respiratory onset was an independent factor for poor prognosis after starting TIV therapy. We showed that there was a significant difference of approximately 7 years in life expectancy between Japanese ALS patients who did and did not receive TIV therapy."},"publication_date":"2020-03","publication_name":{"en":"Journal of Neurology, Neurosurgery, and Psychiatry","ja":"Journal of Neurology, Neurosurgery, and Psychiatry"},"volume":"Vol.91","number":"No.3","starting_page":"285","ending_page":"290","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1136/jnnp-2019-322213"],"issn":["1468-330X"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/31865188","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85076518855&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=366287","label":"url"}],"paper_title":{"en":"Differences in Cerebellar Perfusion Between Parkinson's Disease and Multiple System Atrophy","ja":"Differences in Cerebellar Perfusion Between Parkinson's Disease and Multiple System Atrophy"},"authors":{"en":[{"name":"Murakami Nagahisa"},{"name":"Sako Wataru"},{"name":"Haji Shotaroh"},{"name":"Furukawa T"},{"name":"Otomi Y"},{"name":"Otsuka H"},{"name":"Izumi Yuishin"},{"name":"Harada Masafumi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"村上 永久"},{"name":"佐光 亘"},{"name":"土師 正太郎"},{"name":"Furukawa T"},{"name":"Otomi Y"},{"name":"Otsuka H"},{"name":"和泉 唯信"},{"name":"原田 雅史"},{"name":"梶 龍兒"}]},"description":{"en":"Objective biomarkers are required for differential diagnosis of Parkinson's disease (PD), multiple system atrophy (MSA) and progressive supranuclear palsy (PSP). We aimed to determine if cerebellar blood flow, measured using N-isopropyl-[I] p-iodoamphetamine single photon emission computed tomography (I -IMP-SPECT), was useful for differentiating between PD, MSA and PSP. Twenty-four patients with PD, seventeen patients with MSA with predominant parkinsonian features (MSA-P), sixteenth patients with MSA with predominant cerebellar ataxia (MSA-C) and eight patients with PSP were enrolled. Twenty-seven normal controls' data were used for the calculation of z score. All patients underwent I -IMP-SPECT, and data were analyzed using a three-dimensional-stereotactic surface projection program. Cerebellar perfusion in MSA-P (MSA-P vs PD, P = .002; MSA-P vs PSP, P < .001) and MSA-C (MSA-C vs PD, P < .001; MSA-C vs PSP, P < .001) were significantly decreased compared with PD or PSP. There was no significant difference in perfusion between PD and PSP groups (P = .061). The area under the receiver operating characteristic curve for cerebellar perfusion between MSA-P and PD was 0.858. Our findings revealed that cerebellar perfusion by I-IMP-SPECT was useful for differentiating between PD and MSA-P.","ja":"Objective biomarkers are required for differential diagnosis of Parkinson's disease (PD), multiple system atrophy (MSA) and progressive supranuclear palsy (PSP). We aimed to determine if cerebellar blood flow, measured using N-isopropyl-[I] p-iodoamphetamine single photon emission computed tomography (I -IMP-SPECT), was useful for differentiating between PD, MSA and PSP. Twenty-four patients with PD, seventeen patients with MSA with predominant parkinsonian features (MSA-P), sixteenth patients with MSA with predominant cerebellar ataxia (MSA-C) and eight patients with PSP were enrolled. Twenty-seven normal controls' data were used for the calculation of z score. All patients underwent I -IMP-SPECT, and data were analyzed using a three-dimensional-stereotactic surface projection program. Cerebellar perfusion in MSA-P (MSA-P vs PD, P = .002; MSA-P vs PSP, P < .001) and MSA-C (MSA-C vs PD, P < .001; MSA-C vs PSP, P < .001) were significantly decreased compared with PD or PSP. There was no significant difference in perfusion between PD and PSP groups (P = .061). The area under the receiver operating characteristic curve for cerebellar perfusion between MSA-P and PD was 0.858. Our findings revealed that cerebellar perfusion by I-IMP-SPECT was useful for differentiating between PD and MSA-P."},"publication_date":"2020-02-15","publication_name":{"en":"Journal of the Neurological Sciences","ja":"Journal of the Neurological Sciences"},"volume":"Vol.409","starting_page":"116627","ending_page":"116627","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.jns.2019.116627"],"issn":["1878-5883"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/31722312","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85074961295&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=366238","label":"url"}],"paper_title":{"en":"JETALS: The Japanese Early-stage Trial of high dose methylcobalamin for ALS","ja":"メコバラミン"},"authors":{"en":[{"name":"Izumi Yuishin"},{"name":"Oki Ryosuke"},{"name":"Kuwabara Satoshi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"和泉 唯信"},{"name":"Oki Ryosuke"},{"name":"Kuwabara Satoshi"},{"name":"梶 龍兒"}]},"description":{"en":"High-dose methylcobalamin was found to be a therapeutic candidate for amyotrophic lateral sclerosis (ALS) through clinical experience. Our previous study (E0302-J081-761) has suggested that high-dose methylcobalamin (E0302) prolonged the overall survival and suppressed progression in ALS patients with a disease duration less than 12 months in, exploratory analyses. Therefore, we plan to conduct an investigator-initiated trial \"The Japan Early-stage Trial of high dose methylcobalamin for ALS (JETALS)\" to evaluate the efficacy and safety of E0302 for ALS patients within 12 months from onset. JETALS is a prospective, multicenter, placebo-controlled, double-blind, randomized Phase III study, conducted at 25 tertiary neurology centers, and is funded by the Japan Agency for Medical Research and Development. A total of 128 patients were randomized at a 1:1 ratio to receive intramuscular injection with E0302 50 mg or placebo, twice a week for 16 weeks. The primary endpoint is changes in the ALS Functional Rating Scale (ALSFRS-R) total score at 16 weeks. The patient enrollment period is from November 2017 to September 2019, and the follow-up is scheduled to end in March 2020. If the results are positive, we intend to apply for E0302 approval for methylcobalamin as a new drug for treating ALS.","ja":"高用量メコバラミンは臨床経験をとおして筋萎縮性側索硬化症(ALS)に対する有効性が示唆され,第Ⅱ/Ⅲ相試験(E0302-J081-761)において部分解析ではあるが発症1年以内のALS患者に対して生存期間延長とALS機能評価スケール(ALSFRS-R)合計点数の低下の抑制効果が認められた.今回われわれは発症1年以内のALS患者に対する高用量メコバラミン(E0302)の有効性・安全性の検証を目的として「高用量E0302の筋萎縮性側索硬化症に対する第Ⅲ相試験—医師主導治験—」(JETALS)を開始した.本治験は前向き,多施設共同,プラセボ対象,二重盲検,ランダム化比較第Ⅲ相試験であり,国内25施設が参加する.128例の被験者に対して16週にわたりE0302 50mgもしくはプラセボの週2回筋肉注射を行う.主要評価項目は割付日から16週目までのALSFRS-R合計点数の変化量である.症例登録期間は2017年11月∼2019年9月であり,2020年3月に治験終了予定である.有効性が確認され早期に承認されることが期待される."},"publication_date":"2019-11","publication_name":{"en":"Brain and Nerve = Shinkei kenkyū no shinpo","ja":"脳と神経 - 神経研究の進歩"},"volume":"Vol.71","number":"No.11","starting_page":"1261","ending_page":"1269","languages":["jpn"],"referee":true,"identifiers":{"doi":["10.11477/mf.1416201436"],"issn":["1881-6096"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/31422281","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85070573368&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=366239","label":"url"}],"paper_title":{"en":"Lesser motor disability in adulthood: A ten-year follow-up of a dyskinetic patient with ADCY5 mutation","ja":"Lesser motor disability in adulthood: A ten-year follow-up of a dyskinetic patient with ADCY5 mutation"},"authors":{"en":[{"name":"Kawarai Toshitaka"},{"name":"Orlacchio Antonio"},{"name":"Kaji Ryuji"}],"ja":[{"name":"瓦井 俊孝"},{"name":"Orlacchio Antonio"},{"name":"梶 龍兒"}]},"publication_date":"2019-07","publication_name":{"en":"Journal of the Neurological Sciences","ja":"Journal of the Neurological Sciences"},"volume":"Vol.405","starting_page":"116383","ending_page":"116383","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.jns.2019.07.001"],"issn":["1878-5883"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/114373","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/31319800","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=356565","label":"url"}],"paper_title":{"en":"Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report.","ja":"Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report."},"authors":{"en":[{"name":"Fujita Koji"},{"name":"Matsubara Tomoyasu"},{"name":"Miyamoto Ryosuke"},{"name":"Sumikura Hiroyuki"},{"name":"Takeuchi Toshiaki"},{"name":"Maruyama Saladini Keiko"},{"name":"Kawarai Toshitaka"},{"name":"Nodera Hiroyuki"},{"name":"Udaka Fukashi"},{"name":"Kume Kodai"},{"name":"Morino Hiroyuki"},{"name":"Kawakami Hideshi"},{"name":"Hasegawa Masato"},{"name":"Kaji Ryuji"},{"name":"Murayama Shigeo"},{"name":"Izumi Yuishin"}],"ja":[{"name":"藤田 浩司"},{"name":"Matsubara Tomoyasu"},{"name":"宮本 亮介"},{"name":"Sumikura Hiroyuki"},{"name":"Takeuchi Toshiaki"},{"name":"Maruyama Saladini Keiko"},{"name":"瓦井 俊孝"},{"name":"野寺 裕之"},{"name":"Udaka Fukashi"},{"name":"Kume Kodai"},{"name":"Morino Hiroyuki"},{"name":"Kawakami Hideshi"},{"name":"Hasegawa Masato"},{"name":"梶 龍兒"},{"name":"Murayama Shigeo"},{"name":"和泉 唯信"}]},"description":{"en":"Our case demonstrates the clinicopathological comorbidity of PSP and ALS in a sporadic patient. The possibility of multiple proteinopathies should be considered when distinct symptoms develop during the disease course.","ja":"A 77-year-old man presented with gait disturbance for 2 years, consistent with PSP with progressive gait freezing. At 79 years old, he developed muscle weakness compatible with ALS. The disease duration was 5 years after the onset of PSP and 5 months after the onset of ALS. Neuropathological findings demonstrated the coexistence of PSP and ALS. Immunohistochemical examination confirmed 4-repeat tauopathy, including globose-type neurofibrillary tangles, tufted astrocytes, and oligodendroglial coiled bodies as well as TAR DNA-binding protein 43 kDa pathology in association with upper and lower motor neuron degeneration. Immunoblotting showed hyperphosphorylated full-length 4-repeat tau bands (64 and 68 kDa) and C-terminal fragments (33 kDa), supporting the diagnosis of PSP and excluding other parkinsonian disorders, such as corticobasal degeneration. Genetic studies showed no abnormalities in genes currently known to be related to ALS or PSP."},"publication_date":"2019-07-18","publication_name":{"en":"BMC Neurology","ja":"BMC Neurology"},"volume":"Vol.19","number":"No.1","starting_page":"168","ending_page":"168","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1186/s12883-019-1402-7"],"issn":["1471-2377"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/31225648","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85067842485&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=366257","label":"url"}],"paper_title":{"en":"A method for differential diagnosis of parkinsonian syndromes","ja":"A method for differential diagnosis of parkinsonian syndromes"},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Abe Takashi"},{"name":"Haji Shotaroh"},{"name":"Murakami Nagahisa"},{"name":"Osaki Yusuke"},{"name":"Izumi Yuishin"},{"name":"Harada Masafumi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"佐光 亘"},{"name":"阿部 考志"},{"name":"土師 正太郎"},{"name":"村上 永尚"},{"name":"大崎 裕亮"},{"name":"和泉 唯信"},{"name":"原田 雅史"},{"name":"梶 龍兒"}]},"description":{"en":"Neurological findings are important for the differential diagnosis of Parkinson's disease (PD), multiple system atrophy with predominant parkinsonian features (MSA-P), and progressive supranuclear palsy (PSP). There is currently no fast and reliable method to distinguish these patients. To address this, we propose a novel approach to measure midbrain and pons size using a longitudinal \"one line\" method from the mid-sagittal view. Structural images were acquired from 101 subjects who underwent 3.0 T MRI (20 controls, 44 PD, 20 MSA, 12 PSP, and 5 corticobasal syndrome). We measured the middle cerebellar peduncle (MCP), superior cerebellar peduncle (SCP), midbrain, and pons. Brainstem size was measured by area or length of the longitudinal axis, which we named the \"one line\" method. We conducted intraclass correlation coefficients to assess the extent of agreement and consistency among raters, and receiver operating characteristic curves were used to determine diagnostic accuracy. Intraclass correlation coefficients (ICC) of MCP width were excellent in sagittal and axial sections while those of SCP width were moderate. There were also excellent ICCs between raters for \"one line\" method of the midbrain and pons, while areas showed good ICCs. \"One line\" method and area of the midbrain were better than SCP width for the differential diagnosis of PSP from MSA-P and PD. In contrast, there was no clearly superior measurement for differentially diagnosing MSA-P. The \"one line\" method was comparable with area for inter-rater agreement and diagnostic accuracy even though this was a simple and fast way.","ja":"Neurological findings are important for the differential diagnosis of Parkinson's disease (PD), multiple system atrophy with predominant parkinsonian features (MSA-P), and progressive supranuclear palsy (PSP). There is currently no fast and reliable method to distinguish these patients. To address this, we propose a novel approach to measure midbrain and pons size using a longitudinal \"one line\" method from the mid-sagittal view. Structural images were acquired from 101 subjects who underwent 3.0 T MRI (20 controls, 44 PD, 20 MSA, 12 PSP, and 5 corticobasal syndrome). We measured the middle cerebellar peduncle (MCP), superior cerebellar peduncle (SCP), midbrain, and pons. Brainstem size was measured by area or length of the longitudinal axis, which we named the \"one line\" method. We conducted intraclass correlation coefficients to assess the extent of agreement and consistency among raters, and receiver operating characteristic curves were used to determine diagnostic accuracy. Intraclass correlation coefficients (ICC) of MCP width were excellent in sagittal and axial sections while those of SCP width were moderate. There were also excellent ICCs between raters for \"one line\" method of the midbrain and pons, while areas showed good ICCs. \"One line\" method and area of the midbrain were better than SCP width for the differential diagnosis of PSP from MSA-P and PD. In contrast, there was no clearly superior measurement for differentially diagnosing MSA-P. The \"one line\" method was comparable with area for inter-rater agreement and diagnostic accuracy even though this was a simple and fast way."},"publication_date":"2019-06-21","publication_name":{"en":"Acta Neurologica Scandinavica","ja":"Acta Neurologica Scandinavica"},"volume":"Vol.140","number":"No.3","starting_page":"229","ending_page":"235","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1111/ane.13136"],"issn":["1600-0404"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/31009854","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85064459749&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=366269","label":"url"}],"paper_title":{"en":"Deterministic-tractography-based approach for diagnosis and disease monitoring of amyotrophic lateral sclerosis","ja":"Deterministic-tractography-based approach for diagnosis and disease monitoring of amyotrophic lateral sclerosis"},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Abe Takashi"},{"name":"Izumi Yuishin"},{"name":"Harada Masafumi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"佐光 亘"},{"name":"阿部 考志"},{"name":"和泉 唯信"},{"name":"原田 雅史"},{"name":"梶 龍兒"}]},"description":{"en":"Upper and lower motor neuron signs are required for the diagnosis of amyotrophic lateral sclerosis. The detection of upper motor neuron signs is key for the diagnosis, as quite a few patients with amyotrophic lateral sclerosis lack upper motor neuron signs during the course of disease. This study sought to investigate whether deterministic tractography of the corticospinal tract, reflecting upper motor neuron signs, could be a surrogate biomarker for amyotrophic lateral sclerosis. Fifteen patients with amyotrophic lateral sclerosis and ten controls underwent imaging on a 3.0 T MRI. The corticospinal tract was reconstructed using deterministic tractography, and the track number was calculated. We analyzed the differences between the groups and the relationship between the track number and disease severity, disease duration, progression rate or upper motor neuron signs. A reduction in the track number of the corticospinal tract was found in amyotrophic lateral sclerosis compared with controls (Student's t test, P = 0.008). The sensitivity and specificity were 0.67 and 0.9, respectively. The track number correlated with disease severity alone (r = 0.71, P = 0.003), and significantly associated with upper motor neuron signs (P = 0.004). These findings suggest that the deterministic-tractography-based approach is a potential biomarker for the diagnosis and disease monitoring of amyotrophic lateral sclerosis.","ja":"Upper and lower motor neuron signs are required for the diagnosis of amyotrophic lateral sclerosis. The detection of upper motor neuron signs is key for the diagnosis, as quite a few patients with amyotrophic lateral sclerosis lack upper motor neuron signs during the course of disease. This study sought to investigate whether deterministic tractography of the corticospinal tract, reflecting upper motor neuron signs, could be a surrogate biomarker for amyotrophic lateral sclerosis. Fifteen patients with amyotrophic lateral sclerosis and ten controls underwent imaging on a 3.0 T MRI. The corticospinal tract was reconstructed using deterministic tractography, and the track number was calculated. We analyzed the differences between the groups and the relationship between the track number and disease severity, disease duration, progression rate or upper motor neuron signs. A reduction in the track number of the corticospinal tract was found in amyotrophic lateral sclerosis compared with controls (Student's t test, P = 0.008). The sensitivity and specificity were 0.67 and 0.9, respectively. The track number correlated with disease severity alone (r = 0.71, P = 0.003), and significantly associated with upper motor neuron signs (P = 0.004). These findings suggest that the deterministic-tractography-based approach is a potential biomarker for the diagnosis and disease monitoring of amyotrophic lateral sclerosis."},"publication_date":"2019-04-15","publication_name":{"en":"Clinical Neurology and Neurosurgery","ja":"Clinical Neurology and Neurosurgery"},"volume":"Vol.181","starting_page":"73","ending_page":"75","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.clineuro.2019.04.015"],"issn":["1872-6968"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/114903","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/31031701","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85067834785&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=366241","label":"url"}],"paper_title":{"en":"Potential Utility of 123I-MIBG Scintigraphy as a Predictor of Falls in Parkinson's Disease","ja":"Potential Utility of 123I-MIBG Scintigraphy as a Predictor of Falls in Parkinson's Disease"},"authors":{"en":[{"name":"Murakami Nagahisa"},{"name":"Sako Wataru"},{"name":"Haji Shotaroh"},{"name":"Furukawa Takahiro"},{"name":"Otomi Yoichi"},{"name":"Otsuka Hideki"},{"name":"Izumi Yuishin"},{"name":"Harada Masafumi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"村上 永久"},{"name":"佐光 亘"},{"name":"土師 正太郎"},{"name":"Furukawa Takahiro"},{"name":"Otomi Yoichi"},{"name":"大塚 秀樹"},{"name":"和泉 唯信"},{"name":"原田 雅史"},{"name":"梶 龍兒"}]},"description":{"en":"Falls are associated with poor prognosis in patients with Parkinson's disease (PD). Although several factors related to falls were reported in patients with PD, objective predictors of falls are not identified. We aimed to determine whether I-meta-iodobenzylguanidine (MIBG) cardiac scintigraphy could be a useful biomarker to predict falls. Forty-five patients with PD were enrolled in this study. These subjects were followed up more than 5 years after MIBG scintigraphy and were divided into two groups: one with decreased uptake of MIBG and the other without decreased uptake of MIBG. The cut-off value for the delayed heart-to-mediastinum ratio was 1.8. Kaplan-Meier analysis and a log-rank test were performed to test the predictive power of MIBG cardiac scintigraphy for falls. Univariate analysis was selected because we did not have appropriate data for adjustment, such as motor and cognitive assessment. The group with decreased uptake of MIBG had a significantly higher incidence of falls than that without decreased uptake of MIBG ( = 0.022, log-rank test). Although the limitations of this study were lack of several key factors including motor and cognitive assessment, MIBG cardiac scintigraphy may be used to predict falls in patients with PD.","ja":"Falls are associated with poor prognosis in patients with Parkinson's disease (PD). Although several factors related to falls were reported in patients with PD, objective predictors of falls are not identified. We aimed to determine whether I-meta-iodobenzylguanidine (MIBG) cardiac scintigraphy could be a useful biomarker to predict falls. Forty-five patients with PD were enrolled in this study. These subjects were followed up more than 5 years after MIBG scintigraphy and were divided into two groups: one with decreased uptake of MIBG and the other without decreased uptake of MIBG. The cut-off value for the delayed heart-to-mediastinum ratio was 1.8. Kaplan-Meier analysis and a log-rank test were performed to test the predictive power of MIBG cardiac scintigraphy for falls. Univariate analysis was selected because we did not have appropriate data for adjustment, such as motor and cognitive assessment. The group with decreased uptake of MIBG had a significantly higher incidence of falls than that without decreased uptake of MIBG ( = 0.022, log-rank test). Although the limitations of this study were lack of several key factors including motor and cognitive assessment, MIBG cardiac scintigraphy may be used to predict falls in patients with PD."},"publication_date":"2019-04-12","publication_name":{"en":"Frontiers in Neurology","ja":"Frontiers in Neurology"},"volume":"Vol.10","starting_page":"376","ending_page":"376","languages":["eng"],"referee":true,"identifiers":{"doi":["10.3389/fneur.2019.00376"],"issn":["1664-2295"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/31122831","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85065707113&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=352342","label":"url"}],"paper_title":{"en":"PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability.","ja":"PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability."},"authors":{"en":[{"name":"Kawarai Toshitaka"},{"name":"Yamazaki Hiroki"},{"name":"Miyamoto Ryosuke"},{"name":"Takamatsu Naoko"},{"name":"Mori Atsuko"},{"name":"Osaki Yusuke"},{"name":"Orlacchio Antonio"},{"name":"Nodera Hiroyuki"},{"name":"Hashiguchi Akihiro"},{"name":"Higuchi Yujiro"},{"name":"Yoshimura Akiko"},{"name":"Takashima Hiroshi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"瓦井 俊孝"},{"name":"山﨑 博輝"},{"name":"宮本 亮介"},{"name":"Takamatsu Naoko"},{"name":"Mori Atsuko"},{"name":"大崎 裕亮"},{"name":"Orlacchio Antonio"},{"name":"野寺 裕之"},{"name":"Hashiguchi Akihiro"},{"name":"Higuchi Yujiro"},{"name":"Yoshimura Akiko"},{"name":"Takashima Hiroshi"},{"name":"梶 龍兒"}]},"description":{"en":"PMP22 is the most frequent mutated gene in Charcot-Marie-Tooth disease (CMT) type 1A. Another phenotype, hereditary neuropathy with pressure palsies (HNPP), could be caused by PMP22 mutations. PMP22 encodes a peripheral myelin protein with molecular weight 22-kDa. Various pathomechanisms have been postulated in PMP22-related disease, including dysfunction due to missense mutations, and alteration of a gene dose due to duplication/deletion mutations. We identified a novel PMP22 splice site acceptor variant, c.179-1G>A, in a patient with adult-onset chronic generalized polyneuropathy and two asymptomatic family members. Pathophysiological features of the members mainly overlapped with those reported in HNPP, but broad intrafamilial clinical variations were observed. PMP22 transcripts lacking of exon 4 were produced by the variant, presumably leading to in-frame deletion of 47 amino acids. The variant was also shown to exert effect on dosage of PMP22 mRNA. The complex molecular pathology would lead to the unique clinical and pathophysiological conditions.","ja":"PMP22 is the most frequent mutated gene in Charcot-Marie-Tooth disease (CMT) type 1A. Another phenotype, hereditary neuropathy with pressure palsies (HNPP), could be caused by PMP22 mutations. PMP22 encodes a peripheral myelin protein with molecular weight 22-kDa. Various pathomechanisms have been postulated in PMP22-related disease, including dysfunction due to missense mutations, and alteration of a gene dose due to duplication/deletion mutations. We identified a novel PMP22 splice site acceptor variant, c.179-1G>A, in a patient with adult-onset chronic generalized polyneuropathy and two asymptomatic family members. Pathophysiological features of the members mainly overlapped with those reported in HNPP, but broad intrafamilial clinical variations were observed. PMP22 transcripts lacking of exon 4 were produced by the variant, presumably leading to in-frame deletion of 47 amino acids. The variant was also shown to exert effect on dosage of PMP22 mRNA. The complex molecular pathology would lead to the unique clinical and pathophysiological conditions."},"publication_date":"2019-03-28","publication_name":{"en":"Neuromuscular Disorders","ja":"Neuromuscular Disorders"},"volume":"Vol.26","number":"No.6","starting_page":"422","ending_page":"426","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.nmd.2019.03.010"],"issn":["1873-2364"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/30928779","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85063409926&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=366256","label":"url"}],"paper_title":{"en":"Differences in the intra-cerebellar connections and graph theoretical measures between Parkinson's disease and multiple system atrophy","ja":"Differences in the intra-cerebellar connections and graph theoretical measures between Parkinson's disease and multiple system atrophy"},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Abe Takashi"},{"name":"Furukawa T"},{"name":"Oki R"},{"name":"Haji Shotaroh"},{"name":"Murakami Nagahisa"},{"name":"Izumi Yuishin"},{"name":"Harada Masafumi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"佐光 亘"},{"name":"阿部 考志"},{"name":"Furukawa T"},{"name":"沖 良祐"},{"name":"土師 正太郎"},{"name":"村上 永尚"},{"name":"和泉 唯信"},{"name":"原田 雅史"},{"name":"梶 龍兒"}]},"description":{"en":"Parkinson's disease (PD) does not present with motor symptoms until dopaminergic neuronal loss exceeds 50%. This might indicate that a network-level compensatory mechanism involving surviving regions in PD acts to reduce brain abnormalities. In contrast, there is no evidence of a compensatory mechanism in multiple system atrophy (MSA). We hypothesized that a comparison of these two diseases would help to identify compensatory effects in PD. We recruited 23 patients with PD, 11 patients with MSA, and 11 controls that showed an aging brain but no neurological deficits. All subjects underwent resting state functional magnetic resonance imaging (fMRI). Regions of interest were defined according to the motor network related to the basal ganglia and cerebellum. Network-level analyses were performed. Network-based statistical analyses revealed that functional connectivity in PD brains was reduced between cerebellar lobules IX on both sides and vermis X, as compared with MSA brains. Transitivity was reduced in MSA as compared with controls. We demonstrated that a part of the intra-cerebellar connectivity was reduced in PD, and that network segregation was reduced in MSA. However, there was no evidence of compensatory effects in PD.","ja":"Parkinson's disease (PD) does not present with motor symptoms until dopaminergic neuronal loss exceeds 50%. This might indicate that a network-level compensatory mechanism involving surviving regions in PD acts to reduce brain abnormalities. In contrast, there is no evidence of a compensatory mechanism in multiple system atrophy (MSA). We hypothesized that a comparison of these two diseases would help to identify compensatory effects in PD. We recruited 23 patients with PD, 11 patients with MSA, and 11 controls that showed an aging brain but no neurological deficits. All subjects underwent resting state functional magnetic resonance imaging (fMRI). Regions of interest were defined according to the motor network related to the basal ganglia and cerebellum. Network-level analyses were performed. Network-based statistical analyses revealed that functional connectivity in PD brains was reduced between cerebellar lobules IX on both sides and vermis X, as compared with MSA brains. Transitivity was reduced in MSA as compared with controls. We demonstrated that a part of the intra-cerebellar connectivity was reduced in PD, and that network segregation was reduced in MSA. However, there was no evidence of compensatory effects in PD."},"publication_date":"2019-03-25","publication_name":{"en":"Journal of the Neurological Sciences","ja":"Journal of the Neurological Sciences"},"volume":"Vol.400","starting_page":"129","ending_page":"134","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.jns.2019.03.022"],"issn":["1878-5883"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/30870796","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85062625222&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=366246","label":"url"}],"paper_title":{"en":"Deep learning for waveform identification of resting needle electromyography signals","ja":"Deep learning for waveform identification of resting needle electromyography signals"},"authors":{"en":[{"name":"Nodera Hiroyuki"},{"name":"Osaki Y"},{"name":"Yamazaki Hiroki"},{"name":"Mori A"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"野寺 裕之"},{"name":"Osaki Y"},{"name":"山﨑 博輝"},{"name":"Mori A"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"Given the recent advent in machine learning and artificial intelligence on medical data analysis, we hypothesized that the deep learning algorithm can classify resting needle electromyography (n-EMG) discharges. Six clinically observed resting n-EMG signals were used as a dataset. The data were converted to Mel-spectrogram. Data augmentation was then applied to the training data. Deep learning algorithms were applied to assess the accuracies of correct classification, with or without the use of pre-trained weights for deep-learning networks. While the original data yielded the accuracy up to 0.86 on the test dataset, data-augmentation up to 200,000 training images showed significant increase in the accuracy to 1.0. The use of pre-trained weights (fine tuning) showed greater accuracy than \"training from scratch\". Resting n-EMG signals were successfully classified by deep-learning algorithm, especially with the use of data augmentation and transfer learning techniques. Computer-aided signal identification of clinical n-EMG testing might be possible by deep-learning algorithms.","ja":"Given the recent advent in machine learning and artificial intelligence on medical data analysis, we hypothesized that the deep learning algorithm can classify resting needle electromyography (n-EMG) discharges. Six clinically observed resting n-EMG signals were used as a dataset. The data were converted to Mel-spectrogram. Data augmentation was then applied to the training data. Deep learning algorithms were applied to assess the accuracies of correct classification, with or without the use of pre-trained weights for deep-learning networks. While the original data yielded the accuracy up to 0.86 on the test dataset, data-augmentation up to 200,000 training images showed significant increase in the accuracy to 1.0. The use of pre-trained weights (fine tuning) showed greater accuracy than \"training from scratch\". Resting n-EMG signals were successfully classified by deep-learning algorithm, especially with the use of data augmentation and transfer learning techniques. Computer-aided signal identification of clinical n-EMG testing might be possible by deep-learning algorithms."},"publication_date":"2019-02-23","publication_name":{"en":"Clinical Neurophysiology","ja":"Clinical Neurophysiology"},"volume":"Vol.130","number":"No.5","starting_page":"617","ending_page":"623","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.clinph.2019.01.024"],"issn":["1872-8952"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/115067","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/30777884","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85062006049&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=366244","label":"url"}],"paper_title":{"en":"MiR-33a is a therapeutic target in SPG4-related hereditary spastic paraplegia human neurons","ja":"MiR-33a is a therapeutic target in SPG4-related hereditary spastic paraplegia human neurons"},"authors":{"en":[{"name":"Nakazeki Fumiko"},{"name":"Tsuge Itaru"},{"name":"Horie Takahiro"},{"name":"Imamura Keiko"},{"name":"Tsukita Kayoko"},{"name":"Hotta Akitsu"},{"name":"Baba Osamu"},{"name":"Kuwabara Yasuhide"},{"name":"Nishino Tomohiro"},{"name":"Nakao Tetsushi"},{"name":"Nishiga Masataka"},{"name":"Nishi Hitoo"},{"name":"Nakashima Yasuhiro"},{"name":"Ide Yuya"},{"name":"Koyama Satoshi"},{"name":"Kimura Masahiro"},{"name":"Tsuji Shuhei"},{"name":"Naitoh Motoko"},{"name":"Suzuki Shigehiko"},{"name":"Izumi Yuishin"},{"name":"Kawarai Toshitaka"},{"name":"Kaji Ryuji"},{"name":"Kimura Takeshi"},{"name":"Inoue Haruhisa"},{"name":"Ono Koh"}],"ja":[{"name":"Nakazeki Fumiko"},{"name":"Tsuge Itaru"},{"name":"Horie Takahiro"},{"name":"Imamura Keiko"},{"name":"Tsukita Kayoko"},{"name":"Hotta Akitsu"},{"name":"Baba Osamu"},{"name":"Kuwabara Yasuhide"},{"name":"Nishino Tomohiro"},{"name":"Nakao Tetsushi"},{"name":"Nishiga Masataka"},{"name":"Nishi Hitoo"},{"name":"Nakashima Yasuhiro"},{"name":"Ide Yuya"},{"name":"Koyama Satoshi"},{"name":"Kimura Masahiro"},{"name":"Tsuji Shuhei"},{"name":"Naitoh Motoko"},{"name":"Suzuki Shigehiko"},{"name":"和泉 唯信"},{"name":"瓦井 俊孝"},{"name":"梶 龍兒"},{"name":"Kimura Takeshi"},{"name":"Inoue Haruhisa"},{"name":"Ono Koh"}]},"description":{"en":"Recent reports, including ours, have indicated that microRNA (miR)-33 located within the intron of sterol regulatory element binding protein (SREBP) 2 controls cholesterol homeostasis and can be a potential therapeutic target for the treatment of atherosclerosis. Here, we show that , which encodes a microtubule-severing protein called SPASTIN, was a novel target gene of in human. Actually, the miR-33 binding site in the 3'-UTR is conserved not in mice but in mid to large mammals, and it is impossible to clarify the role of on in mice. We demonstrated that inhibition of , a major form of in human neurons, via locked nucleic acid (LNA)-anti-miR ameliorated the pathological phenotype in hereditary spastic paraplegia (HSP)-SPG4 patient induced pluripotent stem cell (iPSC)-derived cortical neurons. Thus, miR-33a can be a potential therapeutic target for the treatment of HSP-SPG4.","ja":"Recent reports, including ours, have indicated that microRNA (miR)-33 located within the intron of sterol regulatory element binding protein (SREBP) 2 controls cholesterol homeostasis and can be a potential therapeutic target for the treatment of atherosclerosis. Here, we show that , which encodes a microtubule-severing protein called SPASTIN, was a novel target gene of in human. Actually, the miR-33 binding site in the 3'-UTR is conserved not in mice but in mid to large mammals, and it is impossible to clarify the role of on in mice. We demonstrated that inhibition of , a major form of in human neurons, via locked nucleic acid (LNA)-anti-miR ameliorated the pathological phenotype in hereditary spastic paraplegia (HSP)-SPG4 patient induced pluripotent stem cell (iPSC)-derived cortical neurons. Thus, miR-33a can be a potential therapeutic target for the treatment of HSP-SPG4."},"publication_date":"2019-02-22","publication_name":{"en":"Clinical Science","ja":"Clinical Science"},"volume":"Vol.133","number":"No.4","starting_page":"583","ending_page":"595","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1042/CS20180980"],"issn":["1470-8736"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://cir.nii.ac.jp/crid/1390001288147947776/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=373166","label":"url"}],"paper_title":{"en":"Simultaneous approach to tandem occlusion in acute ischemic stroke patients: Percutaneous Transluminal Angioplasty (PTA) using push wire of stent retriever","ja":"Simultaneous approach to tandem occlusion in acute ischemic stroke patients: Percutaneous Transluminal Angioplasty (PTA) using push wire of stent retriever"},"authors":{"en":[{"name":"Yamamoto Nobuaki"},{"name":"Yamamoto Yuki"},{"name":"Korai Masaaki"},{"name":"Shimada Kenji"},{"name":"Kanematsu Yasuhisa"},{"name":"Izumi Yuishin"},{"name":"Satomi Junichiro"},{"name":"Takagi Yasushi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"山本 伸昭"},{"name":"山本 雄貴"},{"name":"高麗 雅章"},{"name":"島田 健司"},{"name":"兼松 康久"},{"name":"和泉 唯信"},{"name":"里見 淳一郎"},{"name":"髙木 康志"},{"name":"梶 龍兒"}]},"publication_date":"2019","publication_name":{"en":"Journal of Neuroendovascular Therapy","ja":"Journal of Neuroendovascular Therapy"},"volume":"Vol.13","number":"No.6","starting_page":"257","ending_page":"261","languages":["eng"],"referee":true,"identifiers":{"doi":["10.5797/jnet.cr.2018-0108"],"issn":["1882-4072"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/113068","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/30511354","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=370524","label":"url"}],"paper_title":{"en":"Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy","ja":"Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy"},"authors":{"en":[{"name":"Matsubara T"},{"name":"Oda M"},{"name":"Takahashi T"},{"name":"Watanabe C"},{"name":"Tachiyama Y"},{"name":"Morino H"},{"name":"Kawakami H"},{"name":"Kaji Ryuji"},{"name":"Maruyama H"},{"name":"Murayama S"},{"name":"Izumi Yuishin"}],"ja":[{"name":"Matsubara T"},{"name":"Oda M"},{"name":"Takahashi T"},{"name":"Watanabe C"},{"name":"Tachiyama Y"},{"name":"Morino H"},{"name":"Kawakami H"},{"name":"梶 龍兒"},{"name":"Maruyama H"},{"name":"Murayama S"},{"name":"和泉 唯信"}]},"description":{"en":"Amyotrophic lateral sclerosis (ALS) primarily affects upper and lower motor neurons. Phosphorylated trans-activation response DNA-binding protein of 43 kDa (TDP-43) inclusion bodies are reportedly a pathological hallmark of sporadic ALS. Here, we present an atypical case of sporadic ALS that progressed very slowly, persisted for 19 years, and clinically appeared to only affect the lower motor neurons; however, upper motor neuron degeneration was detected at autopsy. Furthermore, no inclusion bodies positive for phosphorylated TDP-43, ubiquitin, fused in sarcoma, or superoxide dismutase-1 were detected in the central nervous system. We performed exome-sequencing data analysis but found no genetic disorders. This was therefore an unusual case of lower motor neuron-predominant ALS without TDP-43 pathology or known gene-disease associations. We also reviewed autopsied ALS cases that progressed slowly and had no phosphorylated TDP-43 or ubiquitin-positive inclusions and present the clinicopathological features of such cases. Based on these results, there may be a sporadic ALS subgroup that progresses slowly and shows no accumulation of phosphorylated TDP-43.","ja":"Amyotrophic lateral sclerosis (ALS) primarily affects upper and lower motor neurons. Phosphorylated trans-activation response DNA-binding protein of 43 kDa (TDP-43) inclusion bodies are reportedly a pathological hallmark of sporadic ALS. Here, we present an atypical case of sporadic ALS that progressed very slowly, persisted for 19 years, and clinically appeared to only affect the lower motor neurons; however, upper motor neuron degeneration was detected at autopsy. Furthermore, no inclusion bodies positive for phosphorylated TDP-43, ubiquitin, fused in sarcoma, or superoxide dismutase-1 were detected in the central nervous system. We performed exome-sequencing data analysis but found no genetic disorders. This was therefore an unusual case of lower motor neuron-predominant ALS without TDP-43 pathology or known gene-disease associations. We also reviewed autopsied ALS cases that progressed slowly and had no phosphorylated TDP-43 or ubiquitin-positive inclusions and present the clinicopathological features of such cases. Based on these results, there may be a sporadic ALS subgroup that progresses slowly and shows no accumulation of phosphorylated TDP-43."},"publication_date":"2019","publication_name":{"en":"Neuropathology","ja":"Neuropathology"},"volume":"Vol.39","number":"No.1","starting_page":"47","ending_page":"53","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1111/neup.12523"],"issn":["1440-1789"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/114035","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/31656281","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85074149880&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=366255","label":"url"}],"paper_title":{"en":"Texture analysis of sonographic muscle images can distinguish myopathic conditions.","ja":"Texture analysis of sonographic muscle images can distinguish myopathic conditions."},"authors":{"en":[{"name":"Nodera Hiroyuki"},{"name":"Sogawa Kazuki"},{"name":"Takamatsu Naoko"},{"name":"Hashiguchi Shuji"},{"name":"Saito Miho"},{"name":"Mori Atsuko"},{"name":"Osaki Yusuke"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"野寺 裕之"},{"name":"Sogawa Kazuki"},{"name":"高松 直子"},{"name":"Hashiguchi Shuji"},{"name":"Saito Miho"},{"name":"Mori Atsuko"},{"name":"Osaki Yusuke"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"Given the recent technological advent of muscle ultrasound (US), classification of various myopathic conditions could be possible, especially by mathematical analysis of muscular fine structure called texture analysis. We prospectively enrolled patients with three neuromuscular conditions and their lower leg US images were quantitatively analyzed by texture analysis and machine learning methodology in the following subjects : Inclusion body myositis (IBM) [N=11] ; myotonic dystrophy type 1 (DM1) [N=19] ; polymyositis/dermatomyositis (PM-DM) [N=21]. Although three-group analysis achieved up to 58.8% accuracy, two-group analysis of IBM plus PM-DM versus DM1 showed 78.4% accuracy. Despite the small number of subjects, texture analysis of muscle US followed by machine learning might be expected to be useful in identifying myopathic conditions. J. Med. Invest. 66 : 237-240, August, 2019.","ja":"Given the recent technological advent of muscle ultrasound (US), classification of various myopathic conditions could be possible, especially by mathematical analysis of muscular fine structure called texture analysis. We prospectively enrolled patients with three neuromuscular conditions and their lower leg US images were quantitatively analyzed by texture analysis and machine learning methodology in the following subjects : Inclusion body myositis (IBM) [N=11] ; myotonic dystrophy type 1 (DM1) [N=19] ; polymyositis/dermatomyositis (PM-DM) [N=21]. Although three-group analysis achieved up to 58.8% accuracy, two-group analysis of IBM plus PM-DM versus DM1 showed 78.4% accuracy. Despite the small number of subjects, texture analysis of muscle US followed by machine learning might be expected to be useful in identifying myopathic conditions. J. Med. Invest. 66 : 237-240, August, 2019."},"publication_date":"2019","publication_name":{"en":"The Journal of Medical Investigation : JMI","ja":"The Journal of Medical Investigation : JMI"},"volume":"Vol.66","number":"No.3,4","starting_page":"237","ending_page":"247","languages":["eng"],"referee":true,"identifiers":{"doi":["10.2152/jmi.66.237"],"issn":["1349-6867"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/30353953","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85058702574&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=366245","label":"url"}],"paper_title":{"en":"Classification of needle-EMG resting potentials by machine learning","ja":"Classification of needle-EMG resting potentials by machine learning"},"authors":{"en":[{"name":"Nodera Hiroyuki"},{"name":"Osaki Y"},{"name":"Yamazaki Hiroki"},{"name":"Mori A"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"野寺 裕之"},{"name":"Osaki Y"},{"name":"山﨑 博輝"},{"name":"Mori A"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"The diagnostic importance of audio signal characteristics in needle electromyography (EMG) is well established. Given the recent advent of audio-sound identification by artificial intelligence, we hypothesized that the extraction of characteristic resting EMG signals and application of machine learning algorithms could help classify various EMG discharges. Data files of 6 classes of resting EMG signals were divided into 2-s segments. Extraction of characteristic features (384 and 4,367 features each) was used to classify the 6 types of discharges using machine learning algorithms. Across 841 audio files, the best overall accuracy of 90.4% was observed for the smaller feature set. Among the feature classes, mel-frequency cepstral coefficients (MFCC)-related features were useful in correct classification. We showed that needle EMG resting signals were satisfactorily classifiable by the combination of feature extraction and machine learning, and this can be applied to clinical settings. Muscle Nerve 59:224-228, 2019.","ja":"The diagnostic importance of audio signal characteristics in needle electromyography (EMG) is well established. Given the recent advent of audio-sound identification by artificial intelligence, we hypothesized that the extraction of characteristic resting EMG signals and application of machine learning algorithms could help classify various EMG discharges. Data files of 6 classes of resting EMG signals were divided into 2-s segments. Extraction of characteristic features (384 and 4,367 features each) was used to classify the 6 types of discharges using machine learning algorithms. Across 841 audio files, the best overall accuracy of 90.4% was observed for the smaller feature set. Among the feature classes, mel-frequency cepstral coefficients (MFCC)-related features were useful in correct classification. We showed that needle EMG resting signals were satisfactorily classifiable by the combination of feature extraction and machine learning, and this can be applied to clinical settings. Muscle Nerve 59:224-228, 2019."},"publication_date":"2019","publication_name":{"en":"Muscle & Nerve","ja":"Muscle & Nerve"},"volume":"Vol.59","number":"No.2","starting_page":"224","ending_page":"229","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1002/mus.26363"],"issn":["1097-4598"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/113228","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/30619056","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=350356","label":"url"}],"paper_title":{"en":"Distinct Incidence of Takotsubo Syndrome Between Amyotrophic Lateral Sclerosis and Synucleinopathies: A Cohort Study.","ja":"Distinct Incidence of Takotsubo Syndrome Between Amyotrophic Lateral Sclerosis and Synucleinopathies: A Cohort Study."},"authors":{"en":[{"name":"Izumi Yuishin"},{"name":"Miyamoto Ryosuke"},{"name":"Fujita Koji"},{"name":"Yamamoto Yuki"},{"name":"Yamada Hirotsugu"},{"name":"Matsubara Tomoyasu"},{"name":"Unai Yuki"},{"name":"Tsukamoto Ai"},{"name":"Takamatsu Naoko"},{"name":"Nodera Hiroyuki"},{"name":"Hayashi Shinya"},{"name":"Oda Masaya"},{"name":"Mori Atsuko"},{"name":"Nishida Yoshihiko"},{"name":"Watanabe Shunsuke"},{"name":"Ogawa Hirohisa"},{"name":"Uehara Hisanori"},{"name":"Murayama Shigeo"},{"name":"Sata Masataka"},{"name":"Kaji Ryuji"}],"ja":[{"name":"和泉 唯信"},{"name":"宮本 亮介"},{"name":"藤田 浩司"},{"name":"Yamamoto Yuki"},{"name":"山田 博胤"},{"name":"Matsubara Tomoyasu"},{"name":"Unai Yuki"},{"name":"Tsukamoto Ai"},{"name":"Takamatsu Naoko"},{"name":"野寺 裕之"},{"name":"Hayashi Shinya"},{"name":"Oda Masaya"},{"name":"Mori Atsuko"},{"name":"Nishida Yoshihiko"},{"name":"Watanabe Shunsuke"},{"name":"小川 博久"},{"name":"上原 久典"},{"name":"Murayama Shigeo"},{"name":"佐田 政隆"},{"name":"梶 龍兒"}]},"description":{"en":"Takotsubo syndrome (TTS) is an acute cardiac syndrome characterized by regional left ventricular dysfunction with a peculiar circumferential pattern, which typically results in apical ballooning. Evidence indicates a pivotal role of catecholamines in TTS, and researchers have discussed multiple hypotheses on the etiology, including multivessel coronary spasm, myocardial stunning, excessive transient ventricular afterload, and cardiac sympathetic overactivity with local noradrenaline spillover. Although central nervous system disorders, such as stroke and epilepsy, are known to trigger TTS, the incidence and clinical features of TTS in neurodegenerative disorders are poorly understood. Here, we retrospectively examined TTS cases in a single-center cohort composed of 250 patients with amyotrophic lateral sclerosis (ALS) and 870 patients with synucleinopathies [582 patients with Parkinson's disease (PD), 125 patients with dementia with Lewy bodies (DLB), and 163 patients with multiple system atrophy (MSA)] and identified 4 (1.6%, including 2 women) cases with ALS and no cases with synucleinopathies. Two ALS patients underwent autopsy and the pathological findings were compatible with the chronological changes identified in catecholamine-induced cardiomyopathy. A literature review identified 16 TTS cases with ALS, 1 case each with PD and DLB, and no cases with MSA. When current and previous TTS cases with ALS were concatenated: 55% (11/20) were female; 35% (7/20) had a bulbar-onset and 45% (9/20) had a limb-onset; the mean age of TTS onset was 63.3 ± 9.0 years and the mean interval time from ALS onset to TTS development was 4.9 ± 3.0 years; no (0/16) patients developed TTS within 12 months after ALS onset; 50% (10/20) underwent artificial ventilations; the mortality was 17% (3/18); and most cases had precipitating factors, and TTS development was associated with gastrostomy, tracheostomy, or infections in 45% (9/20) of the patients. This study demonstrated that ALS is a considerable predisposing factor of TTS and that synucleinopathies rarely cause TTS. The distinct TTS incidence between ALS and synucleinopathies may be due to cardiac sympathetic overactivity in ALS and may also be affected by cardiac sympathetic denervation in synucleinopathies. Moreover, the etiology of TTS in ALS may be reasonably explained by the two-hit theory.","ja":"Takotsubo syndrome (TTS) is an acute cardiac syndrome characterized by regional left ventricular dysfunction with a peculiar circumferential pattern, which typically results in apical ballooning. Evidence indicates a pivotal role of catecholamines in TTS, and researchers have discussed multiple hypotheses on the etiology, including multivessel coronary spasm, myocardial stunning, excessive transient ventricular afterload, and cardiac sympathetic overactivity with local noradrenaline spillover. Although central nervous system disorders, such as stroke and epilepsy, are known to trigger TTS, the incidence and clinical features of TTS in neurodegenerative disorders are poorly understood. Here, we retrospectively examined TTS cases in a single-center cohort composed of 250 patients with amyotrophic lateral sclerosis (ALS) and 870 patients with synucleinopathies [582 patients with Parkinson's disease (PD), 125 patients with dementia with Lewy bodies (DLB), and 163 patients with multiple system atrophy (MSA)] and identified 4 (1.6%, including 2 women) cases with ALS and no cases with synucleinopathies. Two ALS patients underwent autopsy and the pathological findings were compatible with the chronological changes identified in catecholamine-induced cardiomyopathy. A literature review identified 16 TTS cases with ALS, 1 case each with PD and DLB, and no cases with MSA. When current and previous TTS cases with ALS were concatenated: 55% (11/20) were female; 35% (7/20) had a bulbar-onset and 45% (9/20) had a limb-onset; the mean age of TTS onset was 63.3 ± 9.0 years and the mean interval time from ALS onset to TTS development was 4.9 ± 3.0 years; no (0/16) patients developed TTS within 12 months after ALS onset; 50% (10/20) underwent artificial ventilations; the mortality was 17% (3/18); and most cases had precipitating factors, and TTS development was associated with gastrostomy, tracheostomy, or infections in 45% (9/20) of the patients. This study demonstrated that ALS is a considerable predisposing factor of TTS and that synucleinopathies rarely cause TTS. The distinct TTS incidence between ALS and synucleinopathies may be due to cardiac sympathetic overactivity in ALS and may also be affected by cardiac sympathetic denervation in synucleinopathies. Moreover, the etiology of TTS in ALS may be reasonably explained by the two-hit theory."},"publication_date":"2018-12-13","publication_name":{"en":"Frontiers in Neurology","ja":"Frontiers in Neurology"},"volume":"Vol.9","starting_page":"1099","ending_page":"1099","languages":["eng"],"referee":true,"identifiers":{"doi":["10.3389/fneur.2018.01099"],"issn":["1664-2295"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"http://search.jamas.or.jp/link/ui/T117590352","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=357078","label":"url"}],"paper_title":{"en":"123I-MIBG心筋シンチグラフィーとパーキンソン病患者における転倒リスクの評価","ja":"123I-MIBG心筋シンチグラフィーとパーキンソン病患者における転倒リスクの評価"},"authors":{"en":[{"name":"村上 永尚"},{"name":"Sako Wataru"},{"name":"土師 正太郎"},{"name":"Furukawa Takahiro"},{"name":"Uyama Naoto"},{"name":"Otomi Youichi"},{"name":"Izumi Yuishin"},{"name":"Harada Masafumi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"村上 永尚"},{"name":"佐光 亘"},{"name":"土師 正太郎"},{"name":"古川 貴大"},{"name":"宇山 直人"},{"name":"音見 暢一"},{"name":"和泉 唯信"},{"name":"原田 雅史"},{"name":"梶 龍兒"}]},"publication_date":"2018-12","publication_name":{"en":"Clinical Neurology","ja":"臨床神経学"},"volume":"Vol.58","number":"No.Suppl.","starting_page":"S213","ending_page":"S213","languages":["jpn"],"referee":true,"identifiers":{"issn":["0009-918X"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/114301","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/30466222","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85055838752&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=353163","label":"url"}],"paper_title":{"en":"Turning on the Left Side Electrode Changed Depressive State to Manic State in a Parkinson's Disease Patient Who Received Bilateral Subthalamic Nucleus Deep Brain Stimulation: A Case Report.","ja":"Turning on the Left Side Electrode Changed Depressive State to Manic State in a Parkinson's Disease Patient Who Received Bilateral Subthalamic Nucleus Deep Brain Stimulation: A Case Report."},"authors":{"en":[{"name":"Kinoshita Makoto"},{"name":"Nakataki Masahito"},{"name":"Morigaki Ryoma"},{"name":"Sumitani Satsuki"},{"name":"Goto Satoshi"},{"name":"Kaji Ryuji"},{"name":"Ohmori Tetsuro"}],"ja":[{"name":"木下 誠"},{"name":"中瀧 理仁"},{"name":"森垣 龍馬"},{"name":"住谷 さつき"},{"name":"後藤 惠"},{"name":"梶 龍兒"},{"name":"大森 哲郎"}]},"description":{"en":"No previous reports have described a case in which deep brain stimulation elicited an acute mood swing from a depressive to manic state simply by switching one side of the bilateral deep brain stimulation electrode on and off. The patient was a 68-year-old woman with a 10-year history of Parkinson's disease. She underwent bilateral subthalamic deep brain stimulation surgery. After undergoing surgery, the patient exhibited hyperthymia. She was scheduled for admission. On the first day of admission, it was clear that resting tremors in the right limbs had relapsed and her hyperthymia had reverted to depression. It was discovered that the left-side electrode of the deep brain stimulation device was found to be accidentally turned off. As soon as the electrode was turned on, motor impairment improved and her mood switched from depression to mania. The authors speculate that the lateral balance of stimulation plays an important role in mood regulation. The current report provides an intriguing insight into possible mechanisms of mood swing in mood disorders.","ja":"No previous reports have described a case in which deep brain stimulation elicited an acute mood swing from a depressive to manic state simply by switching one side of the bilateral deep brain stimulation electrode on and off. The patient was a 68-year-old woman with a 10-year history of Parkinson's disease. She underwent bilateral subthalamic deep brain stimulation surgery. After undergoing surgery, the patient exhibited hyperthymia. She was scheduled for admission. On the first day of admission, it was clear that resting tremors in the right limbs had relapsed and her hyperthymia had reverted to depression. It was discovered that the left-side electrode of the deep brain stimulation device was found to be accidentally turned off. As soon as the electrode was turned on, motor impairment improved and her mood switched from depression to mania. The authors speculate that the lateral balance of stimulation plays an important role in mood regulation. The current report provides an intriguing insight into possible mechanisms of mood swing in mood disorders."},"publication_date":"2018-11-30","publication_name":{"en":"Clinical Psychopharmacology and Neuroscience","ja":"Clinical Psychopharmacology and Neuroscience"},"volume":"Vol.16","number":"No.4","starting_page":"494","ending_page":"496","languages":["eng"],"referee":true,"identifiers":{"doi":["10.9758/cpn.2018.16.4.494"],"issn":["1738-1088"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/30311446","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=359250","label":"url"}],"paper_title":{"en":"Compound heterozygote mutations in the SIGMAR1 gene in an oldest-old patient with amyotrophic lateral sclerosis.","ja":"Compound heterozygote mutations in the SIGMAR1 gene in an oldest-old patient with amyotrophic lateral sclerosis."},"authors":{"en":[{"name":"Izumi Yuishin"},{"name":"Morino Hiroyuki"},{"name":"Miyamoto Ryosuke"},{"name":"Matsuda Yukiko"},{"name":"Ohsawa Ryosuke"},{"name":"Kurashige Takashi"},{"name":"Shimatani Yoshimitsu"},{"name":"Kaji Ryuji"},{"name":"Kawakami Hideshi"}],"ja":[{"name":"和泉 唯信"},{"name":"Morino Hiroyuki"},{"name":"宮本 亮介"},{"name":"Matsuda Yukiko"},{"name":"Ohsawa Ryosuke"},{"name":"Kurashige Takashi"},{"name":"島谷 佳光"},{"name":"梶 龍兒"},{"name":"Kawakami Hideshi"}]},"publication_date":"2018-10","publication_name":{"en":"Geriatrics & Gerontology International","ja":"Geriatrics & Gerontology International"},"volume":"Vol.18","number":"No.10","starting_page":"1519","ending_page":"1520","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1111/ggi.13506"],"issn":["1447-0594"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/30016754","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=380959","label":"url"}],"paper_title":{"en":"CSF cystatin C and diffusion tensor imaging parameters as biomarkers of upper motor neuron degeneration in amyotrophic lateral sclerosis.","ja":"CSF cystatin C and diffusion tensor imaging parameters as biomarkers of upper motor neuron degeneration in amyotrophic lateral sclerosis."},"authors":{"en":[{"name":"Nakane Shunya"},{"name":"Fujita Koji"},{"name":"Azuma Shingo"},{"name":"Urushihara Ryo"},{"name":"Kamada Masaki"},{"name":"Harada Masafumi"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"中根 俊成"},{"name":"藤田 浩司"},{"name":"Azuma Shingo"},{"name":"Urushihara Ryo"},{"name":"鎌田 正紀"},{"name":"原田 雅史"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"Reduced cystatin C in CSF can reflect UMN involvement as shown in high-field MR of ALS, potentially providing a new biomarker for UMN degeneration in ALS.","ja":"MR findings indicated that decreased anisotropy, increased diffusion, and increased myo-inositol/creatine ratio were also significantly correlated with UMN involvement in patients with ALS. The CSF cystatin C levels were significantly lower in patients with ALS than in the other three groups. The reduction of CSF cystatin C levels was significantly correlated with clinical UMN involvement (r = -0.505, p = 0.023)."},"publication_date":"2018-07-10","publication_name":{"en":"Clinical Neurology and Neurosurgery","ja":"Clinical Neurology and Neurosurgery"},"volume":"Vol.172","starting_page":"162","ending_page":"168","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.clineuro.2018.07.008"],"issn":["1872-6968"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/29337417","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85042582939&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=339859","label":"url"}],"paper_title":{"en":"Guillan-Barre syndrome in local area in Japan, 2006-2015: an epidemiological and clinical study of 108 patients","ja":"Guillan-Barre syndrome in local area in Japan, 2006-2015: an epidemiological and clinical study of 108 patients"},"authors":{"en":[{"name":"Matsui Naoko"},{"name":"Nodera Hiroyuki"},{"name":"Kuzume D"},{"name":"Iwasa N"},{"name":"Unai Y"},{"name":"Sakai W"},{"name":"Miyazaki Y"},{"name":"Yamazaki H"},{"name":"Osaki Yusuke"},{"name":"Mori A"},{"name":"Furukawa T"},{"name":"Tsukamoto-Miyashiro A"},{"name":"Shimatani Y"},{"name":"Yamasaki M"},{"name":"Izumi Yuishin"},{"name":"Kusunoki S"},{"name":"Arisawa Kokichi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"松井 尚子"},{"name":"野寺 裕之"},{"name":"Kuzume D"},{"name":"Iwasa N"},{"name":"Unai Y"},{"name":"Sakai W"},{"name":"Miyazaki Y"},{"name":"Yamazaki H"},{"name":"大崎 裕亮"},{"name":"Mori A"},{"name":"Furukawa T"},{"name":"Tsukamoto-Miyashiro A"},{"name":"Shimatani Y"},{"name":"Yamasaki M"},{"name":"和泉 唯信"},{"name":"Kusunoki S"},{"name":"有澤 孝吉"},{"name":"梶 龍兒"}]},"description":{"en":"Many epidemiological studies of Guillain-Barré syndrome (GBS) and Fisher syndrome (FS) have been conducted in Europe and America. In contrast, epidemiological studies are rare in Asia where the GBS subtypes differ from those in Western countries. This study was undertaken to clarify the incidence of GBS and FS in a local area in Japan as well as their seasonal trends. Seventy-one GBS and 37 FS patients were recorded from 2006 to 2015 in an area of approximately 1.5 million inhabitants in Japan. The incidence, seasonal trends and clinical features of GBS and FS were examined. The incidence rate of GBS was 0.42 cases per 100 000 person-years and that of FS was 0.22 cases per 100 000 person-years. The incidence of GBS increased with age and FS affected predominantly patients aged from 45 to 64 years old. There was some seasonal clustering of acute motor axonal neuropathy (AMAN) and FS in spring and summer, but it was not significant. AMAN and FS patients had a high frequency of preceding infection (AMAN, 68% gastrointestinal infection; FS, 65% upper respiratory infection). Antecedent respiratory infection was significantly associated with FS as an outcome. Serum antibodies to ganglioside GM1 were detected in 71% of AMAN patients and antibodies to GQ1b were detected in 81% of FS patients. Our study offers evidence of a lower incidence of GBS and a higher incidence of FS in a local area in Japan than in Western countries.","ja":"Many epidemiological studies of Guillain-Barré syndrome (GBS) and Fisher syndrome (FS) have been conducted in Europe and America. In contrast, epidemiological studies are rare in Asia where the GBS subtypes differ from those in Western countries. This study was undertaken to clarify the incidence of GBS and FS in a local area in Japan as well as their seasonal trends. Seventy-one GBS and 37 FS patients were recorded from 2006 to 2015 in an area of approximately 1.5 million inhabitants in Japan. The incidence, seasonal trends and clinical features of GBS and FS were examined. The incidence rate of GBS was 0.42 cases per 100 000 person-years and that of FS was 0.22 cases per 100 000 person-years. The incidence of GBS increased with age and FS affected predominantly patients aged from 45 to 64 years old. There was some seasonal clustering of acute motor axonal neuropathy (AMAN) and FS in spring and summer, but it was not significant. AMAN and FS patients had a high frequency of preceding infection (AMAN, 68% gastrointestinal infection; FS, 65% upper respiratory infection). Antecedent respiratory infection was significantly associated with FS as an outcome. Serum antibodies to ganglioside GM1 were detected in 71% of AMAN patients and antibodies to GQ1b were detected in 81% of FS patients. Our study offers evidence of a lower incidence of GBS and a higher incidence of FS in a local area in Japan than in Western countries."},"publication_date":"2018-05-25","publication_name":{"en":"European Journal of Neurology","ja":"European Journal of Neurology"},"volume":"Vol.25","number":"No.5","starting_page":"718","ending_page":"724","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1111/ene.13569"],"issn":["1468-1331"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/29888029","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=354179","label":"url"}],"paper_title":{"en":"Dural arteriovenous fistula in the superior orbital fissure","ja":"Dural arteriovenous fistula in the superior orbital fissure"},"authors":{"en":[{"name":"Yamamoto Yuki"},{"name":"Yamamoto Nobuaki"},{"name":"Satomi Junichiro"},{"name":"Yamaguchi Idumi"},{"name":"Korai Masaaki"},{"name":"Kanematsu Yasuhisa"},{"name":"Takagi Yasushi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"山本 雄貴"},{"name":"山本 伸昭"},{"name":"里見 淳一郎"},{"name":"山口 泉"},{"name":"高麗 雅章"},{"name":"兼松 康久"},{"name":"髙木 康志"},{"name":"梶 龍兒"}]},"description":{"en":"Dural arteriovenous fistulas (dAVFs) are extremely rare in the superior orbital fissure, and they exhibit ocular symptoms similar to the dAVF in the cavernous sinus because of the intraorbital venous congestion. Hence, the distinction of these conditions is imperative because of some inherent differences in endovascular treatment techniques. A 58-year-old woman presented with a gradually worsening left eyeball protrusion and conjunctival congestion. The digital subtraction angiography revealed a dAVF with a shunting point in the left superior orbital fissure. Moreover, the inferolateral trunk of the left internal carotid artery and the left middle meningeal artery were involved as feeding arteries. Shunting blood flow drained into the facial vein through the superior ophthalmic vein (SOV) but not into the cavernous sinus, which was located just posterior to the superior orbital fissure. We performed transvenous coil embolization in the SOV through the facial vein, and the symptoms disappeared completely. We experienced a case of a dAVF in the superior orbital fissure. This case presented a possibility of the presence of one subtype of the dAVF in the part of the cavernous sinus separated at the superior orbital fissure in front. Transvenous coil embolization in the SOV through the facial vein efficiently occluded the fistula.","ja":"Dural arteriovenous fistulas (dAVFs) are extremely rare in the superior orbital fissure, and they exhibit ocular symptoms similar to the dAVF in the cavernous sinus because of the intraorbital venous congestion. Hence, the distinction of these conditions is imperative because of some inherent differences in endovascular treatment techniques. A 58-year-old woman presented with a gradually worsening left eyeball protrusion and conjunctival congestion. The digital subtraction angiography revealed a dAVF with a shunting point in the left superior orbital fissure. Moreover, the inferolateral trunk of the left internal carotid artery and the left middle meningeal artery were involved as feeding arteries. Shunting blood flow drained into the facial vein through the superior ophthalmic vein (SOV) but not into the cavernous sinus, which was located just posterior to the superior orbital fissure. We performed transvenous coil embolization in the SOV through the facial vein, and the symptoms disappeared completely. We experienced a case of a dAVF in the superior orbital fissure. This case presented a possibility of the presence of one subtype of the dAVF in the part of the cavernous sinus separated at the superior orbital fissure in front. Transvenous coil embolization in the SOV through the facial vein efficiently occluded the fistula."},"publication_date":"2018-05-07","publication_name":{"en":"Surgical Neurology International","ja":"Surgical Neurology International"},"volume":"Vol.9","number":"No.1","starting_page":"95","ending_page":"95","languages":["eng"],"referee":true,"identifiers":{"doi":["10.4103/sni.sni_46_18"],"issn":["2229-5097"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=363872","label":"url"}],"paper_title":{"en":"未治療のサルコイドーシスに合併した進行性多巣性白質脳症","ja":"未治療のサルコイドーシスに合併した進行性多巣性白質脳症"},"authors":{"en":[{"name":"山上 圭"},{"name":"Furukawa Takahiro"},{"name":"Osaki Yusuke"},{"name":"村上 永尚"},{"name":"中道 一生"},{"name":"西條 政幸"},{"name":"Matsui Naoko"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"山上 圭"},{"name":"古川 貴大"},{"name":"大崎 裕亮"},{"name":"村上 永尚"},{"name":"中道 一生"},{"name":"西條 政幸"},{"name":"松井 尚子"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"publication_date":"2018-04-30","publication_name":{"en":"Neuroinfection","ja":"神経感染症"},"volume":"Vol.23","number":"No.1","starting_page":"151","ending_page":"156","languages":["jpn"],"referee":true,"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/29653907","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=338008","label":"url"}],"paper_title":{"en":"Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.","ja":"Phenotype variability and allelic heterogeneity in KMT2B-Associated disease."},"authors":{"en":[{"name":"Kawarai Toshitaka"},{"name":"Miyamoto Ryosuke"},{"name":"Nakagawa Eiji"},{"name":"Koichihara Reiko"},{"name":"Sakamoto Takashi"},{"name":"Mure Hideo"},{"name":"Morigaki Ryoma"},{"name":"Koizumi Hidetaka"},{"name":"Oki Ryosuke"},{"name":"Montecchiani Celeste"},{"name":"Caltagirone Carlo"},{"name":"Orlacchio Antonio"},{"name":"Hattori Ayako"},{"name":"Mashimo Hideaki"},{"name":"Izumi Yuishin"},{"name":"Mezaki Takahiro"},{"name":"Kumada Satoko"},{"name":"Taniguchi Makoto"},{"name":"Yokochi Fusako"},{"name":"Saitoh Shinji"},{"name":"Goto Satoshi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"瓦井 俊孝"},{"name":"宮本 亮介"},{"name":"Nakagawa Eiji"},{"name":"Koichihara Reiko"},{"name":"坂本 崇"},{"name":"牟礼 英生"},{"name":"森垣 龍馬"},{"name":"Koizumi Hidetaka"},{"name":"沖 良祐"},{"name":"Montecchiani Celeste"},{"name":"Caltagirone Carlo"},{"name":"Orlacchio Antonio"},{"name":"Hattori Ayako"},{"name":"Mashimo Hideaki"},{"name":"和泉 唯信"},{"name":"Mezaki Takahiro"},{"name":"Kumada Satoko"},{"name":"Taniguchi Makoto"},{"name":"Yokochi Fusako"},{"name":"Saitoh Shinji"},{"name":"後藤 惠"},{"name":"梶 龍兒"}]},"description":{"en":"We further demonstrate the allelic heterogeneity and phenotypic variations of KMT2B-associated disease. Haploinsufficiency is one of molecular pathomechanisms underlying the disease. Cardinal clinical features include combined dystonia accompanying mild psychomotor disability. Cerebellum would be affected in KMT2B-associated disease.","ja":"We further demonstrate the allelic heterogeneity and phenotypic variations of KMT2B-associated disease. Haploinsufficiency is one of molecular pathomechanisms underlying the disease. Cardinal clinical features include combined dystonia accompanying mild psychomotor disability. Cerebellum would be affected in KMT2B-associated disease."},"publication_date":"2018-04-05","publication_name":{"en":"Parkinsonism & Related Disorders","ja":"Parkinsonism & Related Disorders"},"languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.parkreldis.2018.03.022"],"issn":["1873-5126"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://ci.nii.ac.jp/naid/40021806130/","label":"url"},{"@id":"https://cir.nii.ac.jp/crid/1520572358412476800/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=349015","label":"url"}],"paper_title":{"en":"Multi-disciplinary approach for dystonia patients by treatment with deep brain stimulation","ja":"ジストニアDBS治療における多職種連携"},"authors":{"en":[{"name":"Mure Hideo"},{"name":"Morigaki Ryoma"},{"name":"Miyamoto Ryosuke"},{"name":"Nakataki Masahito"},{"name":"岡久 哲也"},{"name":"Katoh Shinsuke"},{"name":"Kaji Ryuji"},{"name":"Takagi Yasushi"},{"name":"Nagahiro Shinji"},{"name":"Goto Satoshi"}],"ja":[{"name":"牟礼 英生"},{"name":"森垣 龍馬"},{"name":"宮本 亮介"},{"name":"中瀧 理仁"},{"name":"岡久 哲也"},{"name":"加藤 真介"},{"name":"梶 龍兒"},{"name":"髙木 康志"},{"name":"永廣 信治"},{"name":"後藤 惠"}]},"publication_date":"2018","publication_name":{"en":"Functional Neurosurgery","ja":"機能的脳神経外科"},"volume":"Vol.57","starting_page":"35","ending_page":"39","languages":["jpn"],"referee":true,"identifiers":{"issn":["1344-9699"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/29126763","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85034443966&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=335240","label":"url"}],"paper_title":{"en":"A novel compound heterozygous TH mutation in a Japanese case of dopa-responsive dystonia with mild clinical course.","ja":"A novel compound heterozygous TH mutation in a Japanese case of dopa-responsive dystonia with mild clinical course."},"authors":{"en":[{"name":"Kuwabara Kozue"},{"name":"Kawarai Toshitaka"},{"name":"Ishida Yasushi"},{"name":"Miyamoto Ryosuke"},{"name":"Oki Ryosuke"},{"name":"Orlacchio Antonio"},{"name":"Nomura Yoshiko"},{"name":"Fukuda Mitsumasa"},{"name":"Ishii Eiichi"},{"name":"Shintaku Haruo"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Kuwabara Kozue"},{"name":"瓦井 俊孝"},{"name":"Ishida Yasushi"},{"name":"宮本 亮介"},{"name":"Oki Ryosuke"},{"name":"Orlacchio Antonio"},{"name":"Nomura Yoshiko"},{"name":"Fukuda Mitsumasa"},{"name":"Ishii Eiichi"},{"name":"Shintaku Haruo"},{"name":"梶 龍兒"}]},"publication_date":"2017-10-26","publication_name":{"en":"Parkinsonism & Related Disorders","ja":"Parkinsonism & Related Disorders"},"volume":"Vol.46","starting_page":"87","ending_page":"89","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.parkreldis.2017.10.019"],"issn":["1873-5126"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/29107646","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85032279469&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=335239","label":"url"}],"paper_title":{"en":"Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability.","ja":"Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability."},"authors":{"en":[{"name":"Kamada Masaki"},{"name":"Kawarai Toshitaka"},{"name":"Miyamoto Ryosuke"},{"name":"Kawakita Rie"},{"name":"Tojima Yuki"},{"name":"Montecchiani Celeste"},{"name":"D'Onofrio Laura"},{"name":"Caltagirone Carlo"},{"name":"Orlacchio Antonio"},{"name":"Kaji Ryuji"}],"ja":[{"name":"鎌田 正紀"},{"name":"瓦井 俊孝"},{"name":"宮本 亮介"},{"name":"Kawakita Rie"},{"name":"Tojima Yuki"},{"name":"Montecchiani Celeste"},{"name":"D'Onofrio Laura"},{"name":"Caltagirone Carlo"},{"name":"Orlacchio Antonio"},{"name":"梶 龍兒"}]},"description":{"en":"Mutations in REEP1 have been identified in three types of neurological disorders, autosomal dominant form of Hereditary Spastic Paraplegia type 31 (SPG31), autosomal dominant distal hereditary motor neuronopathy type VB (HMN5B), and autosomal recessive form of congenital axonal neuropathy and diaphragmatic palsy. Previous studies demonstrated different molecular pathogenesis in SPG31, including loss-of-function, gain-of-function and haploinsufficiency. A four-generation family from Japan, including 12 members, was investigated clinically and genetically. Seven affected members displayed pure spastic paraplegia. Impression of genetic anticipation was observed in the family, including tendency of earlier age-at-onset and increasing severity in subsequent generations. Genetic analysis revealed a heterozygous intronic variant, c.303+2T > A, in REEP1, which segregated with disease, and was also identified in one unaffected member. The variant causes exon 4 skipping leading to frame shift and a truncated transcript identified by complementary DNA sequencing of reverse transcription polymerase chain reaction products. Measurement of REEP1 transcripts in lymphocytes demonstrated a reduction through nonsense mediated mRNA decay (NMD). Our study demonstrated further evidence of allelic heterogeneity in SPG31, mutant REEP1 mRNA dosage effects through NMD and intra-familial phenotype variability.","ja":"Mutations in REEP1 have been identified in three types of neurological disorders, autosomal dominant form of Hereditary Spastic Paraplegia type 31 (SPG31), autosomal dominant distal hereditary motor neuronopathy type VB (HMN5B), and autosomal recessive form of congenital axonal neuropathy and diaphragmatic palsy. Previous studies demonstrated different molecular pathogenesis in SPG31, including loss-of-function, gain-of-function and haploinsufficiency. A four-generation family from Japan, including 12 members, was investigated clinically and genetically. Seven affected members displayed pure spastic paraplegia. Impression of genetic anticipation was observed in the family, including tendency of earlier age-at-onset and increasing severity in subsequent generations. Genetic analysis revealed a heterozygous intronic variant, c.303+2T > A, in REEP1, which segregated with disease, and was also identified in one unaffected member. The variant causes exon 4 skipping leading to frame shift and a truncated transcript identified by complementary DNA sequencing of reverse transcription polymerase chain reaction products. Measurement of REEP1 transcripts in lymphocytes demonstrated a reduction through nonsense mediated mRNA decay (NMD). Our study demonstrated further evidence of allelic heterogeneity in SPG31, mutant REEP1 mRNA dosage effects through NMD and intra-familial phenotype variability."},"publication_date":"2017-10-21","publication_name":{"en":"Parkinsonism & Related Disorders","ja":"Parkinsonism & Related Disorders"},"volume":"Vol.46","starting_page":"79","ending_page":"83","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.parkreldis.2017.10.012"],"issn":["1873-5126"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/28476508","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=325928","label":"url"}],"paper_title":{"en":"Risk Factors of Neurological Deterioration in Patients with Cerebral Infarction due to Large Artery Atherosclerosis","ja":"Risk Factors of Neurological Deterioration in Patients with Cerebral Infarction due to Large Artery Atherosclerosis"},"authors":{"en":[{"name":"Yamamoto Nobuaki"},{"name":"Satomi Junichiro"},{"name":"Yamamoto Yuki"},{"name":"Shono Kenji"},{"name":"Kanematsu Yasuhisa"},{"name":"Izumi Yuishin"},{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"}],"ja":[{"name":"山本 伸昭"},{"name":"里見 淳一郎"},{"name":"山本 雄貴"},{"name":"庄野 健児"},{"name":"兼松 康久"},{"name":"和泉 唯信"},{"name":"永廣 信治"},{"name":"梶 龍兒"}]},"description":{"en":"In some patients with acute ischemic stroke, neurological deterioration (ND) is observed, and it is difficult to predict at the time of admission. Especially in some patients with large-artery atherosclerosis (LAA), aggressive medical treatments and surgical interventions might be helpful to prevent ND. Therefore, we investigated factors associated with ND in patients with LAA. We studied patients with LAA who were admitted to our hospital. We divided them into 2 groups with (group 1) and without deterioration (group 2), and evaluated their medical records, risk factors, and radiological findings, such as number of diffusion-positive lesion and degree of stenosis. Our study population consisted of 171 patients; 71 (41.5%) did and 100 (58.5%) did not suffer deterioration. By univariate analysis, blood pressure (BP), heart rate, National Institutes of Health Stroke Scale (NIHSS) score, number of diffusion-positive lesion, count of red blood cell, high-density lipoprotein, and degree of stenosis differed significantly between the 2 groups. By multivariate analysis, systolic BP (170 mm Hg, odds ratio: 7.20, P <.001) was associated with ND. Furthermore, number of diffusion-weighted image (DWI)-positive lesion (8), degree of stenosis (>80.0%), and NIHSS score (4) were also independent factors associated with ND. High BP, severity of neurological deficit at the time of admission, and radiological findings, such as degree of stenosis and number of DWI-positive lesion, are independently associated with ND in patients with LAA.","ja":"In some patients with acute ischemic stroke, neurological deterioration (ND) is observed, and it is difficult to predict at the time of admission. Especially in some patients with large-artery atherosclerosis (LAA), aggressive medical treatments and surgical interventions might be helpful to prevent ND. Therefore, we investigated factors associated with ND in patients with LAA. We studied patients with LAA who were admitted to our hospital. We divided them into 2 groups with (group 1) and without deterioration (group 2), and evaluated their medical records, risk factors, and radiological findings, such as number of diffusion-positive lesion and degree of stenosis. Our study population consisted of 171 patients; 71 (41.5%) did and 100 (58.5%) did not suffer deterioration. By univariate analysis, blood pressure (BP), heart rate, National Institutes of Health Stroke Scale (NIHSS) score, number of diffusion-positive lesion, count of red blood cell, high-density lipoprotein, and degree of stenosis differed significantly between the 2 groups. By multivariate analysis, systolic BP (170 mm Hg, odds ratio: 7.20, P <.001) was associated with ND. Furthermore, number of diffusion-weighted image (DWI)-positive lesion (8), degree of stenosis (>80.0%), and NIHSS score (4) were also independent factors associated with ND. High BP, severity of neurological deficit at the time of admission, and radiological findings, such as degree of stenosis and number of DWI-positive lesion, are independently associated with ND in patients with LAA."},"publication_date":"2017-08","publication_name":{"en":"Journal of Stroke & Cerebrovascular Diseases","ja":"Journal of Stroke & Cerebrovascular Diseases"},"volume":"Vol.26","number":"No.8","starting_page":"1801","ending_page":"1806","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.jstrokecerebrovasdis.2017.04.011"],"issn":["1532-8511"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/28870597","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=335236","label":"url"}],"paper_title":{"en":"Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability.","ja":"Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability."},"authors":{"en":[{"name":"Kawarai Toshitaka"},{"name":"Montecchiani Celeste"},{"name":"Miyamoto Ryosuke"},{"name":"Gaudiello Fabrizio"},{"name":"Caltagirone Carlo"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"},{"name":"Orlacchio Antonio"}],"ja":[{"name":"瓦井 俊孝"},{"name":"Montecchiani Celeste"},{"name":"宮本 亮介"},{"name":"Gaudiello Fabrizio"},{"name":"Caltagirone Carlo"},{"name":"和泉 唯信"},{"name":"梶 龍兒"},{"name":"Orlacchio Antonio"}]},"description":{"en":"Mutations in SPG4/SPAST are the most frequent molecular aetiology in the autosomal dominant form of hereditary spastic paraplegia (HSP). Loss-of-function and haploinsufficiency in SPAST have been demonstrated and the pure form of spastic paraplegia is a main clinical manifestation. This study is to explore the novel SPAST splice site donor variant, c.1004+3A>C, in seven patients from two families, one from Italy and the other from Japan. Exon 6 is skipped out by the variant, leading to a premature termination of translation, p.Gly290Trpfs*5. Measurement of SPAST transcripts in lymphocytes demonstrated a reduction through nonsense-mediated mRNA decay (NMD). Intra- and inter-familial phenotypic variations were observed, including age-at-onset, severity of spasticity, and scoliosis. Our study demonstrated further evidence of allelic heterogeneity in SPG4, dosage effects through NMD, and broad clinical features of the SPAST mutation.","ja":"Mutations in SPG4/SPAST are the most frequent molecular aetiology in the autosomal dominant form of hereditary spastic paraplegia (HSP). Loss-of-function and haploinsufficiency in SPAST have been demonstrated and the pure form of spastic paraplegia is a main clinical manifestation. This study is to explore the novel SPAST splice site donor variant, c.1004+3A>C, in seven patients from two families, one from Italy and the other from Japan. Exon 6 is skipped out by the variant, leading to a premature termination of translation, p.Gly290Trpfs*5. Measurement of SPAST transcripts in lymphocytes demonstrated a reduction through nonsense-mediated mRNA decay (NMD). Intra- and inter-familial phenotypic variations were observed, including age-at-onset, severity of spasticity, and scoliosis. Our study demonstrated further evidence of allelic heterogeneity in SPG4, dosage effects through NMD, and broad clinical features of the SPAST mutation."},"publication_date":"2017-07-09","publication_name":{"en":"Journal of the Neurological Sciences","ja":"Journal of the Neurological Sciences"},"volume":"Vol.380","starting_page":"92","ending_page":"97","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.jns.2017.07.011"],"issn":["1878-5883"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/114300","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/28672841","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85021763034&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=325978","label":"url"}],"paper_title":{"en":"Clinicopathological Phenotype and Genetics of X-Linked Dystonia-Parkinsonism (XDP; DYT3; Lubag).","ja":"Clinicopathological Phenotype and Genetics of X-Linked Dystonia-Parkinsonism (XDP; DYT3; Lubag)."},"authors":{"en":[{"name":"Kawarai Toshitaka"},{"name":"Morigaki Ryoma"},{"name":"Kaji Ryuji"},{"name":"Goto Satoshi"}],"ja":[{"name":"瓦井 俊孝"},{"name":"森垣 龍馬"},{"name":"梶 龍兒"},{"name":"後藤 惠"}]},"description":{"en":"X-linked dystonia-parkinsonism (XDP; OMIM314250), also referred to as DYT3 dystonia or \"Lubag\" disease, was first described as an endemic disease in the Philippine island of Panay. XDP is an adult-onset movement disorder characterized by progressive and severe dystonia followed by overt parkinsonism in the later years of life. Among the primary monogenic dystonias, XDP has been identified as a transcriptional dysregulation syndrome with impaired expression of the TAF1 (TATA box-binding protein associated factor 1) gene, which is a critical component of the cellular transcription machinery. The major neuropathology of XDP is progressive neuronal loss in the neostriatum (i.e., the caudate nucleus and putamen). XDP may be used as a human disease model to elucidate the pathomechanisms by which striatal neurodegeneration leads to dystonia symptoms. In this article, we introduce recent advances in the understanding of the interplay between pathophysiology and genetics in XDP.","ja":"X-linked dystonia-parkinsonism (XDP; OMIM314250), also referred to as DYT3 dystonia or \"Lubag\" disease, was first described as an endemic disease in the Philippine island of Panay. XDP is an adult-onset movement disorder characterized by progressive and severe dystonia followed by overt parkinsonism in the later years of life. Among the primary monogenic dystonias, XDP has been identified as a transcriptional dysregulation syndrome with impaired expression of the TAF1 (TATA box-binding protein associated factor 1) gene, which is a critical component of the cellular transcription machinery. The major neuropathology of XDP is progressive neuronal loss in the neostriatum (i.e., the caudate nucleus and putamen). XDP may be used as a human disease model to elucidate the pathomechanisms by which striatal neurodegeneration leads to dystonia symptoms. In this article, we introduce recent advances in the understanding of the interplay between pathophysiology and genetics in XDP."},"publication_date":"2017-06-26","publication_name":{"en":"Brain Sciences","ja":"Brain Sciences"},"volume":"Vol.7","number":"No.7","starting_page":"72","ending_page":"72","languages":["eng"],"referee":true,"identifiers":{"doi":["10.3390/brainsci7070072"],"issn":["2076-3425"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/28694074","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=328824","label":"url"}],"paper_title":{"en":"Memory B cell resurgence requires repeated rituximab in myasthenia gravis","ja":"Memory B cell resurgence requires repeated rituximab in myasthenia gravis"},"authors":{"en":[{"name":"Kohei Muto"},{"name":"Matsui Naoko"},{"name":"Yuki Unai"},{"name":"Waka Sakai"},{"name":"Shotaro Haji"},{"name":"Kengo Udaka"},{"name":"Miki Hirokazu"},{"name":"Furukawa Takahiro"},{"name":"Abe Masahiro"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Kohei Muto"},{"name":"松井 尚子"},{"name":"Yuki Unai"},{"name":"酒井 和香"},{"name":"土師 正太郎"},{"name":"Kengo Udaka"},{"name":"三木 浩和"},{"name":"古川 貴大"},{"name":"安倍 正博"},{"name":"梶 龍兒"}]},"description":{"en":"The immunologic effects of rituximab (RTX) in myasthenia gravis (MG) remain to be explored. We aimed to clarify immunologic reactions and their association with response to RTX in MG. Regulatory T cell and B cell profiles of MG patients were monitored. Two patients presenting with generalized MG with anti-acetylcholine receptor antibodies were treated with RTX. The treatment led to sustained clinical improvement, discontinuation of intravenous immunoglobulin or plasma exchange, and reduction of prednisolone and other drugs. One patient was in remission for more than one year, whereas the other patient exhibited deterioration of symptoms within one year. Disease activity was associated with the repopulation of IgDCD27 and IgDCD27 memory B cells. Clinicians should be aware of the possibility that MG ranges in the duration of B cell depletion and additional RTX should be prescribed upon resurgence of memory B cells.","ja":"The immunologic effects of rituximab (RTX) in myasthenia gravis (MG) remain to be explored. We aimed to clarify immunologic reactions and their association with response to RTX in MG. Regulatory T cell and B cell profiles of MG patients were monitored. Two patients presenting with generalized MG with anti-acetylcholine receptor antibodies were treated with RTX. The treatment led to sustained clinical improvement, discontinuation of intravenous immunoglobulin or plasma exchange, and reduction of prednisolone and other drugs. One patient was in remission for more than one year, whereas the other patient exhibited deterioration of symptoms within one year. Disease activity was associated with the repopulation of IgDCD27 and IgDCD27 memory B cells. Clinicians should be aware of the possibility that MG ranges in the duration of B cell depletion and additional RTX should be prescribed upon resurgence of memory B cells."},"publication_date":"2017-06-21","publication_name":{"en":"Neuromuscular Disorders","ja":"Neuromuscular Disorders"},"volume":"Vol.27","number":"No.16","starting_page":"918","ending_page":"922","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.nmd.2017.06.012"],"issn":["1873-2364"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/28410288","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85017467575&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=332474","label":"url"}],"paper_title":{"en":"The utility of the combination of a SPECT study with [123I]-FP-CIT of dopamine transporters and [123I]-MIBG myocardial scintigraphy in differentiating Parkinson disease from other degenerative parkinsonian syndromes.","ja":"The utility of the combination of a SPECT study with [123I]-FP-CIT of dopamine transporters and [123I]-MIBG myocardial scintigraphy in differentiating Parkinson disease from other degenerative parkinsonian syndromes."},"authors":{"en":[{"name":"Uyama Naoto"},{"name":"Otsuka Hideki"},{"name":"Shinya Takayoshi"},{"name":"Otomi Youichi"},{"name":"Harada Masafumi"},{"name":"Sako Wataru"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"},{"name":"Watanabe Yuya"},{"name":"Takashi Satoru"},{"name":"Kunikane Yamato"}],"ja":[{"name":"宇山 直人"},{"name":"大塚 秀樹"},{"name":"新家 崇義"},{"name":"音見 暢一"},{"name":"原田 雅史"},{"name":"佐光 亘"},{"name":"Izumi Yuishin"},{"name":"梶 龍兒"},{"name":"Watanabe Yuya"},{"name":"Takashi Satoru"},{"name":"Kunikane Yamato"}]},"description":{"en":"Molecular imaging of nigrostriatal dopamine transporters (DAT) and sympathetic cardiac innervation with single-photon emission computed tomography (SPECT) are useful tools for differentiating idiopathic Parkinson disease (PD) from other degenerative parkinsonian syndromes (non-PD). Nevertheless, these modalities are often insufficient for achieving a definite diagnosis. The aims of this study were to evaluate the diagnostic accuracy of the combination of these tools. The SPECT radiotracers [I]-N-ω-fluoropropyl-2β-carbomethoxy-3β-(4-iodophenyl)-nortropane (FP-CIT) and meta-[I]-iodobenzylguanidine (MIBG) were used to research presynaptic dopaminergic projections (DAT SPECT) and myocardial adrenergic innervation (MIBG scintigraphy), respectively. PD patients (n=15; age: 61.5±13.6 years) and non-PD patients (n=19; age: 62.6±14.2 years) who underwent both tests were enrolled in this study. Receiver-operating characteristic analyses were used to set the cutoff values of the specific binding ratio in DAT SPECT and the heart to mediastinum ratio in delayed scan in MIBG scintigraphy for differentiating PD from non-PD. We calculated the sensitivity, specificity, and test accuracy of the individual methods and also the combination of these two modalities. When DAT SPECT and MIBG scintigraphy were used individually, they showed mild accuracy in differentiating PD from non-PD (DAT, 67.6%; MIBG, 67.6%). The combination of the two approaches using cutoff values of less than 3.24 for the specific binding ratio and less than 2.745 for the delayed heart to mediastinum ratio enabled more accurate differentiation between PD and non-PD. The accuracy of these indices in distinguishing PD from non-PD was 79.4%. These results suggested that the combination of DAT SPECT and MIBG scintigraphy may improve the diagnostic accuracy in differentiating PD from non-PD.","ja":"Molecular imaging of nigrostriatal dopamine transporters (DAT) and sympathetic cardiac innervation with single-photon emission computed tomography (SPECT) are useful tools for differentiating idiopathic Parkinson disease (PD) from other degenerative parkinsonian syndromes (non-PD). Nevertheless, these modalities are often insufficient for achieving a definite diagnosis. The aims of this study were to evaluate the diagnostic accuracy of the combination of these tools. The SPECT radiotracers [I]-N-ω-fluoropropyl-2β-carbomethoxy-3β-(4-iodophenyl)-nortropane (FP-CIT) and meta-[I]-iodobenzylguanidine (MIBG) were used to research presynaptic dopaminergic projections (DAT SPECT) and myocardial adrenergic innervation (MIBG scintigraphy), respectively. PD patients (n=15; age: 61.5±13.6 years) and non-PD patients (n=19; age: 62.6±14.2 years) who underwent both tests were enrolled in this study. Receiver-operating characteristic analyses were used to set the cutoff values of the specific binding ratio in DAT SPECT and the heart to mediastinum ratio in delayed scan in MIBG scintigraphy for differentiating PD from non-PD. We calculated the sensitivity, specificity, and test accuracy of the individual methods and also the combination of these two modalities. When DAT SPECT and MIBG scintigraphy were used individually, they showed mild accuracy in differentiating PD from non-PD (DAT, 67.6%; MIBG, 67.6%). The combination of the two approaches using cutoff values of less than 3.24 for the specific binding ratio and less than 2.745 for the delayed heart to mediastinum ratio enabled more accurate differentiation between PD and non-PD. The accuracy of these indices in distinguishing PD from non-PD was 79.4%. These results suggested that the combination of DAT SPECT and MIBG scintigraphy may improve the diagnostic accuracy in differentiating PD from non-PD."},"publication_date":"2017-06","publication_name":{"en":"Nuclear Medicine Communications","ja":"Nuclear Medicine Communications"},"volume":"Vol.38","number":"No.6","starting_page":"487","ending_page":"492","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1097/MNM.0000000000000674"],"issn":["1473-5628"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/111444","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/28397019","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=323978","label":"url"}],"paper_title":{"en":"Intra-arterial high signals on arterial spin labeling perfusion images predict the occluded internal carotid artery segment","ja":"Intra-arterial high signals on arterial spin labeling perfusion images predict the occluded internal carotid artery segment"},"authors":{"en":[{"name":"Sogabe Shu"},{"name":"Satomi Junichiro"},{"name":"Tada Yoshiteru"},{"name":"Kanematsu Yasuhisa"},{"name":"Kuwayama Kazuyuki"},{"name":"Yagi Kenji"},{"name":"Yoshioka Shotaroh"},{"name":"Mizobuchi Yoshifumi"},{"name":"Mure Hideo"},{"name":"Yamaguchi Izumi"},{"name":"Abe Takashi"},{"name":"Yamamoto Nobuaki"},{"name":"Kitazato Keiko"},{"name":"Kaji Ryuji"},{"name":"Harada Masafumi"},{"name":"Nagahiro Shinji"}],"ja":[{"name":"曽我部 周"},{"name":"里見 淳一郎"},{"name":"多田 恵曜"},{"name":"兼松 康久"},{"name":"桑山 一行"},{"name":"八木 謙次"},{"name":"吉岡 正太郎"},{"name":"溝渕 佳史"},{"name":"牟礼 英生"},{"name":"山口 泉"},{"name":"阿部 考志"},{"name":"山本 伸昭"},{"name":"Kitazato Keiko"},{"name":"梶 龍兒"},{"name":"原田 雅史"},{"name":"永廣 信治"}]},"description":{"en":"Arterial spin labeling (ASL) involves perfusion imaging using the inverted magnetization of arterial water. If the arterial arrival times are longer than the post-labeling delay, labeled spins are visible on ASL images as bright, high intra-arterial signals (IASs); such signals were found within occluded vessels of patients with acute ischemic stroke. The identification of the occluded segment in the internal carotid artery (ICA) is crucial for endovascular treatment. We tested our hypothesis that high IASs on ASL images can predict the occluded segment. Our study included 13 patients with acute ICA occlusion who had undergone angiographic and ASL studies within 48 h of onset. We retrospectively identified the high IAS on ASL images and angiograms and recorded the occluded segment and the number of high IAS-positive slices on ASL images. The ICA segments were classified as cervical (C1), petrous (C2), cavernous (C3), and supraclinoid (C4). Of seven patients with intracranial ICA occlusion, five demonstrated high IASs at C1-C2, suggesting that high IASs could identify stagnant flow proximal to the occluded segment. Among six patients with extracranial ICA occlusion, five presented with high IASs at C3-C4, suggesting that signals could identify the collateral flow via the ophthalmic artery. None had high IASs at C1-C2. The mean number of high IAS-positive slices was significantly higher in patients with intra- than extracranial ICA occlusion. High IASs on ASL images can identify slow stagnant and collateral flow through the ophthalmic artery in patients with acute ICA occlusion and help to predict the occlusion site.","ja":"Arterial spin labeling (ASL) involves perfusion imaging using the inverted magnetization of arterial water. If the arterial arrival times are longer than the post-labeling delay, labeled spins are visible on ASL images as bright, high intra-arterial signals (IASs); such signals were found within occluded vessels of patients with acute ischemic stroke. The identification of the occluded segment in the internal carotid artery (ICA) is crucial for endovascular treatment. We tested our hypothesis that high IASs on ASL images can predict the occluded segment. Our study included 13 patients with acute ICA occlusion who had undergone angiographic and ASL studies within 48 h of onset. We retrospectively identified the high IAS on ASL images and angiograms and recorded the occluded segment and the number of high IAS-positive slices on ASL images. The ICA segments were classified as cervical (C1), petrous (C2), cavernous (C3), and supraclinoid (C4). Of seven patients with intracranial ICA occlusion, five demonstrated high IASs at C1-C2, suggesting that high IASs could identify stagnant flow proximal to the occluded segment. Among six patients with extracranial ICA occlusion, five presented with high IASs at C3-C4, suggesting that signals could identify the collateral flow via the ophthalmic artery. None had high IASs at C1-C2. The mean number of high IAS-positive slices was significantly higher in patients with intra- than extracranial ICA occlusion. High IASs on ASL images can identify slow stagnant and collateral flow through the ophthalmic artery in patients with acute ICA occlusion and help to predict the occlusion site."},"publication_date":"2017-04-10","publication_name":{"en":"Neuroradiology","ja":"Neuroradiology"},"volume":"Vol.59","number":"No.6","starting_page":"587","ending_page":"595","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1007/s00234-017-1828-9"],"issn":["1432-1920"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/110142","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/28196470","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=328801","label":"url"}],"paper_title":{"en":"Proteasome impairment in neural cells derived from HMSN-P patient iPSCs.","ja":"Proteasome impairment in neural cells derived from HMSN-P patient iPSCs."},"authors":{"en":[{"name":"Murakami Nagahisa"},{"name":"Imamura Keiko"},{"name":"Izumi Yuishin"},{"name":"Egawa Naohiro"},{"name":"Tsukita Kayoko"},{"name":"Enami Takako"},{"name":"Yamamoto Takuya"},{"name":"Kawarai Toshitaka"},{"name":"Kaji Ryuji"},{"name":"Inoue Haruhisa"}],"ja":[{"name":"Murakami Nagahisa"},{"name":"Imamura Keiko"},{"name":"和泉 唯信"},{"name":"Egawa Naohiro"},{"name":"Tsukita Kayoko"},{"name":"Enami Takako"},{"name":"Yamamoto Takuya"},{"name":"瓦井 俊孝"},{"name":"梶 龍兒"},{"name":"Inoue Haruhisa"}]},"description":{"en":"Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is caused by a heterozygous mutation (P285L) in Tropomyosin-receptor kinase Fused Gene (TFG), histopathologically characterized by progressive spinal motor neuron loss with TFG cytosolic aggregates. Although the TFG protein, found as a type of fusion oncoprotein, is known to facilitate vesicle transport from endoplasmic reticulum (ER) to Golgi apparatus at ER exit site, it is unclear how mutant TFG causes motor neuron degeneration. Here we generated induced pluripotent stem cells (iPSCs) from HMSN-P patients, and differentiated the iPSCs into neural cells with spinal motor neurons (iPS-MNs). We found that HMSN-P patient iPS-MNs exhibited ubiquitin proteasome system (UPS) impairment, and HMSN-P patient iPS-MNs were vulnerable to UPS inhibitory stress. Gene correction of the mutation in TFG using the CRISPR-Cas9 system reverted the cellular phenotypes of HMSN-P patient iPS-MNs. Collectively, these results suggest that our cellular model with defects in cellular integrity including UPS impairments may lead to identification of pathomechanisms and a therapeutic target for HMSN-P.","ja":"Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is caused by a heterozygous mutation (P285L) in Tropomyosin-receptor kinase Fused Gene (TFG), histopathologically characterized by progressive spinal motor neuron loss with TFG cytosolic aggregates. Although the TFG protein, found as a type of fusion oncoprotein, is known to facilitate vesicle transport from endoplasmic reticulum (ER) to Golgi apparatus at ER exit site, it is unclear how mutant TFG causes motor neuron degeneration. Here we generated induced pluripotent stem cells (iPSCs) from HMSN-P patients, and differentiated the iPSCs into neural cells with spinal motor neurons (iPS-MNs). We found that HMSN-P patient iPS-MNs exhibited ubiquitin proteasome system (UPS) impairment, and HMSN-P patient iPS-MNs were vulnerable to UPS inhibitory stress. Gene correction of the mutation in TFG using the CRISPR-Cas9 system reverted the cellular phenotypes of HMSN-P patient iPS-MNs. Collectively, these results suggest that our cellular model with defects in cellular integrity including UPS impairments may lead to identification of pathomechanisms and a therapeutic target for HMSN-P."},"publication_date":"2017-02-15","publication_name":{"en":"Molecular Brain","ja":"Molecular Brain"},"volume":"Vol.10","number":"No.1","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1186/s13041-017-0286-y"],"issn":["1756-6606"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/28132977","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85017414707&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=328809","label":"url"}],"paper_title":{"en":"Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease.","ja":"シャルコー・マリー・トウース病に類似した三頭酵素欠損症の成人例"},"authors":{"en":[{"name":"Yamamoto Yuki"},{"name":"Matsui Naoko"},{"name":"平松 有"},{"name":"Miyazaki Yoshimichi"},{"name":"Nodera Hiroyuki"},{"name":"Izumi Yuishin"},{"name":"高嶋 博"},{"name":"Kaji Ryuji"}],"ja":[{"name":"山本 雄貴"},{"name":"松井 尚子"},{"name":"平松 有"},{"name":"宮﨑 由道"},{"name":"野寺 裕之"},{"name":"和泉 唯信"},{"name":"高嶋 博"},{"name":"梶 龍兒"}]},"description":{"en":"A 45-year-old man presented to us due to slowly progressive muscle weakness and sensory disturbances in his lower limbs since his 40's. He reported multiple episodes of exercise-induced severe muscle fatigue and brown urine in his childhood, which disappeared by age 20. A nerve conduction study showed peripheral axonal neuropathy and then Charcot-Marie-Tooth disease (CMT) was considered as the most likely diagnosis; however, exome sequencing failed to identify a mutation in the known genes of CMTs. Since age 55, he recurrently developed severe rhabdomyolysis that required hospitalization. On suspicion of lipid metabolism disorders, we performed serum acylcarnitine analysis, and which revealed mildly elevated long-chain fatty acids. We re-examined variants obtained via exome sequencing and found a mutation in HADHB. Mitochondrial trifunctional protein (MTP) deficiency is a rare autosomal recessive disorder of mitochondrial fatty acid beta-oxidation caused by HADHA or HADHB mutation. It can be a life-threatening multiorgan disorder with early infantile onset, but it can also present in childhood or adolescence with peripheral neuropathy and recurrent rhabdomyolysis. This case of adult-diagnosed MTP deficiency was characterized by slowly progressive peripheral neuropathy masquerading CMT in addition to muscular symptoms. MTP deficiency should be considered in patients with the combination of peripheral neuropathy and recurrent rhabdomyolysis.","ja":"A 45-year-old man presented to us due to slowly progressive muscle weakness and sensory disturbances in his lower limbs since his 40's. He reported multiple episodes of exercise-induced severe muscle fatigue and brown urine in his childhood, which disappeared by age 20. A nerve conduction study showed peripheral axonal neuropathy and then Charcot-Marie-Tooth disease (CMT) was considered as the most likely diagnosis; however, exome sequencing failed to identify a mutation in the known genes of CMTs. Since age 55, he recurrently developed severe rhabdomyolysis that required hospitalization. On suspicion of lipid metabolism disorders, we performed serum acylcarnitine analysis, and which revealed mildly elevated long-chain fatty acids. We re-examined variants obtained via exome sequencing and found a mutation in HADHB. Mitochondrial trifunctional protein (MTP) deficiency is a rare autosomal recessive disorder of mitochondrial fatty acid beta-oxidation caused by HADHA or HADHB mutation. It can be a life-threatening multiorgan disorder with early infantile onset, but it can also present in childhood or adolescence with peripheral neuropathy and recurrent rhabdomyolysis. This case of adult-diagnosed MTP deficiency was characterized by slowly progressive peripheral neuropathy masquerading CMT in addition to muscular symptoms. MTP deficiency should be considered in patients with the combination of peripheral neuropathy and recurrent rhabdomyolysis."},"publication_date":"2017-02","publication_name":{"en":"Clinical Neurology","ja":"臨床神経学"},"volume":"Vol.57","number":"No.2","starting_page":"82","ending_page":"87","languages":["jpn"],"referee":true,"identifiers":{"doi":["10.5692/clinicalneurol.cn-000976"],"issn":["1882-0654"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/28132975","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85017467963&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=328807","label":"url"}],"paper_title":{"en":"A case of neuromyelitis optica spectrum disorder (NMOSD) with Sjögren's syndrome manifested only brain involvement by preceding parotitis.","ja":"耳下腺炎を契機に発症し,脳病変のみを反復したシェーグレン症候群合併視神経脊髄炎関連疾患の一例"},"authors":{"en":[{"name":"Furukawa Takahiro"},{"name":"Matsui Naoko"},{"name":"田中 惠子"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"古川 貴大"},{"name":"松井 尚子"},{"name":"田中 惠子"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"A 33 year-old woman presented with intentional incontinence, motor aphasia, supranuclear gaze palsy, and spasticity after parotitis. Brain magnetic resonance images (MRI) showed abnormal signaling in long corticospinal tract involving internal capsules and cerebral peduncles, middle cerebellar peduncle, and frontal subcortical white matter lesions. She had a long history of dry eye and mouth. Immunoserological study showed that she was positive for anti-SS-A, aquaporin 4 (AQP4), and AQP5 antibodies. She clinically showed not only Sjögren's syndrome but also neuromyelitis optica spectrum disorder (NMOSD) without optic neuritis or myelitis. She responded to steroid followed by plasma exchange dramatically. Thereafter, the relapse of brain lesion was once detected while tapering of steroid, but her symptoms have been stable for several years after administration of immunosuppressant. This case suggested that salivary gland inflammation might be associated with the pathogenesis of NMOSD.","ja":"A 33 year-old woman presented with intentional incontinence, motor aphasia, supranuclear gaze palsy, and spasticity after parotitis. Brain magnetic resonance images (MRI) showed abnormal signaling in long corticospinal tract involving internal capsules and cerebral peduncles, middle cerebellar peduncle, and frontal subcortical white matter lesions. She had a long history of dry eye and mouth. Immunoserological study showed that she was positive for anti-SS-A, aquaporin 4 (AQP4), and AQP5 antibodies. She clinically showed not only Sjögren's syndrome but also neuromyelitis optica spectrum disorder (NMOSD) without optic neuritis or myelitis. She responded to steroid followed by plasma exchange dramatically. Thereafter, the relapse of brain lesion was once detected while tapering of steroid, but her symptoms have been stable for several years after administration of immunosuppressant. This case suggested that salivary gland inflammation might be associated with the pathogenesis of NMOSD."},"publication_date":"2017-02","publication_name":{"en":"Clinical Neurology","ja":"臨床神経学"},"volume":"Vol.57","number":"No.2","starting_page":"77","ending_page":"81","languages":["jpn"],"referee":true,"identifiers":{"doi":["10.5692/clinicalneurol.cn-000924"],"issn":["1882-0654"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/27842984","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=322238","label":"url"}],"paper_title":{"en":"Usefulness of 3-Tesla magnetic resonance arterial spin-labeled imaging for diagnosis of cranial dural arteriovenous fistula","ja":"Usefulness of 3-Tesla magnetic resonance arterial spin-labeled imaging for diagnosis of cranial dural arteriovenous fistula"},"authors":{"en":[{"name":"Yamamoto Nobuaki"},{"name":"Satomi Junichiro"},{"name":"Yamamoto Yuki"},{"name":"Yamaguchi Izumi"},{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"}],"ja":[{"name":"山本 伸昭"},{"name":"里見 淳一郎"},{"name":"Yamamoto Yuki"},{"name":"山口 泉"},{"name":"永廣 信治"},{"name":"梶 龍兒"}]},"description":{"en":"Conventional digital subtraction angiography (DSA) has been a useful tool for the diagnosis of cranial dural arteriovenous fistula (cDAVF). In most patients with cDAVF, blood flow through the arteriovenous shunt was pooled at diseased veins and/or sinuses. Therefore, we speculated that pooled blood at diseased veins in patients with cDAVF could be detected on arterial spin-labeled imaging (ASL). The purpose of the present study was to investigate the usefulness of ASL to detect cDAVF. Consecutive 13 patients with cDAVF who were admitted to our hospital between April 2013 and September 2016 were included in our study. We performed magnetic resonance imaging (MRI), including ASL, before DSA and within 7days after treatment for all of our patients. The accuracy for diagnosis of cDAVF was compared between conventional MRI findings and ASL findings. We also investigated the difference in ASL findings before and after treatment. We could detect venous ASL signals in 12 patients, and this was more sensitive for diagnosis of cDAVF versus conventional MRI findings. ASL found the same location of cDAVF as conventional angiography. After successful treatment, venous ASL signals disappeared. ASL might be useful to detect cDAVF and predict the location of diseased sinuses.","ja":"Conventional digital subtraction angiography (DSA) has been a useful tool for the diagnosis of cranial dural arteriovenous fistula (cDAVF). In most patients with cDAVF, blood flow through the arteriovenous shunt was pooled at diseased veins and/or sinuses. Therefore, we speculated that pooled blood at diseased veins in patients with cDAVF could be detected on arterial spin-labeled imaging (ASL). The purpose of the present study was to investigate the usefulness of ASL to detect cDAVF. Consecutive 13 patients with cDAVF who were admitted to our hospital between April 2013 and September 2016 were included in our study. We performed magnetic resonance imaging (MRI), including ASL, before DSA and within 7days after treatment for all of our patients. The accuracy for diagnosis of cDAVF was compared between conventional MRI findings and ASL findings. We also investigated the difference in ASL findings before and after treatment. We could detect venous ASL signals in 12 patients, and this was more sensitive for diagnosis of cDAVF versus conventional MRI findings. ASL found the same location of cDAVF as conventional angiography. After successful treatment, venous ASL signals disappeared. ASL might be useful to detect cDAVF and predict the location of diseased sinuses."},"publication_date":"2017-01-15","publication_name":{"en":"Journal of the Neurological Sciences","ja":"Journal of the Neurological Sciences"},"volume":"Vol.372","starting_page":"428","ending_page":"432","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.jns.2016.11.011"],"issn":["1878-5883"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/28536173","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85019546161&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=325748","label":"url"}],"paper_title":{"en":"Optimal Timing of Diffusion-Weighted Imaging to Avoid False-Negative Findings in Patients With Transient Ischemic Attack","ja":"Optimal Timing of Diffusion-Weighted Imaging to Avoid False-Negative Findings in Patients With Transient Ischemic Attack"},"authors":{"en":[{"name":"Shono Kenji"},{"name":"Satomi Junichiro"},{"name":"Tada Yoshiteru"},{"name":"Kanematsu Yasuhisa"},{"name":"Yamamoto Nobuaki"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"},{"name":"Harada Masafumi"},{"name":"Nagahiro Shinji"}],"ja":[{"name":"庄野 健児"},{"name":"里見 淳一郎"},{"name":"多田 恵曜"},{"name":"兼松 康久"},{"name":"山本 伸昭"},{"name":"和泉 唯信"},{"name":"梶 龍兒"},{"name":"原田 雅史"},{"name":"永廣 信治"}]},"description":{"en":"We aimed to investigate the optimal timing of diffusion-weighted imaging (DWI) in patients with transient ischemic attack (TIA). Seventy-three consecutive patients with TIA underwent DWI on admission (initial DWI) and at 24 hours after admission (second DWI). Patients were divided into 2 groups based on initial DWI findings in relation to the second examination: false negative (group 1) and other (group 2). The probability of initial false-negative findings was determined for each hour from TIA onset to initial DWI. Multivariate analysis was used to evaluate the independent risk factors associated with false-negative findings on initial DWI. Of the 73 patients examined (56 men; mean age, 68 years), 9 (12%) were categorized into group 1. The latency from TIA onset to initial DWI was 1.7±0.6 hours for group 1 (range, 1-2.8 hours) and 3.3±2.6 hours for group 2 (range, 35 minutes to 12 hours). The probability of false-negative findings on initial DWI decreased in a time-dependent manner (25%, 21%, and 7% for 1, 2, and 3 hours, respectively), and no false-negative findings were observed on initial DWI performed at >3 hours from symptom onset. Short latency (2 hours) from TIA onset to initial DWI was an independent risk factor related to false-negative findings (odds ratio, 13.11; 95% confidence interval, 1.07-161.38; P=0.045). If the duration between TIA symptom onset and initial DWI is <2 hours, a repeat examination should be performed to minimize the risk of false-positive findings.","ja":"We aimed to investigate the optimal timing of diffusion-weighted imaging (DWI) in patients with transient ischemic attack (TIA). Seventy-three consecutive patients with TIA underwent DWI on admission (initial DWI) and at 24 hours after admission (second DWI). Patients were divided into 2 groups based on initial DWI findings in relation to the second examination: false negative (group 1) and other (group 2). The probability of initial false-negative findings was determined for each hour from TIA onset to initial DWI. Multivariate analysis was used to evaluate the independent risk factors associated with false-negative findings on initial DWI. Of the 73 patients examined (56 men; mean age, 68 years), 9 (12%) were categorized into group 1. The latency from TIA onset to initial DWI was 1.7±0.6 hours for group 1 (range, 1-2.8 hours) and 3.3±2.6 hours for group 2 (range, 35 minutes to 12 hours). The probability of false-negative findings on initial DWI decreased in a time-dependent manner (25%, 21%, and 7% for 1, 2, and 3 hours, respectively), and no false-negative findings were observed on initial DWI performed at >3 hours from symptom onset. Short latency (2 hours) from TIA onset to initial DWI was an independent risk factor related to false-negative findings (odds ratio, 13.11; 95% confidence interval, 1.07-161.38; P=0.045). If the duration between TIA symptom onset and initial DWI is <2 hours, a repeat examination should be performed to minimize the risk of false-positive findings."},"publication_date":"2017-01","publication_name":{"en":"Stroke","ja":"Stroke"},"volume":"Vol.48","number":"No.7","starting_page":"1990","ending_page":"1992","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1161/STROKEAHA.117.014576"],"issn":["1524-4628"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/116229","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/28025469","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85031294587&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=328253","label":"url"}],"paper_title":{"en":"MR Spectroscopy in Patients with Hereditary Diffuse Leukoencephalopathy with Spheroids and Asymptomatic Carriers of Colony-stimulating Factor 1 Receptor Mutation.","ja":"MR Spectroscopy in Patients with Hereditary Diffuse Leukoencephalopathy with Spheroids and Asymptomatic Carriers of Colony-stimulating Factor 1 Receptor Mutation."},"authors":{"en":[{"name":"Abe Takashi"},{"name":"Kawarai Toshitaka"},{"name":"Fujita Koji"},{"name":"Sako Wataru"},{"name":"Terasawa Yuka"},{"name":"Matsuda Tsuyoshi"},{"name":"Sakai Waka"},{"name":"Tsukamoto-Miyashiro Ai"},{"name":"Matsui Naoko"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"},{"name":"Harada Masafumi"}],"ja":[{"name":"阿部 考志"},{"name":"瓦井 俊孝"},{"name":"藤田 浩司"},{"name":"佐光 亘"},{"name":"寺澤 由佳"},{"name":"Matsuda Tsuyoshi"},{"name":"Sakai Waka"},{"name":"Tsukamoto-Miyashiro Ai"},{"name":"松井 尚子"},{"name":"Izumi Yuishin"},{"name":"梶 龍兒"},{"name":"原田 雅史"}]},"description":{"en":"Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare neurodegenerative disorder with various clinical presentations. Mutation of the colony-stimulating factor 1 receptor (CSF1R) gene is considered to be a cause of this autosomal dominant disorder. The purpose of this study was to report magnetic resonance spectroscopy (MRS) findings in patients with HDLS and asymptomatic carriers and to clarify the use of MRS in this disease. In this retrospective, institutional review board-approved study, we included four consecutive patients, genetically diagnosed with HDLS, and two asymptomatic carriers after acquiring informed consent. We performed single-voxel MRS of the left centrum semiovale on a 3-T clinical scanner. We also included a sex-matched normal dataset. We quantified N-acetylaspartate (NAA), creatine, choline-containing compounds (Cho), glutamine, glutamate (Glu), myo-inositol (Ins), glutathione, lactate (Lac), and gamma-amino butyric acid using LCModel. We performed statistical analysis, and P value <0.05 was considered significant. In HDLS cases, MRS revealed decreased NAA and Glu concentrations, which probably reflected neuronal damage and/or loss, and a subsequent reduction of neurotransmitters. A patient with HDLS also had increased Cho and Ins concentrations, indicating gliosis, and increased Cho concentration was also observed in an asymptomatic carrier. This suggests that metabolic changes had already occurred in an asymptomatic state. We demonstrated changes in metabolite concentrations not only in patients with HDLS but also in asymptomatic CSF1R mutation carriers. Our study indicates that MRS is a potentially useful tool for the analysis of metabolic and pathophysiological findings of HDLS, even during the early stages of disease.","ja":"Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare neurodegenerative disorder with various clinical presentations. Mutation of the colony-stimulating factor 1 receptor (CSF1R) gene is considered to be a cause of this autosomal dominant disorder. The purpose of this study was to report magnetic resonance spectroscopy (MRS) findings in patients with HDLS and asymptomatic carriers and to clarify the use of MRS in this disease. In this retrospective, institutional review board-approved study, we included four consecutive patients, genetically diagnosed with HDLS, and two asymptomatic carriers after acquiring informed consent. We performed single-voxel MRS of the left centrum semiovale on a 3-T clinical scanner. We also included a sex-matched normal dataset. We quantified N-acetylaspartate (NAA), creatine, choline-containing compounds (Cho), glutamine, glutamate (Glu), myo-inositol (Ins), glutathione, lactate (Lac), and gamma-amino butyric acid using LCModel. We performed statistical analysis, and P value <0.05 was considered significant. In HDLS cases, MRS revealed decreased NAA and Glu concentrations, which probably reflected neuronal damage and/or loss, and a subsequent reduction of neurotransmitters. A patient with HDLS also had increased Cho and Ins concentrations, indicating gliosis, and increased Cho concentration was also observed in an asymptomatic carrier. This suggests that metabolic changes had already occurred in an asymptomatic state. We demonstrated changes in metabolite concentrations not only in patients with HDLS but also in asymptomatic CSF1R mutation carriers. Our study indicates that MRS is a potentially useful tool for the analysis of metabolic and pathophysiological findings of HDLS, even during the early stages of disease."},"publication_date":"2016-12-26","publication_name":{"en":"Magnetic Resonance in Medical Sciences","ja":"Magnetic Resonance in Medical Sciences"},"volume":"Vol.16","number":"No.4","starting_page":"297","ending_page":"303","languages":["eng"],"referee":true,"identifiers":{"doi":["10.2463/mrms.mp.2016-0016"],"issn":["1880-2206"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"http://id.ndl.go.jp/bib/029361824","label":"url"},{"@id":"https://cir.nii.ac.jp/crid/1520853833839457024/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=322398","label":"url"}],"paper_title":{"en":"ジストニアに対する脳深部刺激療法:淡蒼球刺激と視床刺激の併用","ja":"ジストニアに対する脳深部刺激療法:淡蒼球刺激と視床刺激の併用"},"authors":{"en":[{"name":"Mure Hideo"},{"name":"Morigaki Ryoma"},{"name":"Ohkita Shinya"},{"name":"Miyamoto Ryosuke"},{"name":"Kaji Ryuji"},{"name":"Nagahiro Shinji"},{"name":"Goto Satoshi"}],"ja":[{"name":"牟礼 英生"},{"name":"森垣 龍馬"},{"name":"大北 真哉"},{"name":"宮本 亮介"},{"name":"梶 龍兒"},{"name":"永廣 信治"},{"name":"後藤 惠"}]},"publication_date":"2016-12-26","publication_name":{"en":"Functional Neurosurgery","ja":"機能的脳神経外科"},"volume":"Vol.55","starting_page":"80","ending_page":"86","languages":["jpn"],"referee":true,"identifiers":{"issn":["1344-9699"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/114470","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/28082923","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85009160109&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=322251","label":"url"}],"paper_title":{"en":"Therapeutic Perspective on Tardive Syndrome with Special Reference to Deep Brain Stimulation","ja":"Therapeutic Perspective on Tardive Syndrome with Special Reference to Deep Brain Stimulation"},"authors":{"en":[{"name":"Morigaki Ryoma"},{"name":"Mure Hideo"},{"name":"Kaji Ryuji"},{"name":"Nagahiro Shinji"},{"name":"Goto Satoshi"}],"ja":[{"name":"森垣 龍馬"},{"name":"牟礼 英生"},{"name":"梶 龍兒"},{"name":"永廣 信治"},{"name":"後藤 惠"}]},"description":{"en":"Tardive syndrome (TDS) is a potentially permanent and irreversible hyperkinetic movement disorder caused by exposure to dopamine receptor blocking agents. Guidelines published by the American Academy of Neurology recommend pharmacological first-line treatment for TDS with clonazepam (level B), ginkgo biloba (level B), amantadine (level C), and tetrabenazine (level C). Recently, a class II study provided level C evidence for use of deep brain stimulation (DBS) of the globus pallidus internus (GPi) in patients with TDS. Although the precise pathogenesis of TDS remains to be elucidated, the beneficial effects of GPi-DBS in patients with TDS suggest that the disease may be a basal ganglia disorder. In addition to recent advances in understanding the pathophysiology of TDS, this article introduces the current use of DBS in the treatment of medically intractable TDS.","ja":"Tardive syndrome (TDS) is a potentially permanent and irreversible hyperkinetic movement disorder caused by exposure to dopamine receptor blocking agents. Guidelines published by the American Academy of Neurology recommend pharmacological first-line treatment for TDS with clonazepam (level B), ginkgo biloba (level B), amantadine (level C), and tetrabenazine (level C). Recently, a class II study provided level C evidence for use of deep brain stimulation (DBS) of the globus pallidus internus (GPi) in patients with TDS. Although the precise pathogenesis of TDS remains to be elucidated, the beneficial effects of GPi-DBS in patients with TDS suggest that the disease may be a basal ganglia disorder. In addition to recent advances in understanding the pathophysiology of TDS, this article introduces the current use of DBS in the treatment of medically intractable TDS."},"publication_date":"2016-12-26","publication_name":{"en":"Frontiers in Psychiatry","ja":"Frontiers in Psychiatry"},"volume":"Vol.7","starting_page":"207","ending_page":"207","languages":["eng"],"referee":true,"identifiers":{"doi":["10.3389/fpsyt.2016.00207"],"issn":["1664-0640"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/114517","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/27821140","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=328820","label":"url"}],"paper_title":{"en":"Multicenter questionnaire survey for sporadic inclusion body myositis in Japan","ja":"Multicenter questionnaire survey for sporadic inclusion body myositis in Japan"},"authors":{"en":[{"name":"Suzuki Naoki"},{"name":"Mori-Yoshimura Madoka"},{"name":"Yamashita Satoshi"},{"name":"Nakano Satoshi"},{"name":"Murata Ken-ya"},{"name":"Inamori Yukie"},{"name":"Matsui Naoko"},{"name":"Kimura En"},{"name":"Kusaka Hirofumi"},{"name":"Kondo Tomoyoshi"},{"name":"Higuchi Itsuro"},{"name":"Kaji Ryuji"},{"name":"Tateyama Maki"},{"name":"Izumi Rumiko"},{"name":"Ono Hiroya"},{"name":"Kato Masaaki"},{"name":"Warita Hitoshi"},{"name":"Takahashi Toshiaki"},{"name":"Nishino Ichizo"},{"name":"Aoki Masashi"}],"ja":[{"name":"Suzuki Naoki"},{"name":"Mori-Yoshimura Madoka"},{"name":"Yamashita Satoshi"},{"name":"Nakano Satoshi"},{"name":"Murata Ken-ya"},{"name":"Inamori Yukie"},{"name":"松井 尚子"},{"name":"Kimura En"},{"name":"Kusaka Hirofumi"},{"name":"Kondo Tomoyoshi"},{"name":"Higuchi Itsuro"},{"name":"梶 龍兒"},{"name":"Tateyama Maki"},{"name":"Izumi Rumiko"},{"name":"Ono Hiroya"},{"name":"Kato Masaaki"},{"name":"Warita Hitoshi"},{"name":"Takahashi Toshiaki"},{"name":"Nishino Ichizo"},{"name":"Aoki Masashi"}]},"description":{"en":"Sporadic inclusion body myositis (sIBM) is the most prevalent acquired muscle disease in the elderly. sIBM is an intractable and progressive disease of unknown cause and without effective treatment. The etiology of sIBM is still unknown; however, genetic factors, aging, lifestyles, and environmental factors may be involved. The purpose of this study is to elucidate the cross-sectional profile of patients affected by sIBM in Japan. We surveyed patient data for 146 cases diagnosed at a number of centers across Japan. We also issued a questionnaire for 67 patients and direct caregivers to further elucidate the natural history of the disease. The mean age at the onset was 63.4 ± 9.2 years. The mean length of time from the onset to diagnosis was 55.52 ± 49.72 months, suggesting that there is a difficulty in diagnosing this disease with long-term consequences because of late treatment. 73 % described the psychological/mental aspect of the disease. The most popular primary caregiver was the patient's spouse and 57 % patients mentioned that they were having problems managing the finances. Through these surveys, we described the cross-sectional profiles of sIBM in Japan. Many patients described psychological/mental and financial anxiety because of the aged profile of sIBM patients. The profiles of sIBM patients are similar to those in Western countries.","ja":"Sporadic inclusion body myositis (sIBM) is the most prevalent acquired muscle disease in the elderly. sIBM is an intractable and progressive disease of unknown cause and without effective treatment. The etiology of sIBM is still unknown; however, genetic factors, aging, lifestyles, and environmental factors may be involved. The purpose of this study is to elucidate the cross-sectional profile of patients affected by sIBM in Japan. We surveyed patient data for 146 cases diagnosed at a number of centers across Japan. We also issued a questionnaire for 67 patients and direct caregivers to further elucidate the natural history of the disease. The mean age at the onset was 63.4 ± 9.2 years. The mean length of time from the onset to diagnosis was 55.52 ± 49.72 months, suggesting that there is a difficulty in diagnosing this disease with long-term consequences because of late treatment. 73 % described the psychological/mental aspect of the disease. The most popular primary caregiver was the patient's spouse and 57 % patients mentioned that they were having problems managing the finances. Through these surveys, we described the cross-sectional profiles of sIBM in Japan. Many patients described psychological/mental and financial anxiety because of the aged profile of sIBM patients. The profiles of sIBM patients are similar to those in Western countries."},"publication_date":"2016-11-08","publication_name":{"en":"Orphanet Journal of Rare Diseases","ja":"Orphanet Journal of Rare Diseases"},"volume":"Vol.11","number":"No.1","starting_page":"146","ending_page":"146","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1186/s13023-016-0524-x"],"issn":["1750-1172"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/112325","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/27659682","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84988568998&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=320770","label":"url"}],"paper_title":{"en":"Transmission of survival signals through Delta-like 1 on activated CD4(+) T cells.","ja":"Transmission of survival signals through Delta-like 1 on activated CD4(+) T cells."},"authors":{"en":[{"name":"Furukawa Takahiro"},{"name":"Ishifune Chieko"},{"name":"Tsukumo Shin-ichi"},{"name":"Hozumi Katsuto"},{"name":"Maekawa Yoichi"},{"name":"Matsui Naoko"},{"name":"Kaji Ryuji"},{"name":"Yasutomo Koji"}],"ja":[{"name":"Furukawa Takahiro"},{"name":"石舟 智恵子"},{"name":"九十九 伸一"},{"name":"Hozumi Katsuto"},{"name":"前川 洋一"},{"name":"松井 尚子"},{"name":"梶 龍兒"},{"name":"安友 康二"}]},"description":{"en":"Notch expressed on CD4(+) T cells transduces signals that mediate their effector functions and survival. Although Notch signaling is known to be cis-inhibited by Notch ligands expressed on the same cells, the role of Notch ligands on T cells remains unclear. In this report we demonstrate that the CD4(+) T cell Notch ligand Dll1 transduces signals required for their survival. Co-transfer of CD4(+) T cells from Dll1(-/-) and control mice into recipient mice followed by immunization revealed a rapid decline of CD4(+) T cells from Dll1(-/-) mice compared with control cells. Dll1(-/-) mice exhibited lower clinical scores of experimental autoimmune encephalitis than control mice. The expression of Notch target genes in CD4(+) T cells from Dll1(-/-) mice was not affected, suggesting that Dll1 deficiency in T cells does not affect cis Notch signaling. Overexpression of the intracellular domain of Dll1 in Dll1-deficient CD4(+) T cells partially rescued impaired survival. Our data demonstrate that Dll1 is an independent regulator of Notch-signaling important for the survival of activated CD4(+) T cells, and provide new insight into the physiological roles of Notch ligands as well as a regulatory mechanism important for maintaining adaptive immune responses.","ja":"Notch expressed on CD4(+) T cells transduces signals that mediate their effector functions and survival. Although Notch signaling is known to be cis-inhibited by Notch ligands expressed on the same cells, the role of Notch ligands on T cells remains unclear. In this report we demonstrate that the CD4(+) T cell Notch ligand Dll1 transduces signals required for their survival. Co-transfer of CD4(+) T cells from Dll1(-/-) and control mice into recipient mice followed by immunization revealed a rapid decline of CD4(+) T cells from Dll1(-/-) mice compared with control cells. Dll1(-/-) mice exhibited lower clinical scores of experimental autoimmune encephalitis than control mice. The expression of Notch target genes in CD4(+) T cells from Dll1(-/-) mice was not affected, suggesting that Dll1 deficiency in T cells does not affect cis Notch signaling. Overexpression of the intracellular domain of Dll1 in Dll1-deficient CD4(+) T cells partially rescued impaired survival. Our data demonstrate that Dll1 is an independent regulator of Notch-signaling important for the survival of activated CD4(+) T cells, and provide new insight into the physiological roles of Notch ligands as well as a regulatory mechanism important for maintaining adaptive immune responses."},"publication_date":"2016-09-23","publication_name":{"en":"Scientific Reports","ja":"Scientific Reports"},"volume":"Vol.6","starting_page":"33692","ending_page":"33692","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1038/srep33692"],"issn":["2045-2322"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"http://ci.nii.ac.jp/naid/130005950164/","label":"url"},{"@id":"https://cir.nii.ac.jp/crid/1390282681425704832/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=328806","label":"url"}],"paper_title":{"en":"A Case of Anti-SRP Positive Immune-mediated Necrotizing Myopathy Treated Effectively with Combined Immunotherapy","ja":"複合的免疫治療が奏功した抗SRP抗体陽性壊死性ミオパチーの1例"},"authors":{"en":[{"name":"山下 雄也"},{"name":"Yamazaki Hiroki"},{"name":"Matsui Naoko"},{"name":"Miyazaki Yoshimichi"},{"name":"塚本 愛"},{"name":"西野 一三"},{"name":"鈴木 重明"},{"name":"西田 善彦"},{"name":"Nodera Hiroyuki"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"山下 雄也"},{"name":"山崎 博輝"},{"name":"松井 尚子"},{"name":"宮﨑 由道"},{"name":"塚本 愛"},{"name":"西野 一三"},{"name":"鈴木 重明"},{"name":"西田 善彦"},{"name":"野寺 裕之"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"
症例は60歳代,男性.全身倦怠感,四肢脱力を主訴に受診.筋炎としステロイド単独で治療を開始したが,反応性は乏しく,筋病理・抗体検査にて抗SRP抗体陽性壊死性ミオパチー(anti-signal recognition particle immune-mediated necrotizing myopathy:anti-SRP iNM)と診断し,免疫グロブリン大量静注療法,免疫抑制薬を併用したところ,症状の改善を得た.積極的に自己抗体の測定を行うことが壊死性ミオパチー(immune-mediated necrotizing myopathy:iNM)の早期診断・治療に重要である.
","ja":"症例は60歳代,男性.全身倦怠感,四肢脱力を主訴に受診.筋炎としステロイド単独で治療を開始したが,反応性は乏しく,筋病理・抗体検査にて抗SRP抗体陽性壊死性ミオパチー(anti-signal recognition particle immune-mediated necrotizing myopathy:anti-SRP iNM)と診断し,免疫グロブリン大量静注療法,免疫抑制薬を併用したところ,症状の改善を得た.積極的に自己抗体の測定を行うことが壊死性ミオパチー(immune-mediated necrotizing myopathy:iNM)の早期診断・治療に重要である.
"},"publication_date":"2016-08","publication_name":{"en":"The Journal of the Japanese Society of Internal Medicine","ja":"日本内科学会雑誌"},"volume":"Vol.105","number":"No.8","starting_page":"1443","ending_page":"1450","languages":["jpn"],"referee":true,"identifiers":{"doi":["10.2169/naika.105.1443"],"issn":["1883-2083"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/27182963","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=316145","label":"url"}],"paper_title":{"en":"Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings With Autosomal Recessive Spinocerebellar Ataxia Type 16.","ja":"Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings With Autosomal Recessive Spinocerebellar Ataxia Type 16."},"authors":{"en":[{"name":"Kawarai Toshitaka"},{"name":"Miyamoto Ryosuke"},{"name":"Shimatani Yoshimitsu"},{"name":"Orlacchio Antonio"},{"name":"Kaji Ryuji"}],"ja":[{"name":"瓦井 俊孝"},{"name":"宮本 亮介"},{"name":"島谷 佳光"},{"name":"Orlacchio Antonio"},{"name":"梶 龍兒"}]},"publication_date":"2016-07-01","publication_name":{"en":"JAMA Neurology","ja":"JAMA Neurology"},"volume":"Vol.73","number":"No.7","starting_page":"888","ending_page":"890","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1001/jamaneurol.2016.0647"],"issn":["2168-6157"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/27538610","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84978114190&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=328499","label":"url"}],"paper_title":{"en":"Imaging-based differential diagnosis between multiple system atrophy and Parkinson's disease.","ja":"Imaging-based differential diagnosis between multiple system atrophy and Parkinson's disease."},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Abe Takashi"},{"name":"Murakami Nagahisa"},{"name":"Miyazaki Yoshimichi"},{"name":"Izumi Yuishin"},{"name":"Harada Masafumi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"佐光 亘"},{"name":"阿部 考志"},{"name":"Murakami Nagahisa"},{"name":"宮﨑 由道"},{"name":"和泉 唯信"},{"name":"原田 雅史"},{"name":"梶 龍兒"}]},"description":{"en":"There are many tools for differentiating between multiple system atrophy with predominant parkinsonian features (MSA-P) and Parkinson's disease (PD). These include middle cerebellar peduncle (MCP) width, apparent diffusion coefficient (ADC) value of the putamen and cerebellum, and (123)I-metaiodobenzylguanidine (MIBG) myocardial scintigraphy images. We aimed to directly compare the above-mentioned methods, and to determine the optimal tool for differential diagnosis. Eleven patients with MSA-P and 36 patients with PD were enrolled. Of these, 7 patients with MSA-P and 14 patients with PD were chosen as background-matched subjects. We measured MCP width, ADC value of the putamen and cerebellum, and MIBG myocardial scintigraphy images. Area under curve (AUC) of receiver operating characteristic (ROC) was assessed to compare the above-mentioned methods. MCP width and ADC value of the putamen may be helpful for differentiating between MSA-P and PD relative to other methods in background-matched patients (MCP, AUC=0.95; putamen ADC, AUC=0.88; cerebellar ADC, AUC=0.70; MIBG, AUC=0.78). Similar AUCs were seen in all patients with different backgrounds. Our findings suggested that MCP width and ADC value of the putamen could be superior to ADC value of the cerebellum and MIBG uptake for differentiating between MSA-P and PD.","ja":"There are many tools for differentiating between multiple system atrophy with predominant parkinsonian features (MSA-P) and Parkinson's disease (PD). These include middle cerebellar peduncle (MCP) width, apparent diffusion coefficient (ADC) value of the putamen and cerebellum, and (123)I-metaiodobenzylguanidine (MIBG) myocardial scintigraphy images. We aimed to directly compare the above-mentioned methods, and to determine the optimal tool for differential diagnosis. Eleven patients with MSA-P and 36 patients with PD were enrolled. Of these, 7 patients with MSA-P and 14 patients with PD were chosen as background-matched subjects. We measured MCP width, ADC value of the putamen and cerebellum, and MIBG myocardial scintigraphy images. Area under curve (AUC) of receiver operating characteristic (ROC) was assessed to compare the above-mentioned methods. MCP width and ADC value of the putamen may be helpful for differentiating between MSA-P and PD relative to other methods in background-matched patients (MCP, AUC=0.95; putamen ADC, AUC=0.88; cerebellar ADC, AUC=0.70; MIBG, AUC=0.78). Similar AUCs were seen in all patients with different backgrounds. Our findings suggested that MCP width and ADC value of the putamen could be superior to ADC value of the cerebellum and MIBG uptake for differentiating between MSA-P and PD."},"publication_date":"2016-06-29","publication_name":{"en":"Journal of the Neurological Sciences","ja":"Journal of the Neurological Sciences"},"volume":"Vol.368","starting_page":"104","ending_page":"108","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.jns.2016.06.061"],"issn":["1878-5883"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"http://ci.nii.ac.jp/naid/130005163242/","label":"url"},{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/117547","label":"url"},{"@id":"https://cir.nii.ac.jp/crid/1390001204681086464/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=315716","label":"url"}],"paper_title":{"en":"A Case of Small Cell Lung Cancer with Diverse Neurological Symptoms due to Paraneoplastic Neurological Syndrome","ja":"多彩な神経症状を呈した小細胞肺癌に伴う傍腫瘍性神経症候群の1例"},"authors":{"en":[{"name":"山子 泰斗"},{"name":"Hanibuchi Masaki"},{"name":"Ogino Hirokazu"},{"name":"村上 永尚"},{"name":"Kaji Ryuji"},{"name":"Nishioka Yasuhiko"}],"ja":[{"name":"山子 泰斗"},{"name":"埴淵 昌毅"},{"name":"荻野 広和"},{"name":"村上 永尚"},{"name":"梶 龍兒"},{"name":"西岡 安彦"}]},"description":{"en":"Background. Paraneoplastic neurological syndrome is a neurological disorder associated with various malignancies and is considered to be caused by autoimmune mechanisms, but not by symptoms due to tumor progression itself. Small cell lung cancer is the most common type of malignancy accompanied with paraneoplastic neurological syndrome. Case. A 77-year-old male was referred to our hospital for further examination of general fatigue, gait disturbance and dysuria. On admission, diverse neurological symptoms, such as dysarthria, dysphagia, motor and sensory disturbance in lower extremities and autonomic dysregulation, were observed. Further examination yielded the diagnosis of Lambert-Eaton myasthenic syndrome with positive results for anti-amphiphysin and anti-ganglioside antibodies. Swelling of the mediastinal lymph nodes and elevated ProGRP were detected, and a definitive diagnosis of small cell lung cancer (cTXN2M1b: Stage IV) was made. As the administration of intravenous immunoglobulin failed to ameliorate his neurological symptoms and general condition (PS 4), we determined that there were no indications for chemotherapy. He was subsequently transferred to a palliative care hospital and died nearly one year after the development of his initial symptoms. Conclusion. We experienced a case of small cell lung cancer with diverse neurological symptoms due to the presence of paraneoplastic neurological syndrome.","ja":"背景.傍腫瘍性神経症候群は担癌患者に生じる神経障害であり,腫瘍の転移や浸潤・圧排,代謝異常や栄養障害によるものではなく,自己免疫学的機序による神経系の障害により生じる.傍腫瘍性神経症候群を合併する腫瘍は小細胞肺癌が最も多いとされている.症例.77歳男性.従来自立した生活を送っていたがX年10月頃より倦怠感が出現した.その後歩行障害が進行し排尿障害も出現したため,X+1年5月中旬に当院紹介となった.構音・嚥下障害や両下肢の運動・感覚障害,自律神経失調など多彩な神経症状を認め,精査によりLambert-Eaton症候群と診断された.自己抗体検査では,抗amphiphysin抗体,抗ガングリオシド(GM1,GT1b)抗体が陽性であった.精査にて小細胞肺癌cTXN2M1b(Stage IV)と診断した.PS 4のため化学療法の適応はないと判断した.免疫グロブリン大量療法を施行するも神経所見は改善しなかった.緩和医療目的に近医に転院し,X+1年10月下旬に死亡した.結論.複数の自己抗体が検出され多彩な神経症状を呈した小細胞肺癌に伴う傍腫瘍性神経症候群の1例を経験した."},"publication_date":"2016-06-20","publication_name":{"en":"Japanese Journal of Lung Cancer","ja":"肺癌"},"volume":"Vol.56","number":"No.3","starting_page":"199","ending_page":"204","languages":["jpn"],"referee":true,"identifiers":{"doi":["10.2482/haigan.56.199"],"issn":["1348-9992"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/27242385","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84973577883&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=328495","label":"url"}],"paper_title":{"en":"Mystery Case: Parkinsonism in a diabetic uremic patient.","ja":"Mystery Case: Parkinsonism in a diabetic uremic patient."},"authors":{"en":[{"name":"Osaki Yusuke"},{"name":"Fujita Koji"},{"name":"Abe Takashi"},{"name":"Harada Masafumi"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Osaki Yusuke"},{"name":"藤田 浩司"},{"name":"阿部 考志"},{"name":"原田 雅史"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"publication_date":"2016-06-01","publication_name":{"en":"Neurology","ja":"Neurology"},"volume":"Vol.86","number":"No.22","starting_page":"e225","ending_page":"7","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1212/WNL.0000000000002713"],"issn":["1526-632X"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/27154191","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=311368","label":"url"}],"paper_title":{"en":"MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2","ja":"MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2"},"authors":{"en":[{"name":"Kawarai Toshitaka"},{"name":"Yamasaki Kanto"},{"name":"Mori Atsuko"},{"name":"Takamatsu Naoko"},{"name":"Osaki Yusuke"},{"name":"Banzrai Chimeglkham"},{"name":"Banzrai Chimeglkham"},{"name":"Miyamoto Ryosuke"},{"name":"Oki Ryosuke"},{"name":"Pedace Lucia"},{"name":"Orlacchio Antonio"},{"name":"Nodera Hiroyuki"},{"name":"Hashiguchi Akihiro"},{"name":"Higuchi Yujiro"},{"name":"Takashima Hiroshi"},{"name":"Nishida Yoshihiko"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"瓦井 俊孝"},{"name":"山崎 寛門"},{"name":"森 敦子"},{"name":"高松 直子"},{"name":"大崎 裕亮"},{"name":"Chimeglkham Banzrai"},{"name":"Banzrai Chimeglkham"},{"name":"宮本 亮介"},{"name":"沖 亮介"},{"name":"Lucia Pedace"},{"name":"Antonio Orlacchio"},{"name":"野寺 裕之"},{"name":"橋口 昭大"},{"name":"樋口 雄二郎"},{"name":"高嶋 博"},{"name":"西田 善彦"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"publication_date":"2016-06","publication_name":{"en":"Journal of Neurology, Neurosurgery, and Psychiatry","ja":"Journal of Neurology, Neurosurgery, and Psychiatry"},"languages":["eng"],"referee":true,"identifiers":{"doi":["10.1136/jnnp-2015-312646"],"issn":["1468-330X"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/27084214","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84960442703&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=310566","label":"url"}],"paper_title":{"en":"Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis","ja":"Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis"},"authors":{"en":[{"name":"Seiji Kaji"},{"name":"Kawarai Toshitaka"},{"name":"Ryosuke Miyamoto"},{"name":"Nodera Hiroyuki"},{"name":"Lucia Pedace"},{"name":"Antonio Orlacchio"},{"name":"Izumi Yuishin"},{"name":"Ryosuke Takahashi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Seiji Kaji"},{"name":"瓦井 俊孝"},{"name":"宮本 亮介"},{"name":"野寺 裕之"},{"name":"Lucia Pedace"},{"name":"Antonio Orlacchio"},{"name":"和泉 唯信"},{"name":"高橋 良輔"},{"name":"梶 龍兒"}]},"description":{"en":"Pathogenic mutations in the KIF5A-SPG10 gene, encoding the kinesin HC5A, can be associated with autosomal dominant hereditary spastic paraplegia (ADHSP). It accounts for about 10% of the complicated forms of ADHSP. Peripheral neuropathy, distal upper limb amyotrophy, and cognitive decline are the most common additional clinical features. We examined a 66-year-old Japanese woman manifesting gait disturbance and spastic dysarthria for 6years with positive family history. She showed evidence of upper and lower motor neuron involvement and fasciculations, thus mimicking amyotrophic lateral sclerosis (ALS). Genetic analysis revealed a heterozygous variant in KIF5A (c.484C>T, p.Arg162Trp) in 2 symptomatic members. The mutation was also identified in 4 asymptomatic members, including 2 elderly members aged over 78years. Electromyography in the 2 symptomatic members revealed evidence of lower motor neuron involvement and fasciculation potentials in distal muscles. This report describes the first known Asian family with a KIF5A mutation and broadens the clinical and electrophysiological spectrum associated with KIF5A-SPG10 mutations. Given that our cases showed pseudobulbar palsy, fasciculation and altered penetrance, KIF5A-SPG10 might well be considered as a differential diagnosis of sporadic ALS.","ja":"Pathogenic mutations in the KIF5A-SPG10 gene, encoding the kinesin HC5A, can be associated with autosomal dominant hereditary spastic paraplegia (ADHSP). It accounts for about 10% of the complicated forms of ADHSP. Peripheral neuropathy, distal upper limb amyotrophy, and cognitive decline are the most common additional clinical features. We examined a 66-year-old Japanese woman manifesting gait disturbance and spastic dysarthria for 6years with positive family history. She showed evidence of upper and lower motor neuron involvement and fasciculations, thus mimicking amyotrophic lateral sclerosis (ALS). Genetic analysis revealed a heterozygous variant in KIF5A (c.484C>T, p.Arg162Trp) in 2 symptomatic members. The mutation was also identified in 4 asymptomatic members, including 2 elderly members aged over 78years. Electromyography in the 2 symptomatic members revealed evidence of lower motor neuron involvement and fasciculation potentials in distal muscles. This report describes the first known Asian family with a KIF5A mutation and broadens the clinical and electrophysiological spectrum associated with KIF5A-SPG10 mutations. Given that our cases showed pseudobulbar palsy, fasciculation and altered penetrance, KIF5A-SPG10 might well be considered as a differential diagnosis of sporadic ALS."},"publication_date":"2016-03-02","publication_name":{"en":"Journal of the Neurological Sciences","ja":"Journal of the Neurological Sciences"},"volume":"Vol.364","starting_page":"45","ending_page":"49","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.jns.2016.03.001"],"issn":["1878-5883"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/109698","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/26909041","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84962917589&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=310565","label":"url"}],"paper_title":{"en":"Impaired Axonal Na(+) Current by Hindlimb Unloading: Implication for Disuse Neuromuscular Atrophy.","ja":"Impaired Axonal Na(+) Current by Hindlimb Unloading: Implication for Disuse Neuromuscular Atrophy."},"authors":{"en":[{"name":"Banzrai Chimeglkham"},{"name":"Nodera Hiroyuki"},{"name":"Kawarai Toshitaka"},{"name":"Higashi Saki"},{"name":"Okada Ryo"},{"name":"Mori Atsuko"},{"name":"Shimatani Yoshimitsu"},{"name":"Osaki Yusuke"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Banzrai Chimeglkham"},{"name":"野寺 裕之"},{"name":"瓦井 俊孝"},{"name":"Higashi Saki"},{"name":"Okada Ryo"},{"name":"Mori Atsuko"},{"name":"島谷 佳光"},{"name":"Osaki Yusuke"},{"name":"梶 龍兒"}]},"description":{"en":"This study aimed to characterize the excitability changes in peripheral motor axons caused by hindlimb unloading (HLU), which is a model of disuse neuromuscular atrophy. HLU was performed in normal 8-week-old male mice by fixing the proximal tail by a clip connected to the top of the animal's cage for 3 weeks. Axonal excitability studies were performed by stimulating the sciatic nerve at the ankle and recording the compound muscle action potential (CMAP) from the foot. The amplitudes of the motor responses of the unloading group were 51% of the control amplitudes [2.2 ± 1.3 mV (HLU) vs. 4.3 ± 1.2 mV (Control), P = 0.03]. Multiple axonal excitability analysis showed that the unloading group had a smaller strength-duration time constant (SDTC) and late subexcitability (recovery cycle) than the controls [0.075 ± 0.01 (HLU) vs. 0.12 ± 0.01 (Control), P < 0.01; 5.4 ± 1.0 (HLU) vs. 10.0 ± 1.3 % (Control), P = 0.01, respectively]. Three weeks after releasing from HLU, the SDTC became comparable to the control range. Using a modeling study, the observed differences in the waveforms could be explained by reduced persistent Na(+) currents along with parameters related to current leakage. Quantification of RNA of a SCA1A gene coding a voltage-gated Na(+) channel tended to be decreased in the sciatic nerve in HLU. The present study suggested that axonal ion currents are altered in vivo by HLU. It is still undetermined whether the dysfunctional axonal ion currents have any pathogenicity on neuromuscular atrophy or are the results of neural plasticity by atrophy.","ja":"This study aimed to characterize the excitability changes in peripheral motor axons caused by hindlimb unloading (HLU), which is a model of disuse neuromuscular atrophy. HLU was performed in normal 8-week-old male mice by fixing the proximal tail by a clip connected to the top of the animal's cage for 3 weeks. Axonal excitability studies were performed by stimulating the sciatic nerve at the ankle and recording the compound muscle action potential (CMAP) from the foot. The amplitudes of the motor responses of the unloading group were 51% of the control amplitudes [2.2 ± 1.3 mV (HLU) vs. 4.3 ± 1.2 mV (Control), P = 0.03]. Multiple axonal excitability analysis showed that the unloading group had a smaller strength-duration time constant (SDTC) and late subexcitability (recovery cycle) than the controls [0.075 ± 0.01 (HLU) vs. 0.12 ± 0.01 (Control), P < 0.01; 5.4 ± 1.0 (HLU) vs. 10.0 ± 1.3 % (Control), P = 0.01, respectively]. Three weeks after releasing from HLU, the SDTC became comparable to the control range. Using a modeling study, the observed differences in the waveforms could be explained by reduced persistent Na(+) currents along with parameters related to current leakage. Quantification of RNA of a SCA1A gene coding a voltage-gated Na(+) channel tended to be decreased in the sciatic nerve in HLU. The present study suggested that axonal ion currents are altered in vivo by HLU. It is still undetermined whether the dysfunctional axonal ion currents have any pathogenicity on neuromuscular atrophy or are the results of neural plasticity by atrophy."},"publication_date":"2016-02-16","publication_name":{"en":"Frontiers in Physiology","ja":"Frontiers in Physiology"},"volume":"Vol.7","number":"No.364","starting_page":"45","ending_page":"49","languages":["eng"],"referee":true,"identifiers":{"doi":["10.3389/fphys.2016.00036"],"issn":["1664-042X"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/27000228","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=310558","label":"url"}],"paper_title":{"en":"The difference of apparent diffusion coefficient in the middle cerebellar peduncle among parkinsonian syndromes: Evidence from a meta-analysis.","ja":"The difference of apparent diffusion coefficient in the middle cerebellar peduncle among parkinsonian syndromes: Evidence from a meta-analysis."},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Murakami Nagahisa"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"佐光 亘"},{"name":"Murakami Nagahisa"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"The measurement of middle cerebellar peduncle (MCP) width allows for differential diagnosis between Parkinson's disease (PD) and multiple system atrophy with predominant parkinsonian features (MSA-P). However, it remains controversial whether apparent diffusion coefficient (ADC) value in the MCP of MSA-P is elevated or not. In the present study, we aimed to assess the usefulness of ADC value in the MCP for differential diagnosis between PD and MSA-P. An on-line literature search yielded 5 eligible studies. We expressed between-group difference of ADC value as the standardized mean difference (SMD). The proportion of variation due to heterogeneity was computed and expressed as I(2). ADC in the MCP of MSA-P was significantly increased compared with PD with heterogeneous studies (P=0.0007, I(2)=81%). A meta-regression analysis of MSA-P was conducted for \"UPDRS III\", and revealed a significant correlation between UPDRS III and SMD (P=0.01). Our meta-regression analysis has clarified the contribution of severity of MSA-P to heterogeneity of the included studies for ADC in the MCP. This finding raised the possibility that ADC in the MCP depended on severity of MSA-P, and less severe patients with MSA-P should be mainly enrolled in future study to assess the ability for differential diagnostic tool.","ja":"The measurement of middle cerebellar peduncle (MCP) width allows for differential diagnosis between Parkinson's disease (PD) and multiple system atrophy with predominant parkinsonian features (MSA-P). However, it remains controversial whether apparent diffusion coefficient (ADC) value in the MCP of MSA-P is elevated or not. In the present study, we aimed to assess the usefulness of ADC value in the MCP for differential diagnosis between PD and MSA-P. An on-line literature search yielded 5 eligible studies. We expressed between-group difference of ADC value as the standardized mean difference (SMD). The proportion of variation due to heterogeneity was computed and expressed as I(2). ADC in the MCP of MSA-P was significantly increased compared with PD with heterogeneous studies (P=0.0007, I(2)=81%). A meta-regression analysis of MSA-P was conducted for \"UPDRS III\", and revealed a significant correlation between UPDRS III and SMD (P=0.01). Our meta-regression analysis has clarified the contribution of severity of MSA-P to heterogeneity of the included studies for ADC in the MCP. This finding raised the possibility that ADC in the MCP depended on severity of MSA-P, and less severe patients with MSA-P should be mainly enrolled in future study to assess the ability for differential diagnostic tool."},"publication_date":"2016-02-16","publication_name":{"en":"Journal of the Neurological Sciences","ja":"Journal of the Neurological Sciences"},"volume":"Vol.363","starting_page":"90","ending_page":"94","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.jns.2016.02.034"],"issn":["1878-5883"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/110923","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=310575","label":"url"}],"paper_title":{"en":"Late-onset myasthenia gravis is predisposed to become generalized in the elderly","ja":"Late-onset myasthenia gravis is predisposed to become generalized in the elderly"},"authors":{"en":[{"name":"Sakai Waka"},{"name":"Matsui Naoko"},{"name":"Ishida Mitsuyo"},{"name":"Furukawa Takahiro"},{"name":"Miyazaki Yoshimichi"},{"name":"Fujita Koji"},{"name":"Miyamoto Ryosuke"},{"name":"Yamamoto Nobuaki"},{"name":"Sako Wataru"},{"name":"Sato Kenta"},{"name":"Kondo Kazuya"},{"name":"Nishida Yoshihiko"},{"name":"Mitsui Takao"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"酒井 和香"},{"name":"松井 尚子"},{"name":"Ishida Mitsuyo"},{"name":"古川 貴大"},{"name":"宮﨑 由道"},{"name":"藤田 浩司"},{"name":"宮本 亮介"},{"name":"山本 伸昭"},{"name":"佐光 亘"},{"name":"佐藤 健太"},{"name":"近藤 和也"},{"name":"西田 善彦"},{"name":"三ツ井 貴夫"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"publication_date":"2016-02-11","publication_name":{"en":"eNeurologicalSci","ja":"eNeurologicalSci"},"volume":"Vol.2","starting_page":"17","ending_page":"20","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.ensci.2016.02.004"],"issn":["2405-6502"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/26809951","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84955300415&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=310557","label":"url"}],"paper_title":{"en":"Fractional anisotropy in the supplementary motor area correlates with disease duration and severity of amyotrophic lateral sclerosis.","ja":"Fractional anisotropy in the supplementary motor area correlates with disease duration and severity of amyotrophic lateral sclerosis."},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Abe Takashi"},{"name":"Izumi Yuishin"},{"name":"Harada Masafumi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"佐光 亘"},{"name":"阿部 考志"},{"name":"和泉 唯信"},{"name":"原田 雅史"},{"name":"梶 龍兒"}]},"description":{"en":"Amyotrophic lateral sclerosis (ALS) is progressive and fatal neurodegenerative disorder with upper and lower motor neuron signs. There are no biomarkers to track disease progression. To address this issue, we investigated regions in which fractional anisotropy (FA) values derived from diffusion weighted images correlated with both disease severity and duration in ALS patients. Fourteen patients with ALS were enrolled in this study. Voxel-based analysis revealed volume of interests (VOIs) showing significant correlation. Finally, Spearman rank correlation coefficient was assessed between FA value in each VOI and disease severity or duration. In the VOI of left supplementary motor area (SMA), FA value significantly correlated with disease severity and duration both (disease severity, rho = 0.59, p = 0.025; disease duration, rho = -0.69, p = 0.006). The present finding suggested the possibility that the abnormality in motor-related region including SMA could be a candidate for a biomarker to track disease progression.","ja":"Amyotrophic lateral sclerosis (ALS) is progressive and fatal neurodegenerative disorder with upper and lower motor neuron signs. There are no biomarkers to track disease progression. To address this issue, we investigated regions in which fractional anisotropy (FA) values derived from diffusion weighted images correlated with both disease severity and duration in ALS patients. Fourteen patients with ALS were enrolled in this study. Voxel-based analysis revealed volume of interests (VOIs) showing significant correlation. Finally, Spearman rank correlation coefficient was assessed between FA value in each VOI and disease severity or duration. In the VOI of left supplementary motor area (SMA), FA value significantly correlated with disease severity and duration both (disease severity, rho = 0.59, p = 0.025; disease duration, rho = -0.69, p = 0.006). The present finding suggested the possibility that the abnormality in motor-related region including SMA could be a candidate for a biomarker to track disease progression."},"publication_date":"2016-01-25","publication_name":{"en":"Neurological Sciences","ja":"Neurological Sciences"},"volume":"Vol.37","number":"No.4","starting_page":"573","ending_page":"577","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1007/s10072-016-2487-z"],"issn":["1590-3478"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/26773724","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84989259948&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=307137","label":"url"}],"paper_title":{"en":"Extranodal NK/T-cell lymphoma, nasal type, manifesting as rapidly progressive dementia without any mass or enhancing brain lesion.","ja":"Extranodal NK/T-cell lymphoma, nasal type, manifesting as rapidly progressive dementia without any mass or enhancing brain lesion."},"authors":{"en":[{"name":"Shimatani Yoshimitsu"},{"name":"Nakano Yuta"},{"name":"Tsuyama Naoko"},{"name":"Murayama Shigeo"},{"name":"Oki Ryosuke"},{"name":"Miyamoto Ryosuke"},{"name":"Murakami Nagahisa"},{"name":"Fujita Koji"},{"name":"Watanabe Syunsuke"},{"name":"Uehara Hisanori"},{"name":"Abe Takashi"},{"name":"Nodera Hiroyuki"},{"name":"Kawarai Toshitaka"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"島谷 佳光"},{"name":"Nakano Yuta"},{"name":"Tsuyama Naoko"},{"name":"Murayama Shigeo"},{"name":"Oki Ryosuke"},{"name":"Miyamoto Ryosuke"},{"name":"Murakami Nagahisa"},{"name":"藤田 浩司"},{"name":"Watanabe Syunsuke"},{"name":"Uehara Hisanori"},{"name":"阿部 考志"},{"name":"野寺 裕之"},{"name":"瓦井 俊孝"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"Among the many potential etiologies for rapidly progressive dementia (RPD), primary central nervous system extranodal NK/T-cell lymphoma, nasal-type (ENKL) is a rare entity. We present the first reported case of autopsy-proven RPD due to ENKL without any mass or enhancing lesion of the brain. A 54-year-old immunocompetent man presented with RPD, myoclonus and ataxia. The mini-mental state examination (MMSE) score was 22/30. His brain MRI revealed progressive brain atrophy without gadolinium enhancement or mass lesion. Five months after the initial evaluation, cognitive impairment further worsened with an MMSE score of 3/30. At the advanced stage, lumbar MRI showed swollen cauda equina with gadolinium enhancement. The number of Epstein-Barr virus (EBV) DNA in cerebrospinal fluid had gradually increased. Twelve months after onset, the patient died of respiratory failure. Pathological findings revealed that lymphoma cells had diffusely invaded the meninges, parenchyma of the brain, spinal cord and cauda equina. Cells were positive for CD3, CD56 and EBV-encoded small RNAs and negative for CD20. No evidence of malignancy was identified in the visceral organs. This report indicates that ENKL should be recognized as one of the rare causes of RPD. Early testing for EBV-DNA in cerebrospinal fluid and imaging of cauda equina would be useful diagnostic tools.","ja":"Among the many potential etiologies for rapidly progressive dementia (RPD), primary central nervous system extranodal NK/T-cell lymphoma, nasal-type (ENKL) is a rare entity. We present the first reported case of autopsy-proven RPD due to ENKL without any mass or enhancing lesion of the brain. A 54-year-old immunocompetent man presented with RPD, myoclonus and ataxia. The mini-mental state examination (MMSE) score was 22/30. His brain MRI revealed progressive brain atrophy without gadolinium enhancement or mass lesion. Five months after the initial evaluation, cognitive impairment further worsened with an MMSE score of 3/30. At the advanced stage, lumbar MRI showed swollen cauda equina with gadolinium enhancement. The number of Epstein-Barr virus (EBV) DNA in cerebrospinal fluid had gradually increased. Twelve months after onset, the patient died of respiratory failure. Pathological findings revealed that lymphoma cells had diffusely invaded the meninges, parenchyma of the brain, spinal cord and cauda equina. Cells were positive for CD3, CD56 and EBV-encoded small RNAs and negative for CD20. No evidence of malignancy was identified in the visceral organs. This report indicates that ENKL should be recognized as one of the rare causes of RPD. Early testing for EBV-DNA in cerebrospinal fluid and imaging of cauda equina would be useful diagnostic tools."},"publication_date":"2016-01-15","publication_name":{"en":"Neuropathology","ja":"Neuropathology"},"volume":"Vol.36","number":"No.5","starting_page":"456","ending_page":"463","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1111/neup.12285"],"issn":["1440-1789"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/26765768","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84952673779&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=310556","label":"url"}],"paper_title":{"en":"The ratio of N-acetyl aspartate to glutamate correlates with disease duration of amyotrophic lateral sclerosis","ja":"The ratio of N-acetyl aspartate to glutamate correlates with disease duration of amyotrophic lateral sclerosis"},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Abe Takashi"},{"name":"Izumi Yuishin"},{"name":"Harada Masafumi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"佐光 亘"},{"name":"阿部 考志"},{"name":"和泉 唯信"},{"name":"原田 雅史"},{"name":"梶 龍兒"}]},"description":{"en":"Glutamate (Glu)-induced excitotoxicity has been implicated in the neuronal loss of amyotrophic lateral sclerosis. To test the hypothesis that Glu in the primary motor cortex contributes to disease severity and/or duration, the Glu level was investigated using MR spectroscopy. Seventeen patients with amyotrophic lateral sclerosis were diagnosed according to the El Escorial criteria for suspected, possible, probable or definite amyotrophic lateral sclerosis, and enrolled in this cross-sectional study. We measured metabolite concentrations, including N-acetyl aspartate (NAA), creatine, choline, inositol, Glu and glutamine, and performed partial correlation between each metabolite concentration or NAA/Glu ratio and disease severity or duration using age as a covariate. Considering our hypothesis that Glu is associated with neuronal cell death in amyotrophic lateral sclerosis, we investigated the ratio of NAA to Glu, and found a significant correlation between NAA/Glu and disease duration (r=-0.574, p=0.02). The \"suspected\" amyotrophic lateral sclerosis patients showed the same tendency as possible, probable and definite amyotrophic lateral sclerosis patients in regard to correlation of NAA/Glu ratio with disease duration. The other metabolites showed no significant correlation. Our findings suggested that glutamatergic neurons are less vulnerable compared to other neurons and this may be because inhibitory receptors are mainly located presynaptically, which supports the notion of Glu-induced excitotoxicity.","ja":"Glutamate (Glu)-induced excitotoxicity has been implicated in the neuronal loss of amyotrophic lateral sclerosis. To test the hypothesis that Glu in the primary motor cortex contributes to disease severity and/or duration, the Glu level was investigated using MR spectroscopy. Seventeen patients with amyotrophic lateral sclerosis were diagnosed according to the El Escorial criteria for suspected, possible, probable or definite amyotrophic lateral sclerosis, and enrolled in this cross-sectional study. We measured metabolite concentrations, including N-acetyl aspartate (NAA), creatine, choline, inositol, Glu and glutamine, and performed partial correlation between each metabolite concentration or NAA/Glu ratio and disease severity or duration using age as a covariate. Considering our hypothesis that Glu is associated with neuronal cell death in amyotrophic lateral sclerosis, we investigated the ratio of NAA to Glu, and found a significant correlation between NAA/Glu and disease duration (r=-0.574, p=0.02). The \"suspected\" amyotrophic lateral sclerosis patients showed the same tendency as possible, probable and definite amyotrophic lateral sclerosis patients in regard to correlation of NAA/Glu ratio with disease duration. The other metabolites showed no significant correlation. Our findings suggested that glutamatergic neurons are less vulnerable compared to other neurons and this may be because inhibitory receptors are mainly located presynaptically, which supports the notion of Glu-induced excitotoxicity."},"publication_date":"2016-01-04","publication_name":{"en":"Journal of Clinical Neuroscience","ja":"Journal of Clinical Neuroscience"},"volume":"Vol.27","starting_page":"110","ending_page":"113","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.jocn.2015.08.044"],"issn":["1532-2653"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=328816","label":"url"}],"paper_title":{"en":"Multimodal analysis based on high-field magnetic resonance and motor evoked potentials: A case report of multiple sclerosis","ja":"Multimodal analysis based on high-field magnetic resonance and motor evoked potentials: A case report of multiple sclerosis"},"authors":{"en":[{"name":"Nakane Shunya"},{"name":"Furutani Kaori"},{"name":"Harada Masafumi"},{"name":"Urushihara Ryo"},{"name":"Matsui Naoko"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"中根 俊成"},{"name":"古谷 かおり"},{"name":"原田 雅史"},{"name":"Urushihara Ryo"},{"name":"松井 尚子"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"publication_date":"2016-01","publication_name":{"en":"Clinical & Experimental Neuroimmunology","ja":"Clinical & Experimental Neuroimmunology"},"volume":"Vol.8","number":"No.1","starting_page":"43","ending_page":"46","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1111/cen3.12352"],"issn":["1759-1961"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84961266632&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=328815","label":"url"}],"paper_title":{"en":"Ocular myasthenia gravis with anti-muscle-specific tyrosine kinase antibodies: Two new cases and a systematic literature review","ja":"Ocular myasthenia gravis with anti-muscle-specific tyrosine kinase antibodies: Two new cases and a systematic literature review"},"authors":{"en":[{"name":"Kamata Masaki"},{"name":"Nakane Shunya"},{"name":"Matsui Naoko"},{"name":"Higuchi Osamu"},{"name":"Waka Sakai"},{"name":"Fujita Koji"},{"name":"Izumi Yuishin"},{"name":"Matsuo Hidenori"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Kamata Masaki"},{"name":"中根 俊成"},{"name":"松井 尚子"},{"name":"Higuchi Osamu"},{"name":"Waka Sakai"},{"name":"藤田 浩司"},{"name":"和泉 唯信"},{"name":"Matsuo Hidenori"},{"name":"梶 龍兒"}]},"publication_date":"2016-01","publication_name":{"en":"Clinical & Experimental Neuroimmunology","ja":"Clinical & Experimental Neuroimmunology"},"volume":"Vol.7","number":"No.2","starting_page":"168","ending_page":"173","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1111/cen3.12296"],"issn":["1759-1961"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=327329","label":"url"}],"paper_title":{"en":"ASL1","ja":"ASL1"},"authors":{"en":[{"name":"Yamamoto Nobuaki"},{"name":"Izumi Yuishin"},{"name":"Yamamoto Y"},{"name":"垂髪 祐樹"},{"name":"Kaji Ryuji"},{"name":"Satomi Junichiro"},{"name":"Nagahiro Shinji"}],"ja":[{"name":"山本 伸昭"},{"name":"和泉 唯信"},{"name":"山本 雄貴"},{"name":"垂髪 祐樹"},{"name":"梶 龍兒"},{"name":"里見 淳一郎"},{"name":"永廣 信治"}]},"publication_date":"2016","publication_name":{"en":"Clinical Neurology","ja":"臨床神経学"},"volume":"Vol.56","number":"No.3","starting_page":"225","ending_page":"225","languages":["jpn"],"referee":true,"identifiers":{"issn":["0009-918X"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/26616485","label":"url"},{"@id":"https://cir.nii.ac.jp/crid/1390282680013781248/","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84957620367&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=317774","label":"url"}],"paper_title":{"en":"An autopsy case of progressive generalized muscle atrophy over 14 years due to post-polio syndrome","ja":"約14年の経過でポストポリオ症候群が広範に進行した1剖検例"},"authors":{"en":[{"name":"Oki Ryosuke"},{"name":"Uchino Akiko"},{"name":"Izumi Yuishin"},{"name":"Ogawa Hirohisa"},{"name":"Murayama Shigeo"},{"name":"Kaji Ryuji"}],"ja":[{"name":"沖 良祐"},{"name":"内野 彰子"},{"name":"和泉 唯信"},{"name":"小川 博久"},{"name":"村山 繁雄"},{"name":"梶 龍兒"}]},"description":{"en":"We report the case of a 72-year-old man who had contracted acute paralytic poliomyelitis in his childhood. Thereafter, he had suffered from paresis involving the left lower limb, with no relapse or progression of the disease. He began noticing slowly progressive muscle weakness and atrophy in the upper and lower extremities in his 60s. At the age of 72, muscle weakness developed rapidly, and he demonstrated dyspnea on exertion and dysphagia. He died after about 14 years from the onset of muscle weakness symptoms. Autopsy findings demonstrated motoneuron loss and glial scars not only in the plaque-like lesions in the anterior horns, which were sequelae of old poliomyelitis, but also throughout the spine. No Bunina bodies, TDP-43, and ubiquitin inclusions were found. Post-polio syndrome is rarely fatal due to rapid progressive dyspnea and dysphagia. Thus, the pathological findings in the patient are considered to be related to the development of muscle weakness.","ja":"症例は死亡時74歳の男性である.小児期の急性灰白髄炎罹患後に左下肢麻痺が残存した.60歳頃より四肢筋力低下,72歳頃より呼吸機能障害・嚥下障害が進行し,発症約14年後に死亡した.神経病理学的には脊髄にポリオ後遺症と思われるplaque-like lesionのほか,脊髄全長にわたりグリオーシスを伴う前角細胞脱落を認めたが,Bunina小体やユビキチン・TDP43陽性封入体などamyotrophic lateral sclerosis(ALS)に特徴的とされる構造物は認めなかった.ポストポリオ症候群は稀に呼吸機能障害や嚥下障害が急速に進行して致死的となる場合があり,これらの病理所見はポストポリオ症候群による運動麻痺の進行と関連していると考えられた."},"publication_date":"2016","publication_name":{"en":"Clinical Neurology","ja":"臨床神経学"},"volume":"Vol.56","number":"No.1","starting_page":"12","ending_page":"16","languages":["jpn"],"referee":true,"identifiers":{"doi":["10.5692/clinicalneurol.cn-000761"],"issn":["0009-918X"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/26706399","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=315938","label":"url"}],"paper_title":{"en":"Intramuscular dissociation of echogenicity in the triceps surae characterizes sporadic inclusion body myositis","ja":"Intramuscular dissociation of echogenicity in the triceps surae characterizes sporadic inclusion body myositis"},"authors":{"en":[{"name":"Nodera Hiroyuki"},{"name":"Takamatsu Naoko"},{"name":"Matsui Naoko"},{"name":"Mori Atsuko"},{"name":"Terasawa Yuka"},{"name":"Shimatani Yoshimitsu"},{"name":"Osaki Yusuke"},{"name":"Maruyama Keiko"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"野寺 裕之"},{"name":"Takamatsu Naoko"},{"name":"松井 尚子"},{"name":"Mori Atsuko"},{"name":"寺澤 由佳"},{"name":"島谷 佳光"},{"name":"Osaki Yusuke"},{"name":"Maruyama Keiko"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"Differential diagnosis of sporadic inclusion body myositis (s-IBM) and polymyositis (PM)/dermatomyositis (DM) is difficult and can affect proper disease management. Detection of heterogeneous muscular involvement in s-IBM by muscle sonography could be a unique diagnostic feature. Sonography of the lower leg and forearm was performed in patients with s-IBM, PM/DM and control subjects (n = 11 each). Echo intensities (EIs) of the adjacent muscles [medial head of the gastrocnemius versus soleus and the flexor digitorum profundus (FDP) versus flexor carpi ulnaris (FCU)] were scored by three blinded raters. The mean EIs of these muscles were compared using computer-assisted histogram analysis. Both evaluation methods showed high echoic signals in the gastrocnemius of patients with s-IBM. EIs were significantly different between the gastrocnemius and soleus in patients with s-IBM, but not in those with DM/PM and the controls. In the forearm, although the EI of the FDP was higher in the s-IBM group than in the other groups, the EI differences between the FDP and FCU did not differ significantly between disease groups. The difference in area under the curves to differentiate between s-IBM and DM/PM was greatest between the gastrocnemius-soleus EIs (0.843; P = 0.006). High echoic signals in the medial gastrocnemius compared with those of the soleus are suggestive of s-IBM over PM/DM.","ja":"Differential diagnosis of sporadic inclusion body myositis (s-IBM) and polymyositis (PM)/dermatomyositis (DM) is difficult and can affect proper disease management. Detection of heterogeneous muscular involvement in s-IBM by muscle sonography could be a unique diagnostic feature. Sonography of the lower leg and forearm was performed in patients with s-IBM, PM/DM and control subjects (n = 11 each). Echo intensities (EIs) of the adjacent muscles [medial head of the gastrocnemius versus soleus and the flexor digitorum profundus (FDP) versus flexor carpi ulnaris (FCU)] were scored by three blinded raters. The mean EIs of these muscles were compared using computer-assisted histogram analysis. Both evaluation methods showed high echoic signals in the gastrocnemius of patients with s-IBM. EIs were significantly different between the gastrocnemius and soleus in patients with s-IBM, but not in those with DM/PM and the controls. In the forearm, although the EI of the FDP was higher in the s-IBM group than in the other groups, the EI differences between the FDP and FCU did not differ significantly between disease groups. The difference in area under the curves to differentiate between s-IBM and DM/PM was greatest between the gastrocnemius-soleus EIs (0.843; P = 0.006). High echoic signals in the medial gastrocnemius compared with those of the soleus are suggestive of s-IBM over PM/DM."},"publication_date":"2016","publication_name":{"en":"European Journal of Neurology","ja":"European Journal of Neurology"},"volume":"Vol.23","number":"No.3","starting_page":"588","ending_page":"596","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1111/ene.12899"],"issn":["1468-1331"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=305106","label":"url"}],"paper_title":{"en":"Nuclear factor kappa b is under the control of dopamine signaling in the mouse striatum","ja":"Nuclear factor kappa b is under the control of dopamine signaling in the mouse striatum"},"authors":{"en":[{"name":"Morigaki Ryoma"},{"name":"Miyamoto Ryosuke"},{"name":"Ohkita Shinya"},{"name":"Mizobuchi Yoshifumi"},{"name":"Mure Hideo"},{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"},{"name":"Goto Satoshi"}],"ja":[{"name":"森垣 龍馬"},{"name":"宮本 亮介"},{"name":"大北 真哉"},{"name":"溝渕 佳史"},{"name":"牟礼 英生"},{"name":"永廣 信治"},{"name":"梶 龍兒"},{"name":"後藤 惠"}]},"publication_date":"2016","publication_name":{"en":"Neurologia Medico-Chirurgica","ja":"Neurologia Medico-Chirurgica"},"volume":"Vol.55","starting_page":"305","ending_page":"305","languages":["eng"],"referee":true,"identifiers":{"issn":["0470-8105"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"http://onlinelibrary.wiley.com/doi/10.1002/mdc3.12280/abstract","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=307160","label":"url"}],"paper_title":{"en":"Treatment of Isolated Dystonia with Zolpidem","ja":"Treatment of Isolated Dystonia with Zolpidem"},"authors":{"en":[{"name":"Miyazaki Yoshimichi"},{"name":"Koizumi Hidetaka"},{"name":"Miyamoto Ryosuke"},{"name":"Kawarai Toshitaka"},{"name":"Kaji Ryuji"}],"ja":[{"name":"宮﨑 由道"},{"name":"小泉 英貴"},{"name":"宮本 亮介"},{"name":"瓦井 俊孝"},{"name":"梶 龍兒"}]},"publication_date":"2015-12-18","publication_name":{"en":"Movement Disorders Clinical Practice","ja":"Movement Disorders Clinical Practice"},"languages":["eng"],"referee":true,"identifiers":{"doi":["10.1002/mdc3.12280"],"issn":["2330-1619"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/26671103","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84949635529&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=306635","label":"url"}],"paper_title":{"en":"The susceptibility vessel sign containing two compositions on 3-tesla T2*-weighted image and single corticosubcortical infarct on diffusion-weighted image are associated with cardioembolic stroke","ja":"The susceptibility vessel sign containing two compositions on 3-tesla T2*-weighted image and single corticosubcortical infarct on diffusion-weighted image are associated with cardioembolic stroke"},"authors":{"en":[{"name":"Yamamoto Nobuaki"},{"name":"Satomi Junichiro"},{"name":"Yuki Yamamoto"},{"name":"Furukawa Takahiro"},{"name":"Tada Yoshiteru"},{"name":"Harada Masafumi"},{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"}],"ja":[{"name":"山本 伸昭"},{"name":"里見 淳一郎"},{"name":"山本 雄貴"},{"name":"古川 貴大"},{"name":"多田 恵曜"},{"name":"原田 雅史"},{"name":"永廣 信治"},{"name":"梶 龍兒"}]},"description":{"en":"Although accurate diagnosis of the ischemic stroke subtype is one of the most important factors for selection of therapeutic approach, it is sometimes difficult at the time of admission. We previously reported that susceptibility vessel sign (SVS) with two layers (termed two-layered SVS) on 3-tesla-T2*-weighted image (T2*-WI) might be useful to predict cardioembolic stroke in patients with cerebral major vessel occlusion. We studied about biomarkers on magnetic resonance imaging (MRI), including two-layered SVS for diagnosing cardioembolic stroke. We included 132 ischemic stroke patients within 24h from onset who suffered internal carotid artery or middle cerebral artery occlusion due to cardioembolic stroke (group CE) or large artery atherosclerosis (group LAA). We studied about biomarkers on MRI such as two-layered SVS and abnormal finding patterns of diffusion-weighted image (DWI) for diagnosis of cardioembolic stroke in addition to laboratory data, physiological examination, and clinical findings. In this study, 132 patients (72 men and 60 women, age 74.5 ± 12.1 years) were included. Of these, 63 (47.7%) were cardioembolic stroke. In univariate analysis, frequency of comorbid atrial fibrillation, presence of two-layered SVS on T2*-WI and that of single corticosubcortical infarct on DWI, intima-media thickness were significantly higher in group CE. In multivariate analysis, the presence of two-layered SVS and single corticosubcortical infarct were associated with cardioembolic stroke (odds ratio, two-layered SVS, 30.08, p<0.001; single corticosubcortical infarct, 15.78, p<0.001). Biomarkers associated with cardioembolic stroke may be two-layered SVS on T2*-WI and single corticosubcortical infarct on DWI.","ja":"Although accurate diagnosis of the ischemic stroke subtype is one of the most important factors for selection of therapeutic approach, it is sometimes difficult at the time of admission. We previously reported that susceptibility vessel sign (SVS) with two layers (termed two-layered SVS) on 3-tesla-T2*-weighted image (T2*-WI) might be useful to predict cardioembolic stroke in patients with cerebral major vessel occlusion. We studied about biomarkers on magnetic resonance imaging (MRI), including two-layered SVS for diagnosing cardioembolic stroke. We included 132 ischemic stroke patients within 24h from onset who suffered internal carotid artery or middle cerebral artery occlusion due to cardioembolic stroke (group CE) or large artery atherosclerosis (group LAA). We studied about biomarkers on MRI such as two-layered SVS and abnormal finding patterns of diffusion-weighted image (DWI) for diagnosis of cardioembolic stroke in addition to laboratory data, physiological examination, and clinical findings. In this study, 132 patients (72 men and 60 women, age 74.5 ± 12.1 years) were included. Of these, 63 (47.7%) were cardioembolic stroke. In univariate analysis, frequency of comorbid atrial fibrillation, presence of two-layered SVS on T2*-WI and that of single corticosubcortical infarct on DWI, intima-media thickness were significantly higher in group CE. In multivariate analysis, the presence of two-layered SVS and single corticosubcortical infarct were associated with cardioembolic stroke (odds ratio, two-layered SVS, 30.08, p<0.001; single corticosubcortical infarct, 15.78, p<0.001). Biomarkers associated with cardioembolic stroke may be two-layered SVS on T2*-WI and single corticosubcortical infarct on DWI."},"publication_date":"2015-12-15","publication_name":{"en":"Journal of the Neurological Sciences","ja":"Journal of the Neurological Sciences"},"volume":"Vol.359","number":"No.1-2","starting_page":"141","ending_page":"145","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.jns.2015.10.033"],"issn":["1878-5883"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/26387040","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84949727124&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=306629","label":"url"}],"paper_title":{"en":"Predictors of a favorable outcome after recanalization in patients with cerebral major vessel occlusion","ja":"Predictors of a favorable outcome after recanalization in patients with cerebral major vessel occlusion"},"authors":{"en":[{"name":"Yamamoto Nobuaki"},{"name":"Satomi Junichiro"},{"name":"Izumi Yuishin"},{"name":"Yuki Yamamoto"},{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"}],"ja":[{"name":"山本 伸昭"},{"name":"里見 淳一郎"},{"name":"和泉 唯信"},{"name":"山本 雄貴"},{"name":"永廣 信治"},{"name":"梶 龍兒"}]},"description":{"en":"Although tissue plasminogen activator and endovascular treatment were reported to be useful for recanalization in patients with major vessel occlusion (MVO), the outcome in some patients with recanalization was unfavorable. We could detect prolongation of the ipsilateral posterior cerebral artery (PCA) to the ischemic side on magnetic resonance angiography in some patients (ipsilateral-PCA sign). We investigated the predictors including radiological findings for a favorable outcome after successful recanalization. We included 76 patients with MVO of the anterior circulation and documented recanalization by treatment. We divided our patients into 2 groups: group F (modified Rankin scale [mRS] score = 0-2) and group UF (mRS score = 3-6). We compared biomarkers between the groups. National Institutes of Health Stroke Scale (NIHSS) score before treatment in group F (8.5) was lower than that in group UF (16.0; P <.001). Sensitivity of the ipsilateral-PCA sign was commonly associated with group F (67.5% versus 19.4%, P <.001), and specificity of the sign was 80.6%. Absence of infarcts in the anterior cerebral artery (ACA) territory and ACA occlusion were also associated with a favorable outcome. In multivariate analysis, the ipsilateral-PCA sign and NIHSS score (≤ 10) were independent predictors of favorable outcome (odds ratio = 9.92, 95% confidence interval [CI] 2.71-36.23, P = .001; and odds ratio = 9.15, 95% CI 2.44-34.36, P = .001, respectively) The ipsilateral-PCA sign and low NIHSS score (≤ 10) were predictors of a favorable outcome in patients with MVO and documented recanalization by treatments.","ja":"Although tissue plasminogen activator and endovascular treatment were reported to be useful for recanalization in patients with major vessel occlusion (MVO), the outcome in some patients with recanalization was unfavorable. We could detect prolongation of the ipsilateral posterior cerebral artery (PCA) to the ischemic side on magnetic resonance angiography in some patients (ipsilateral-PCA sign). We investigated the predictors including radiological findings for a favorable outcome after successful recanalization. We included 76 patients with MVO of the anterior circulation and documented recanalization by treatment. We divided our patients into 2 groups: group F (modified Rankin scale [mRS] score = 0-2) and group UF (mRS score = 3-6). We compared biomarkers between the groups. National Institutes of Health Stroke Scale (NIHSS) score before treatment in group F (8.5) was lower than that in group UF (16.0; P <.001). Sensitivity of the ipsilateral-PCA sign was commonly associated with group F (67.5% versus 19.4%, P <.001), and specificity of the sign was 80.6%. Absence of infarcts in the anterior cerebral artery (ACA) territory and ACA occlusion were also associated with a favorable outcome. In multivariate analysis, the ipsilateral-PCA sign and NIHSS score (≤ 10) were independent predictors of favorable outcome (odds ratio = 9.92, 95% confidence interval [CI] 2.71-36.23, P = .001; and odds ratio = 9.15, 95% CI 2.44-34.36, P = .001, respectively) The ipsilateral-PCA sign and low NIHSS score (≤ 10) were predictors of a favorable outcome in patients with MVO and documented recanalization by treatments."},"publication_date":"2015-12","publication_name":{"en":"Journal of Stroke & Cerebrovascular Diseases","ja":"Journal of Stroke & Cerebrovascular Diseases"},"volume":"Vol.24","number":"No.12","starting_page":"2793","ending_page":"2799","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.jstrokecerebrovasdis.2015.08.012"],"issn":["1532-8511"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/26671123","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=307136","label":"url"}],"paper_title":{"en":"Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation.","ja":"Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation."},"authors":{"en":[{"name":"Kawarai Toshitaka"},{"name":"Miyamoto Ryosuke"},{"name":"Mori Atsuko"},{"name":"Oki Ryosuke"},{"name":"Tsukamoto-Miyashiro Ai"},{"name":"Matsui Naoko"},{"name":"Miyazaki Yoshimichi"},{"name":"Orlacchio Antonio"},{"name":"Izumi Yuishin"},{"name":"Nishida Yoshihiko"},{"name":"Kaji Ryuji"}],"ja":[{"name":"瓦井 俊孝"},{"name":"Miyamoto Ryosuke"},{"name":"Mori Atsuko"},{"name":"Oki Ryosuke"},{"name":"Tsukamoto-Miyashiro Ai"},{"name":"松井 尚子"},{"name":"宮﨑 由道"},{"name":"Orlacchio Antonio"},{"name":"和泉 唯信"},{"name":"Nishida Yoshihiko"},{"name":"梶 龍兒"}]},"description":{"en":"We identified a novel homozygous mutation in the splice site donor (SSD) of intron 30 (c.5866+1G>A) in consanguineous Japanese SPG11 siblings showing late-onset spastic paraplegia using the whole-exome sequencing. Phenotypic variability was observed, including age-at-onset, dysarthria and pes cavus. Coding DNA sequencing revealed that the mutation affected the recognition of the constitutive SSD of intron 30, splicing upstream onto a nearby cryptic SSD in exon 30. The use of constitutive splice sites of intron 29 was confirmed by sequencing. The mutant transcripts are mostly subject to degradation by the nonsense-mediated mRNA decay system. SPG11 transcripts, escaping from the nonsense-mediated mRNA decay pathway, would generate a truncated protein (p.Tyr1900Phefs5X) containing the first 1899 amino acids and followed by 4 aberrant amino acids. This study showed a successful clinical application of whole-exome sequencing in spastic paraplegia and demonstrated a further evidence of allelic heterogeneity in SPG11. The confirmation of aberrant transcript by splice site mutation is a prerequisite for a more precise molecular diagnosis.","ja":"We identified a novel homozygous mutation in the splice site donor (SSD) of intron 30 (c.5866+1G>A) in consanguineous Japanese SPG11 siblings showing late-onset spastic paraplegia using the whole-exome sequencing. Phenotypic variability was observed, including age-at-onset, dysarthria and pes cavus. Coding DNA sequencing revealed that the mutation affected the recognition of the constitutive SSD of intron 30, splicing upstream onto a nearby cryptic SSD in exon 30. The use of constitutive splice sites of intron 29 was confirmed by sequencing. The mutant transcripts are mostly subject to degradation by the nonsense-mediated mRNA decay system. SPG11 transcripts, escaping from the nonsense-mediated mRNA decay pathway, would generate a truncated protein (p.Tyr1900Phefs5X) containing the first 1899 amino acids and followed by 4 aberrant amino acids. This study showed a successful clinical application of whole-exome sequencing in spastic paraplegia and demonstrated a further evidence of allelic heterogeneity in SPG11. The confirmation of aberrant transcript by splice site mutation is a prerequisite for a more precise molecular diagnosis."},"publication_date":"2015-10-30","publication_name":{"en":"Journal of the Neurological Sciences","ja":"Journal of the Neurological Sciences"},"volume":"Vol.359","number":"No.1-2","starting_page":"250","ending_page":"255","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.jns.2015.10.045"],"issn":["1878-5883"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/26408497","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=307133","label":"url"}],"paper_title":{"en":"Autopsy case of severe generalized dystonia and static ataxia with marked cerebellar atrophy.","ja":"Autopsy case of severe generalized dystonia and static ataxia with marked cerebellar atrophy."},"authors":{"en":[{"name":"Miyamoto Ryosuke"},{"name":"Sumikura Hiroyuki"},{"name":"Takeuchi Toshiaki"},{"name":"Sanada Mitsuru"},{"name":"Fujita Koji"},{"name":"Kawarai Toshitaka"},{"name":"Mure Hideo"},{"name":"Morigaki Ryoma"},{"name":"Goto Satoshi"},{"name":"Murayama Shigeo"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Miyamoto Ryosuke"},{"name":"Sumikura Hiroyuki"},{"name":"Takeuchi Toshiaki"},{"name":"Sanada Mitsuru"},{"name":"藤田 浩司"},{"name":"瓦井 俊孝"},{"name":"牟礼 英生"},{"name":"森垣 龍馬"},{"name":"Goto Satoshi"},{"name":"Murayama Shigeo"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"publication_date":"2015-09-25","publication_name":{"en":"Neurology","ja":"Neurology"},"volume":"Vol.85","number":"No.17","starting_page":"1522","ending_page":"1524","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1212/WNL.0000000000002061"],"issn":["1526-632X"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/26341153","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84956834073&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=306097","label":"url"}],"paper_title":{"en":"The effect of tremor onset on middle cerebellar peduncle of Parkinson's disease.","ja":"The effect of tremor onset on middle cerebellar peduncle of Parkinson's disease."},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Murakami Nagahisa"},{"name":"Miyazaki Yoshimichi"},{"name":"Abe Takashi"},{"name":"Harada Masafumi"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"佐光 亘"},{"name":"Murakami Nagahisa"},{"name":"宮﨑 由道"},{"name":"阿部 考志"},{"name":"原田 雅史"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"The majority of studies of Parkinson's disease (PD) focused on basal ganglia initially; however, accumulating evidence suggests cerebellar involvement in pathophysiology. We aimed to investigate the effects of tremor onset on middle cerebellar peduncle (MCP) width of PD patients and of disease duration on differential diagnosis. We measured MCP width of 81 PD, 34 multiple system atrophy (MSA) and 16 normal controls, using MRI. A meta-analysis was performed including two previous and the present studies. We carried out correlation analysis between disease duration and MCP width separately in subgroup of PD with or without tremor onset. Receiver operating characteristic curves were analyzed. Our meta-analysis indicated that MCP width was significantly smaller in MSA relative to PD with homogeneous studies. There was significant correlation between disease duration and MCP width in PD without tremor onset. In contrast, there was no correlation observed in PD with tremor onset. Subclassification according to disease duration showed improved area under curve of PD vs. MSA with predominant parkinsonian features. MCP width could be a valuable tool for differential diagnosis. Our finding suggested that MCP was impaired in advanced stage of PD without tremor onset as part of the abnormality of the cerebellar system.","ja":"The majority of studies of Parkinson's disease (PD) focused on basal ganglia initially; however, accumulating evidence suggests cerebellar involvement in pathophysiology. We aimed to investigate the effects of tremor onset on middle cerebellar peduncle (MCP) width of PD patients and of disease duration on differential diagnosis. We measured MCP width of 81 PD, 34 multiple system atrophy (MSA) and 16 normal controls, using MRI. A meta-analysis was performed including two previous and the present studies. We carried out correlation analysis between disease duration and MCP width separately in subgroup of PD with or without tremor onset. Receiver operating characteristic curves were analyzed. Our meta-analysis indicated that MCP width was significantly smaller in MSA relative to PD with homogeneous studies. There was significant correlation between disease duration and MCP width in PD without tremor onset. In contrast, there was no correlation observed in PD with tremor onset. Subclassification according to disease duration showed improved area under curve of PD vs. MSA with predominant parkinsonian features. MCP width could be a valuable tool for differential diagnosis. Our finding suggested that MCP was impaired in advanced stage of PD without tremor onset as part of the abnormality of the cerebellar system."},"publication_date":"2015-08-28","publication_name":{"en":"Journal of the Neurological Sciences","ja":"Journal of the Neurological Sciences"},"volume":"Vol.358","number":"No.1-2","starting_page":"172","ending_page":"177","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.jns.2015.08.1531"],"issn":["1878-5883"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/109981","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/26280014","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=303186","label":"url"}],"paper_title":{"en":"CSF cytokine profile distinguishes multifocal motor neuropathy from progressive muscular atrophy.","ja":"CSF cytokine profile distinguishes multifocal motor neuropathy from progressive muscular atrophy."},"authors":{"en":[{"name":"Furukawa Takahiro"},{"name":"Matsui Naoko"},{"name":"Fujita Koji"},{"name":"Nodera Hiroyuki"},{"name":"Shimizu Fumitaka"},{"name":"Miyamoto Katsuichi"},{"name":"Takahashi Yukitoshi"},{"name":"Kanda Takashi"},{"name":"Kusunoki Susumu"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Furukawa Takahiro"},{"name":"松井 尚子"},{"name":"藤田 浩司"},{"name":"野寺 裕之"},{"name":"Shimizu Fumitaka"},{"name":"Miyamoto Katsuichi"},{"name":"Takahashi Yukitoshi"},{"name":"Kanda Takashi"},{"name":"Kusunoki Susumu"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"The CSF cytokine profile of patients with MMN is distinct from that of patients with PMA and ALS. The similarity of the cytokine profiles between patients with PMA and ALS suggests that PMA shares common immunologic features with ALS in the CNS, even without clinical evidence of upper motor neuron involvement.","ja":"The CSF cytokine profile of patients with MMN is distinct from that of patients with PMA and ALS. The similarity of the cytokine profiles between patients with PMA and ALS suggests that PMA shares common immunologic features with ALS in the CNS, even without clinical evidence of upper motor neuron involvement."},"publication_date":"2015-08-06","publication_name":{"en":"Neurology® Neuroimmunology & Neuroinflammation","ja":"Neurology® Neuroimmunology & Neuroinflammation"},"volume":"Vol.2","number":"No.5","starting_page":"e138","ending_page":"e138","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1212/NXI.0000000000000138"],"issn":["2332-7812"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/26157035","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84937596766&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=298816","label":"url"}],"paper_title":{"en":"A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.","ja":"A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability."},"authors":{"en":[{"name":"Kawarai Toshitaka"},{"name":"Tajima Atsushi"},{"name":"Kuroda Yukiko"},{"name":"Saji Naoki"},{"name":"Orlacchio Antonio"},{"name":"Terasawa Hideo"},{"name":"Shimizu Hirotaka"},{"name":"Kita Yasushi"},{"name":"Izumi Yuishin"},{"name":"Mitsui Takao"},{"name":"Imoto Issei"},{"name":"Kaji Ryuji"}],"ja":[{"name":"瓦井 俊孝"},{"name":"田嶋 敦"},{"name":"Kuroda Yukiko"},{"name":"Saji Naoki"},{"name":"Orlacchio Antonio"},{"name":"Terasawa Hideo"},{"name":"Shimizu Hirotaka"},{"name":"Kita Yasushi"},{"name":"和泉 唯信"},{"name":"三ツ井 貴夫"},{"name":"井本 逸勢"},{"name":"梶 龍兒"}]},"description":{"en":"Mutated VWA3B was found to be likely associated with cerebellar degeneration with intellectual disability. Although a rare cause of cerebellar degeneration, these findings indicate a critical role for VWA3B in the apoptosis pathway in neuronal tissues.","ja":"Mutated VWA3B was found to be likely associated with cerebellar degeneration with intellectual disability. Although a rare cause of cerebellar degeneration, these findings indicate a critical role for VWA3B in the apoptosis pathway in neuronal tissues."},"publication_date":"2015-07-08","publication_name":{"en":"Journal of Neurology, Neurosurgery, and Psychiatry","ja":"Journal of Neurology, Neurosurgery, and Psychiatry"},"volume":"Vol.87","number":"No.6","starting_page":"656","ending_page":"662","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1136/jnnp-2014-309828"],"issn":["1468-330X"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/25868897","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84928368241&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=300222","label":"url"}],"paper_title":{"en":"Neurofilament light chain level in cerebrospinal fluid can differentiate Parkinson's disease from atypical parkinsonism: Evidence from a meta-analysis.","ja":"Neurofilament light chain level in cerebrospinal fluid can differentiate Parkinson's disease from atypical parkinsonism: Evidence from a meta-analysis."},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Murakami Nagahisa"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"佐光 亘"},{"name":"Murakami Nagahisa"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"A reliable test that facilitates the accurate diagnosis of Parkinson's and disorders will help with both, clinical management and therapeutic research. In this context, neurofilament light chain (NFL) is candidate for a biomarker in cerebrospinal fluid (CSF). A comprehensive literature search yielded 4 eligible studies. We expressed between-group difference of NFL concentration in CSF as the standardized mean difference. Four studies involved 166 Parkinson's disease (PD), 116 multiple system atrophy (MSA) and 73 progressive supranuclear palsy (PSP) patients. Patients with MSA showed higher concentration of NFL concentration in CSF than those with PD (standardized mean difference=1.60, P<0.0001). These studies were homogeneous (P=0.17). NFL in CSF in PSP was significantly elevated relative to PD with homogeneous studies (standardized mean difference=2.04, P<0.0001; P=0.99). The present meta-analysis suggested that NFL concentration in CSF in MSA and PSP was significantly increased relative to PD, and that this could help us to separate PD from atypical parkinsonian syndromes.","ja":"A reliable test that facilitates the accurate diagnosis of Parkinson's and disorders will help with both, clinical management and therapeutic research. In this context, neurofilament light chain (NFL) is candidate for a biomarker in cerebrospinal fluid (CSF). A comprehensive literature search yielded 4 eligible studies. We expressed between-group difference of NFL concentration in CSF as the standardized mean difference. Four studies involved 166 Parkinson's disease (PD), 116 multiple system atrophy (MSA) and 73 progressive supranuclear palsy (PSP) patients. Patients with MSA showed higher concentration of NFL concentration in CSF than those with PD (standardized mean difference=1.60, P<0.0001). These studies were homogeneous (P=0.17). NFL in CSF in PSP was significantly elevated relative to PD with homogeneous studies (standardized mean difference=2.04, P<0.0001; P=0.99). The present meta-analysis suggested that NFL concentration in CSF in MSA and PSP was significantly increased relative to PD, and that this could help us to separate PD from atypical parkinsonian syndromes."},"publication_date":"2015-04-07","publication_name":{"en":"Journal of the Neurological Sciences","ja":"Journal of the Neurological Sciences"},"volume":"Vol.352","number":"No.1-2","starting_page":"84","ending_page":"87","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.jns.2015.03.041"],"issn":["1878-5883"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/25868896","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84928366268&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=293109","label":"url"}],"paper_title":{"en":"Exome sequencing identifies a novel intronic mutation in ENG that causes recurrence of pulmonary arteriovenous malformations.","ja":"Exome sequencing identifies a novel intronic mutation in ENG that causes recurrence of pulmonary arteriovenous malformations."},"authors":{"en":[{"name":"Saji Naoki"},{"name":"Kawarai Toshitaka"},{"name":"Miyamoto Ryosuke"},{"name":"Sato Takahiro"},{"name":"Morino Hiroyuki"},{"name":"Orlacchio Antonio"},{"name":"Oki Ryosuke"},{"name":"Kimura Kazumi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Saji Naoki"},{"name":"瓦井 俊孝"},{"name":"Miyamoto Ryosuke"},{"name":"Sato Takahiro"},{"name":"Morino Hiroyuki"},{"name":"Orlacchio Antonio"},{"name":"沖 良祐"},{"name":"Kimura Kazumi"},{"name":"梶 龍兒"}]},"description":{"en":"Hereditary hemorrhagic telangiectasia (HHT) occasionally can be discovered in patients with cerebrovascular disease. Pulmonary arteriovenous malformation (PAVM) is one of the complications in HHT and occasionally is causative for life-threatening embolic stroke. Several genetic defects have been reported in patients with HHT. The broad spectrum of phenotype and intrafamilial phenotype variations, including age-at-onset of vascular events, often make an early diagnosis difficult. We present here a Japanese family with a novel intronic heterozygous mutation of ENG, which was identified using whole exome sequencing (WES). The intronic mutation, IVS3+4delAGTG, results in in-frame deletion of exon 3 and would produce a shorter ENG protein lacking the extracellular forty-seven amino acid sequences, which is located within the orphan domain. Our findings highlight the importance of the domain for the downstream signaling pathway of transforming growth factor-beta and bone morphogenesis protein superfamily receptors. Considering the phenotype variations and the available treatment for vascular complications, an early diagnosis using genetic testing, including WES, should be considered for individuals at risk of HHT.","ja":"Hereditary hemorrhagic telangiectasia (HHT) occasionally can be discovered in patients with cerebrovascular disease. Pulmonary arteriovenous malformation (PAVM) is one of the complications in HHT and occasionally is causative for life-threatening embolic stroke. Several genetic defects have been reported in patients with HHT. The broad spectrum of phenotype and intrafamilial phenotype variations, including age-at-onset of vascular events, often make an early diagnosis difficult. We present here a Japanese family with a novel intronic heterozygous mutation of ENG, which was identified using whole exome sequencing (WES). The intronic mutation, IVS3+4delAGTG, results in in-frame deletion of exon 3 and would produce a shorter ENG protein lacking the extracellular forty-seven amino acid sequences, which is located within the orphan domain. Our findings highlight the importance of the domain for the downstream signaling pathway of transforming growth factor-beta and bone morphogenesis protein superfamily receptors. Considering the phenotype variations and the available treatment for vascular complications, an early diagnosis using genetic testing, including WES, should be considered for individuals at risk of HHT."},"publication_date":"2015-04-02","publication_name":{"en":"Journal of the Neurological Sciences","ja":"Journal of the Neurological Sciences"},"volume":"Vol.352","number":"No.1-2","starting_page":"29","ending_page":"33","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.jns.2015.02.007"],"issn":["1878-5883"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/114466","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/25784860","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84925154247&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=298327","label":"url"}],"paper_title":{"en":"Development of a highly sensitive immunohistochemical method to detect neurochemical molecules in formalin-fixed and paraffin-embedded tissues from autopsied human brains.","ja":"Development of a highly sensitive immunohistochemical method to detect neurochemical molecules in formalin-fixed and paraffin-embedded tissues from autopsied human brains."},"authors":{"en":[{"name":"Goto Satoshi"},{"name":"Morigaki Ryoma"},{"name":"Okita Shinya"},{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"}],"ja":[{"name":"後藤 惠"},{"name":"森垣 龍馬"},{"name":"Okita Shinya"},{"name":"永廣 信治"},{"name":"梶 龍兒"}]},"description":{"en":"Immunohistochemistry (IHC) is a valuable method for identifying discrete neurochemical molecules by the interaction of target antigens with validated antibodies tagged with a visible label (e.g., peroxidase). We have developed an immunostaining method that is highly sensitive in detection of neurochemical antigens. Our IHC method, which we call the PBTA method, involves a hybrid protocol that implements aspects of both the polymer and avidin-biotin-complex (ABC) methods in combination with biotin-tyramide amplification. When using [Met]-enkephalin as a target antigen, the sensitivity of the PBTA method for IHC was more than 100-fold higher compared with the polymer and ABC methods. In addition, its sensitivity for enzyme-linked immunosorbent assay was about 1,000-fold higher compared with the ABC method. We examined the utility of our IHC method for both chromogenic and fluorescence detection systems used to visualize neurochemical peptides and proteins in formalin-fixed, paraffin-embedded tissues from autopsied human brains. The results convincingly demonstrate that under optimal conditions, our IHC method is highly sensitive without increasing non-specific background activities. Our IHC method could be a powerful tool for detection and visualization of neurochemical antigens that are present even in trace amounts in autopsied human brains.","ja":"Immunohistochemistry (IHC) is a valuable method for identifying discrete neurochemical molecules by the interaction of target antigens with validated antibodies tagged with a visible label (e.g., peroxidase). We have developed an immunostaining method that is highly sensitive in detection of neurochemical antigens. Our IHC method, which we call the PBTA method, involves a hybrid protocol that implements aspects of both the polymer and avidin-biotin-complex (ABC) methods in combination with biotin-tyramide amplification. When using [Met]-enkephalin as a target antigen, the sensitivity of the PBTA method for IHC was more than 100-fold higher compared with the polymer and ABC methods. In addition, its sensitivity for enzyme-linked immunosorbent assay was about 1,000-fold higher compared with the ABC method. We examined the utility of our IHC method for both chromogenic and fluorescence detection systems used to visualize neurochemical peptides and proteins in formalin-fixed, paraffin-embedded tissues from autopsied human brains. The results convincingly demonstrate that under optimal conditions, our IHC method is highly sensitive without increasing non-specific background activities. Our IHC method could be a powerful tool for detection and visualization of neurochemical antigens that are present even in trace amounts in autopsied human brains."},"publication_date":"2015-03-03","publication_name":{"en":"Frontiers in Neuroanatomy","ja":"Frontiers in Neuroanatomy"},"volume":"Vol.9","number":"No.22","languages":["eng"],"referee":true,"identifiers":{"doi":["10.3389/fnana.2015.00022"],"issn":["1662-5129"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/25516146","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=297867","label":"url"}],"paper_title":{"en":"Is the Susceptibility Vessel Sign on 3-Tesla Magnetic Resonance T2*-Weighted Imaging a Useful Tool to Predict Recanalization in Intravenous Tissue Plasminogen Activator?","ja":"Is the Susceptibility Vessel Sign on 3-Tesla Magnetic Resonance T2*-Weighted Imaging a Useful Tool to Predict Recanalization in Intravenous Tissue Plasminogen Activator?"},"authors":{"en":[{"name":"Yamamoto Nobuaki"},{"name":"Satomi Junichiro"},{"name":"Harada Masafumi"},{"name":"Izumi Yuishin"},{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"}],"ja":[{"name":"山本 伸昭"},{"name":"里見 淳一郎"},{"name":"原田 雅史"},{"name":"和泉 唯信"},{"name":"永廣 信治"},{"name":"梶 龍兒"}]},"description":{"en":"The aim of this study was to investigate the independent factors associated with the absence of recanalization approximately 24 h after intravenous administration of tissue-type plasminogen activator (IV TPA). The previous studies have been conducted using 1.5-Tesla (T) magnetic resonance imaging (MRI). We studied whether the characteristics of 3-T MRI findings were useful to predict outcome and recanalization after IV tPA. Patients with internal carotid artery (ICA) or middle cerebral artery (MCA) (horizontal portion, M1; Sylvian portion, M2) occlusion and treated by IV tPA were enrolled. We studied whether the presence of susceptibility vessel sign (SVS) at M1 and low clot burden score on T2*-weighted imaging (T2*-CBS) on 3-T MRI were associated with the absence of recanalization. A total of 49 patients were enrolled (27 men; mean age, 73.9 years). MR angiography obtained approximately 24 h after IV tPA revealed recanalization in 21 (42.9 %) patients. Independent factors associated with the absence of recanalization included ICA or proximal M1 occlusion (odds ratio, 69.6; 95 % confidence interval, 5.05-958.8, p = 0.002). In this study, an independent factor associated with the absence of recanalization may be proximal occlusion of the cerebral arteries rather than SVS in the MCA or low T2*-CBS on 3-T MRI.","ja":"The aim of this study was to investigate the independent factors associated with the absence of recanalization approximately 24 h after intravenous administration of tissue-type plasminogen activator (IV TPA). The previous studies have been conducted using 1.5-Tesla (T) magnetic resonance imaging (MRI). We studied whether the characteristics of 3-T MRI findings were useful to predict outcome and recanalization after IV tPA. Patients with internal carotid artery (ICA) or middle cerebral artery (MCA) (horizontal portion, M1; Sylvian portion, M2) occlusion and treated by IV tPA were enrolled. We studied whether the presence of susceptibility vessel sign (SVS) at M1 and low clot burden score on T2*-weighted imaging (T2*-CBS) on 3-T MRI were associated with the absence of recanalization. A total of 49 patients were enrolled (27 men; mean age, 73.9 years). MR angiography obtained approximately 24 h after IV tPA revealed recanalization in 21 (42.9 %) patients. Independent factors associated with the absence of recanalization included ICA or proximal M1 occlusion (odds ratio, 69.6; 95 % confidence interval, 5.05-958.8, p = 0.002). In this study, an independent factor associated with the absence of recanalization may be proximal occlusion of the cerebral arteries rather than SVS in the MCA or low T2*-CBS on 3-T MRI."},"publication_date":"2014-12-18","publication_name":{"en":"Clinical Neuroradiology","ja":"Clinical Neuroradiology"},"languages":["eng"],"referee":true,"identifiers":{"doi":["10.1007/s00062-014-0363-x"],"issn":["1869-1447"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/25523127","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=290057","label":"url"}],"paper_title":{"en":"Val66Met polymorphism of brain-derived neurotrophic factor is associated with idiopathic dystonia.","ja":"Val66Met polymorphism of brain-derived neurotrophic factor is associated with idiopathic dystonia."},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Murakami Nagahisa"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"佐光 亘"},{"name":"Murakami Nagahisa"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"The Val66Met (G196A; rs6265) single nucleotide polymorphism of brain-derived neurotrophic factor (BDNF) affects morphology and neuronal activity, and is expected to be associated with central nervous system disorders. However, it remains controversial whether Val66Met polymorphism is a risk factor for idiopathic dystonia. We aimed to clarify the impact of BDNF polymorphism on idiopathic dystonia. A literature search of PubMed was carried out. A random-effects model was employed for the meta-analysis. A pooled odds ratio (OR) was calculated along with 95% confidence intervals (CI) to reflect the risk of idiopathic dystonia in each genotype (GG, AG, AA) or minor allele. The proportion of variation due to heterogeneity was computed and expressed as I(2). Five case-control studies, comprising a total sample size of 1804 subjects (784 idiopathic dystonia patients, 1020 normal controls), were included in this meta-analysis. AA genotype was significantly more frequent in patients with idiopathic dystonia (OR=1.47, 95% CI 1.09-1.99, p=0.01, four studies, n=1716). This finding was derived from homogeneous studies (p=0.97, I(2)=0%). Our meta-analysis has revealed a significant overall effect of the AA genotype on the development of idiopathic dystonia.","ja":"The Val66Met (G196A; rs6265) single nucleotide polymorphism of brain-derived neurotrophic factor (BDNF) affects morphology and neuronal activity, and is expected to be associated with central nervous system disorders. However, it remains controversial whether Val66Met polymorphism is a risk factor for idiopathic dystonia. We aimed to clarify the impact of BDNF polymorphism on idiopathic dystonia. A literature search of PubMed was carried out. A random-effects model was employed for the meta-analysis. A pooled odds ratio (OR) was calculated along with 95% confidence intervals (CI) to reflect the risk of idiopathic dystonia in each genotype (GG, AG, AA) or minor allele. The proportion of variation due to heterogeneity was computed and expressed as I(2). Five case-control studies, comprising a total sample size of 1804 subjects (784 idiopathic dystonia patients, 1020 normal controls), were included in this meta-analysis. AA genotype was significantly more frequent in patients with idiopathic dystonia (OR=1.47, 95% CI 1.09-1.99, p=0.01, four studies, n=1716). This finding was derived from homogeneous studies (p=0.97, I(2)=0%). Our meta-analysis has revealed a significant overall effect of the AA genotype on the development of idiopathic dystonia."},"publication_date":"2014-12-15","publication_name":{"en":"Journal of Clinical Neuroscience","ja":"Journal of Clinical Neuroscience"},"volume":"Vol.22","number":"No.3","starting_page":"575","ending_page":"577","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.jocn.2014.08.014"],"issn":["1532-2653"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/25477219","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84920283485&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=297862","label":"url"}],"paper_title":{"en":"The two-1 layered susceptibility vessel sign on 3-tesla T2*-weighted imaging is a predictive biomarker of stroke subtype","ja":"The two-1 layered susceptibility vessel sign on 3-tesla T2*-weighted imaging is a predictive biomarker of stroke subtype"},"authors":{"en":[{"name":"Yamamoto Nobuaki"},{"name":"Satomi Junichiro"},{"name":"Tada Yoshiteru"},{"name":"Harada Masafumi"},{"name":"Izumi Yuishin"},{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"}],"ja":[{"name":"山本 伸昭"},{"name":"里見 淳一郎"},{"name":"多田 恵曜"},{"name":"原田 雅史"},{"name":"和泉 唯信"},{"name":"永廣 信治"},{"name":"梶 龍兒"}]},"description":{"en":"A susceptibility vessel sign (SVS) on 1.5-tesla (T)-T2*-weighted images may predict cardioembolism. It has also been detected in patients with large artery atherosclerosis. In patients with major vessel occlusion, the SVS was comprised 2 layers on 3T-T2*-weighted images. We assessed the efficacy of 2-layered SVS on 3T-T2*-weighted imaging scans for predicting cardioembolism. Our study included 132 patients who had ischemic stroke within the preceding 24 hours and presented with internal carotid artery or middle cerebral artery occlusion because of cardioembolism or large artery atherosclerosis. We compared 2-layered SVS and SVS on 3T-T2*-weighted imaging scans for their sensitivity, specificity, and diagnostic odds ratio for predicting cardioembolism. We enrolled 132 patients (72 men; mean age, 74.5 years); of these, 63 (47.7%) were presented with cardioembolism. Although the sensitivity of SVS and 2-layered SVS for cardioembolism and large artery atherosclerosis was not statistically different (74.6% and 58.0%, respectively), the sensitivity of 2-layered SVS was significantly higher in patients with cardioembolism (42.9%) than those with large artery atherosclerosis (2.9%; P<0.001). The specificity and diagnostic odds ratio for 2-layered SVS for cardioembolism were 97.1% and 25.1; for SVS they were 42.0% and 2.1, respectively. The specificity of 2-layered SVS for cardioembolism was high. It may be useful for predicting cardioembolism and for the management of patients with acute ischemic stroke.","ja":"A susceptibility vessel sign (SVS) on 1.5-tesla (T)-T2*-weighted images may predict cardioembolism. It has also been detected in patients with large artery atherosclerosis. In patients with major vessel occlusion, the SVS was comprised 2 layers on 3T-T2*-weighted images. We assessed the efficacy of 2-layered SVS on 3T-T2*-weighted imaging scans for predicting cardioembolism. Our study included 132 patients who had ischemic stroke within the preceding 24 hours and presented with internal carotid artery or middle cerebral artery occlusion because of cardioembolism or large artery atherosclerosis. We compared 2-layered SVS and SVS on 3T-T2*-weighted imaging scans for their sensitivity, specificity, and diagnostic odds ratio for predicting cardioembolism. We enrolled 132 patients (72 men; mean age, 74.5 years); of these, 63 (47.7%) were presented with cardioembolism. Although the sensitivity of SVS and 2-layered SVS for cardioembolism and large artery atherosclerosis was not statistically different (74.6% and 58.0%, respectively), the sensitivity of 2-layered SVS was significantly higher in patients with cardioembolism (42.9%) than those with large artery atherosclerosis (2.9%; P<0.001). The specificity and diagnostic odds ratio for 2-layered SVS for cardioembolism were 97.1% and 25.1; for SVS they were 42.0% and 2.1, respectively. The specificity of 2-layered SVS for cardioembolism was high. It may be useful for predicting cardioembolism and for the management of patients with acute ischemic stroke."},"publication_date":"2014-12-04","publication_name":{"en":"Stroke","ja":"Stroke"},"volume":"Vol.46","number":"No.1","starting_page":"269","ending_page":"271","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1161/STROKEAHA.114.007227"],"issn":["1524-4628"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://cir.nii.ac.jp/crid/1390282679616796928/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=296835","label":"url"}],"paper_title":{"en":"脳梗塞発症後早期からの抗血小板薬使用が予後に及ぼす影響の検討","ja":"脳梗塞発症後早期からの抗血小板薬使用が予後に及ぼす影響の検討"},"authors":{"en":[{"name":"Yamamoto Nobuaki"},{"name":"Satomi Junichiro"},{"name":"Terasawa Yuka"},{"name":"Syu Sogabe"},{"name":"Nakajima Kohhei"},{"name":"Sato Yasuhito"},{"name":"Kazuhiko Bando"},{"name":"Masahito Agawa"},{"name":"Noboru Asano"},{"name":"Hideki Hondo"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"},{"name":"Nagahiro Shinji"}],"ja":[{"name":"山本 伸昭"},{"name":"里見 淳一郎"},{"name":"寺澤 由佳"},{"name":"曽我部 周"},{"name":"中島 公平"},{"name":"佐藤 泰仁"},{"name":"板東 一彦"},{"name":"阿川 昌仁"},{"name":"浅野 登"},{"name":"本藤 秀樹"},{"name":"和泉 唯信"},{"name":"梶 龍兒"},{"name":"永廣 信治"}]},"publication_date":"2014-11-25","publication_name":{"en":"Japanese Journal of Stroke","ja":"脳卒中"},"volume":"Vol.36","number":"No.6","starting_page":"419","ending_page":"424","languages":["jpn"],"referee":true,"identifiers":{"doi":["10.3995/jstroke.36.419"],"issn":["1883-1923"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/25465356","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=298004","label":"url"}],"paper_title":{"en":"Ultrasonographic evaluation of myokymic discharges.","ja":"Ultrasonographic evaluation of myokymic discharges."},"authors":{"en":[{"name":"Osaki Yusuke"},{"name":"Takamatsu Naoko"},{"name":"Shimatani Yoshimitsu"},{"name":"Mori Atsuko"},{"name":"Maruyama Keiko"},{"name":"Miyazaki Yoshimichi"},{"name":"Nodera Hiroyuki"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Osaki Yusuke"},{"name":"Takamatsu Naoko"},{"name":"島谷 佳光"},{"name":"Mori Atsuko"},{"name":"Maruyama Keiko"},{"name":"宮﨑 由道"},{"name":"野寺 裕之"},{"name":"梶 龍兒"}]},"publication_date":"2014-11-06","publication_name":{"en":"Clinical Neurophysiology","ja":"Clinical Neurophysiology"},"volume":"Vol.126","number":"No.8","starting_page":"1638","ending_page":"1639","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.clinph.2014.10.154"],"issn":["1872-8952"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/25359437","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84910089742&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=298818","label":"url"}],"paper_title":{"en":"Deep brain stimulation of the thalamic ventral lateral anterior nucleus for DYT6 dystonia.","ja":"Deep brain stimulation of the thalamic ventral lateral anterior nucleus for DYT6 dystonia."},"authors":{"en":[{"name":"Mure Hideo"},{"name":"Morigaki Ryoma"},{"name":"Koizumi Hidetaka"},{"name":"Okita Shinya"},{"name":"Kawarai Toshitaka"},{"name":"Miyamoto Ryosuke"},{"name":"Kaji Ryuji"},{"name":"Nagahiro Shinji"},{"name":"Goto Satoshi"}],"ja":[{"name":"牟礼 英生"},{"name":"森垣 龍馬"},{"name":"Koizumi Hidetaka"},{"name":"Okita Shinya"},{"name":"瓦井 俊孝"},{"name":"Miyamoto Ryosuke"},{"name":"梶 龍兒"},{"name":"永廣 信治"},{"name":"後藤 惠"}]},"description":{"en":"The thalamic VLa nucleus could serve as an alternative target in DBS therapy for DYT6 dystonia.","ja":"The thalamic VLa nucleus could serve as an alternative target in DBS therapy for DYT6 dystonia."},"publication_date":"2014-10-28","publication_name":{"en":"Stereotactic and Functional Neurosurgery","ja":"Stereotactic and Functional Neurosurgery"},"volume":"Vol.92","number":"No.6","starting_page":"393","ending_page":"396","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1159/000365577"],"issn":["1423-0372"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/109500","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/25304174","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=298003","label":"url"}],"paper_title":{"en":"Abnormal gating of axonal slow potassium current in cramp-fasciculation syndrome.","ja":"Abnormal gating of axonal slow potassium current in cramp-fasciculation syndrome."},"authors":{"en":[{"name":"Shimatani Yoshimitsu"},{"name":"Nodera Hiroyuki"},{"name":"Shibuta Yoshiko"},{"name":"Miyazaki Yoshimichi"},{"name":"Misawa Sonoko"},{"name":"Kuwabara Satoshi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"島谷 佳光"},{"name":"野寺 裕之"},{"name":"Shibuta Yoshiko"},{"name":"宮﨑 由道"},{"name":"Misawa Sonoko"},{"name":"Kuwabara Satoshi"},{"name":"梶 龍兒"}]},"description":{"en":"Cramp-fasciculation syndrome (CFS) is a heterogeneous condition with multiple underlying causes. Although dysfunction of slow K(+) channels has been reported in patients with CFS, testing all potential candidates for this problem using conventional in vitro functional analysis would be prohibitively cost- and labor-intensive. However, relatively economical and non-invasive nerve-excitability testing can identify ion channel dysfunction in vivo when combined with numerical modeling. Patients with CFS underwent nerve conduction study, needle electromyography, and nerve excitability testing. Mathematical modeling of axonal properties was applied to identify the pathophysiology. Four patients had distinct electrophysiological findings (i.e., fasciculation potentials, doublet/multiplet motor unit potentials, and sustained F responses); excitability testing showed the following abnormalities: reduction of accommodation during prolonged depolarization, lack of late sub excitability after a supramaximal stimulation, and reduction of the strength-duration time constant. Mathematical modeling showed a loss of voltage-dependence of a slow K(+) current. None of these patients had a mutation in the KCNQ2, 3, or 5 genes. This study showed that patients with CFS might have abnormal kinetics in a slow K(+) current. Nerve-excitability testing may aid the decision to start therapeutic intervention such as administration of slow K(+) channel openers.","ja":"Cramp-fasciculation syndrome (CFS) is a heterogeneous condition with multiple underlying causes. Although dysfunction of slow K(+) channels has been reported in patients with CFS, testing all potential candidates for this problem using conventional in vitro functional analysis would be prohibitively cost- and labor-intensive. However, relatively economical and non-invasive nerve-excitability testing can identify ion channel dysfunction in vivo when combined with numerical modeling. Patients with CFS underwent nerve conduction study, needle electromyography, and nerve excitability testing. Mathematical modeling of axonal properties was applied to identify the pathophysiology. Four patients had distinct electrophysiological findings (i.e., fasciculation potentials, doublet/multiplet motor unit potentials, and sustained F responses); excitability testing showed the following abnormalities: reduction of accommodation during prolonged depolarization, lack of late sub excitability after a supramaximal stimulation, and reduction of the strength-duration time constant. Mathematical modeling showed a loss of voltage-dependence of a slow K(+) current. None of these patients had a mutation in the KCNQ2, 3, or 5 genes. This study showed that patients with CFS might have abnormal kinetics in a slow K(+) current. Nerve-excitability testing may aid the decision to start therapeutic intervention such as administration of slow K(+) channel openers."},"publication_date":"2014-09-28","publication_name":{"en":"Clinical Neurophysiology","ja":"Clinical Neurophysiology"},"volume":"Vol.126","number":"No.6","starting_page":"1246","ending_page":"1254","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.clinph.2014.09.013"],"issn":["1872-8952"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/106332","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/25088163","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84908209055&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=297863","label":"url"}],"paper_title":{"en":"Predictors of neurologic deterioration in patients with small-vessel occlusion and infarcts in the territory of perforating arteries","ja":"Predictors of neurologic deterioration in patients with small-vessel occlusion and infarcts in the territory of perforating arteries"},"authors":{"en":[{"name":"Yamamoto Nobuaki"},{"name":"Terasawa Yuka"},{"name":"Satomi Junichiro"},{"name":"Waka Sakai"},{"name":"Harada Masafumi"},{"name":"Izumi Yuishin"},{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"}],"ja":[{"name":"山本 伸昭"},{"name":"寺澤 由佳"},{"name":"里見 淳一郎"},{"name":"酒井 和香"},{"name":"原田 雅史"},{"name":"和泉 唯信"},{"name":"永廣 信治"},{"name":"梶 龍兒"}]},"description":{"en":"It is difficult to predict neurologic deterioration in patients with small-vessel occlusion (SVO), that is, small infarcts in the territory of cerebral perforating arteries. We reviewed 110 patients with SVO who were admitted to our hospital. We divided them into groups with (n = 32, group 1) and without deterioration (n = 78, group 2) and evaluated their medical records, risk factors, magnetic resonance imaging findings, grade of periventricular hyperintensity (PVH), maximum diameter of the infarct area, and the number of slices showing infarcts on diffusion-weighted images (DWI). Our study population consisted of 110 patients (71 males and 39 females; mean age 69.2 years): 32 (29%) did and 78 (71%) did not suffer deterioration. By univariate analysis, the age, current smoking, history of stroke, maximum diameter of the infarcted area, number of DWI slices with infarcts, frequency of PVH, and PVH grade based on Fazekas classification differed significantly between the 2 groups. By multivariate analysis, conventional risk factors other than PVH and history of stroke were not associated with neurologic deterioration (PVH grade ≥ 2 versus PVH grade ≤ 1, odds ratio 6.72, P = .006; with stroke versus without stroke, odds ratio .21, P = .049). We also found that higher the PVH grade, the worse the National Institutes of Health Stroke Scale score at the time of discharge. PVH and without history of stroke are independently associated with neurologic deterioration in patients with SVO.","ja":"It is difficult to predict neurologic deterioration in patients with small-vessel occlusion (SVO), that is, small infarcts in the territory of cerebral perforating arteries. We reviewed 110 patients with SVO who were admitted to our hospital. We divided them into groups with (n = 32, group 1) and without deterioration (n = 78, group 2) and evaluated their medical records, risk factors, magnetic resonance imaging findings, grade of periventricular hyperintensity (PVH), maximum diameter of the infarct area, and the number of slices showing infarcts on diffusion-weighted images (DWI). Our study population consisted of 110 patients (71 males and 39 females; mean age 69.2 years): 32 (29%) did and 78 (71%) did not suffer deterioration. By univariate analysis, the age, current smoking, history of stroke, maximum diameter of the infarcted area, number of DWI slices with infarcts, frequency of PVH, and PVH grade based on Fazekas classification differed significantly between the 2 groups. By multivariate analysis, conventional risk factors other than PVH and history of stroke were not associated with neurologic deterioration (PVH grade ≥ 2 versus PVH grade ≤ 1, odds ratio 6.72, P = .006; with stroke versus without stroke, odds ratio .21, P = .049). We also found that higher the PVH grade, the worse the National Institutes of Health Stroke Scale score at the time of discharge. PVH and without history of stroke are independently associated with neurologic deterioration in patients with SVO."},"publication_date":"2014-09","publication_name":{"en":"Journal of Stroke & Cerebrovascular Diseases","ja":"Journal of Stroke & Cerebrovascular Diseases"},"volume":"Vol.23","number":"No.8","starting_page":"2151","ending_page":"2155","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.jstrokecerebrovasdis.2014.04.011"],"issn":["1532-8511"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/25130929","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=284689","label":"url"}],"paper_title":{"en":"Increased proinflammatory cytokines in sera of patients with multifocal motor neuropathy.","ja":"Increased proinflammatory cytokines in sera of patients with multifocal motor neuropathy."},"authors":{"en":[{"name":"Furukawa Takahiro"},{"name":"Matsui Naoko"},{"name":"Fujita Koji"},{"name":"Miyashiro Ai"},{"name":"Nodera Hiroyuki"},{"name":"Izumi Yuishin"},{"name":"Shimizu Fumitaka"},{"name":"Miyamoto Katsuichi"},{"name":"Takahashi Yukitoshi"},{"name":"Kanda Takashi"},{"name":"Kusunoki Susumu"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Furukawa Takahiro"},{"name":"松井 尚子"},{"name":"藤田 浩司"},{"name":"宮城 愛"},{"name":"野寺 裕之"},{"name":"和泉 唯信"},{"name":"Shimizu Fumitaka"},{"name":"Miyamoto Katsuichi"},{"name":"Takahashi Yukitoshi"},{"name":"Kanda Takashi"},{"name":"Kusunoki Susumu"},{"name":"梶 龍兒"}]},"description":{"en":"Proinflammatory cytokines may contribute to peripheral nerve demyelination in MMN.","ja":"Proinflammatory cytokines may contribute to peripheral nerve demyelination in MMN."},"publication_date":"2014-08-04","publication_name":{"en":"Journal of the Neurological Sciences","ja":"Journal of the Neurological Sciences"},"volume":"Vol.346","number":"No.1-2","starting_page":"75","ending_page":"79","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.jns.2014.07.059"],"issn":["1878-5883"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/25087556","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84906089774&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=303863","label":"url"}],"paper_title":{"en":"Case of neuromyelitis optica spectrum disorder associated with central pontine and extrapontine myelinolysis preceded by syndrome of inappropriate antidiuretic hormone secretion","ja":"抗利尿ホルモン分泌異常症候群で発症し,橋中心・橋外髄鞘崩壊症を合併した視神経脊髄炎関連疾患の1例"},"authors":{"en":[{"name":"酒井 和香"},{"name":"Matsui Naoko"},{"name":"Fujita Koji"},{"name":"Izumi Yuishin"},{"name":"西田 喜彦"},{"name":"高橋 利幸"},{"name":"神林 崇"},{"name":"Kaji Ryuji"}],"ja":[{"name":"酒井 和香"},{"name":"松井 尚子"},{"name":"藤田 浩司"},{"name":"和泉 唯信"},{"name":"西田 喜彦"},{"name":"高橋 利幸"},{"name":"神林 崇"},{"name":"梶 龍兒"}]},"description":{"en":"A 36-year-old woman complained of general malaise. She presented with hyponatremia and plasma osmotic pressure was lower than urinary osmotic pressure. In addition, serum antidiuretic hormone level was higher than the measurement sensitivity. She was diagnosed with the syndrome of inappropriate antidiuretic hormone secretion (SIADH). She fell into a coma despite correction of serum sodium level. Brain magnetic resonance imaging (MRI) revealed high signal intensities in the cerebral cortex, striatum, thalamus, hypothalamus, midbrain, and pons in fluid-attenuated inversion recovery images. Spinal MRI revealed a longitudinally extending lesion in the cervical cord. Serum sample was positive for anti-aquaporin-4 antibody, supporting the diagnosis of neuromyelitis optica spectrum disorder (NMOSD) combined with central pontine and extrapontine myelinolysis. In patients with NMOSD, the immune reaction can gradually cause destructive changes of the hypothalamus and lead to unstable ADH secretion in the absence of immunomodulatory treatment.","ja":"A 36-year-old woman complained of general malaise. She presented with hyponatremia and plasma osmotic pressure was lower than urinary osmotic pressure. In addition, serum antidiuretic hormone level was higher than the measurement sensitivity. She was diagnosed with the syndrome of inappropriate antidiuretic hormone secretion (SIADH). She fell into a coma despite correction of serum sodium level. Brain magnetic resonance imaging (MRI) revealed high signal intensities in the cerebral cortex, striatum, thalamus, hypothalamus, midbrain, and pons in fluid-attenuated inversion recovery images. Spinal MRI revealed a longitudinally extending lesion in the cervical cord. Serum sample was positive for anti-aquaporin-4 antibody, supporting the diagnosis of neuromyelitis optica spectrum disorder (NMOSD) combined with central pontine and extrapontine myelinolysis. In patients with NMOSD, the immune reaction can gradually cause destructive changes of the hypothalamus and lead to unstable ADH secretion in the absence of immunomodulatory treatment."},"publication_date":"2014-08-02","publication_name":{"en":"Clinical Neurology","ja":"臨床神経学"},"volume":"Vol.54","number":"No.7","starting_page":"556","ending_page":"560","languages":["jpn"],"referee":true,"identifiers":{"doi":["10.5692/clinicalneurol.54.556"],"issn":["1882-0654"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/114463","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/25002857","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=298328","label":"url"}],"paper_title":{"en":"Spinal Central Effects of Peripherally Applied Botulinum Neurotoxin A in Comparison between Its Subtypes A1 and A2.","ja":"Spinal Central Effects of Peripherally Applied Botulinum Neurotoxin A in Comparison between Its Subtypes A1 and A2."},"authors":{"en":[{"name":"Koizumi Hidetaka"},{"name":"Goto Satoshi"},{"name":"Okita Shinya"},{"name":"Morigaki Ryoma"},{"name":"Akaike Norio"},{"name":"Torii Yasushi"},{"name":"Harakawa Tetsuhiro"},{"name":"Ginnaga Akihiro"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Koizumi Hidetaka"},{"name":"後藤 惠"},{"name":"Okita Shinya"},{"name":"森垣 龍馬"},{"name":"Akaike Norio"},{"name":"Torii Yasushi"},{"name":"Harakawa Tetsuhiro"},{"name":"Ginnaga Akihiro"},{"name":"梶 龍兒"}]},"description":{"en":"Because of its unique ability to exert long-lasting synaptic transmission blockade, botulinum neurotoxin A (BoNT/A) is used to treat a wide variety of disorders involving peripheral nerve terminal hyperexcitability. However, it has been a matter of debate whether this toxin has central or peripheral sites of action. We employed a rat model in which BoNT/A1 or BoNT/A2 was unilaterally injected into the gastrocnemius muscle. On time-course measurements of compound muscle action potential (CMAP) amplitudes after injection of BoNT/A1 or BoNT/A2 at doses ranging from 1.7 to 13.6 U, CMAP amplitude for the ipsilateral hind leg was markedly decreased on the first day, and this muscle flaccidity persisted up to the 14th day. Of note, both BoNT/A1 and BoNT/A2 administrations also resulted in decreased CMAP amplitudes for the contralateral leg in a dose-dependent manner ranging from 1.7 to 13.6 U, and this muscle flaccidity increased until the fourth day and then slowly recovered. Immunohistochemical results revealed that BoNT/A-cleaved synaptosomal-associated protein of 25 kDa (SNAP-25) appeared in the bilateral ventral and dorsal horns 4 days after injection of BoNT/A1 (10 U) or BoNT/A2 (10 U), although there seemed to be a wider spread of BoNT/A-cleaved SNAP-25 associated with BoNT/A1 than BoNT/A2 in the contralateral spinal cord. This suggests that the catalytically active BoNT/A1 and BoNT/A2 were axonally transported via peripheral motor and sensory nerves to the spinal cord, where they spread through a transcytosis (cell-to-cell trafficking) mechanism. Our results provide evidence for the central effects of intramuscularly administered BoNT/A1 and BoNT/A2 in the spinal cord, and a new insight into the clinical effects of peripheral BoNT/A applications.","ja":"Because of its unique ability to exert long-lasting synaptic transmission blockade, botulinum neurotoxin A (BoNT/A) is used to treat a wide variety of disorders involving peripheral nerve terminal hyperexcitability. However, it has been a matter of debate whether this toxin has central or peripheral sites of action. We employed a rat model in which BoNT/A1 or BoNT/A2 was unilaterally injected into the gastrocnemius muscle. On time-course measurements of compound muscle action potential (CMAP) amplitudes after injection of BoNT/A1 or BoNT/A2 at doses ranging from 1.7 to 13.6 U, CMAP amplitude for the ipsilateral hind leg was markedly decreased on the first day, and this muscle flaccidity persisted up to the 14th day. Of note, both BoNT/A1 and BoNT/A2 administrations also resulted in decreased CMAP amplitudes for the contralateral leg in a dose-dependent manner ranging from 1.7 to 13.6 U, and this muscle flaccidity increased until the fourth day and then slowly recovered. Immunohistochemical results revealed that BoNT/A-cleaved synaptosomal-associated protein of 25 kDa (SNAP-25) appeared in the bilateral ventral and dorsal horns 4 days after injection of BoNT/A1 (10 U) or BoNT/A2 (10 U), although there seemed to be a wider spread of BoNT/A-cleaved SNAP-25 associated with BoNT/A1 than BoNT/A2 in the contralateral spinal cord. This suggests that the catalytically active BoNT/A1 and BoNT/A2 were axonally transported via peripheral motor and sensory nerves to the spinal cord, where they spread through a transcytosis (cell-to-cell trafficking) mechanism. Our results provide evidence for the central effects of intramuscularly administered BoNT/A1 and BoNT/A2 in the spinal cord, and a new insight into the clinical effects of peripheral BoNT/A applications."},"publication_date":"2014-06-23","publication_name":{"en":"Frontiers in Neurology","ja":"Frontiers in Neurology"},"volume":"Vol.5","number":"No.98","languages":["eng"],"referee":true,"identifiers":{"doi":["10.3389/fneur.2014.00098"],"issn":["1664-2295"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/24844749","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=283978","label":"url"}],"paper_title":{"en":"The difference in putamen volume between MSA and PD: Evidence from a meta-analysis.","ja":"The difference in putamen volume between MSA and PD: Evidence from a meta-analysis."},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Murakami Nagahisa"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"佐光 亘"},{"name":"Murakami Nagahisa"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"Our findings based on group-level analysis suggested that volumetry of the putamen could be useful for differential diagnosis between MSA and PD at the early stage of disease, and also help to enroll more accurate disease group for disease modifying study in future.","ja":"Six studies, comprising a sample size of 84 MSA and 180 PD, were included in this meta-analysis. The overall effect indicated that putamen volume in MSA was significantly more reduced than that in PD with heterogeneous studies (P = 0.0004, 6 studies, n = 264, I(2) = 87%). A subgroup analysis revealed that the category of \"Hoehn-Yahr stage of PD\" showed a significant subgroup difference with a significant subgroup summary effect (subgroup difference: P = 0.003)."},"publication_date":"2014-05-09","publication_name":{"en":"Parkinsonism & Related Disorders","ja":"Parkinsonism & Related Disorders"},"volume":"Vol.20","number":"No.8","starting_page":"873","ending_page":"877","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.parkreldis.2014.04.028"],"issn":["1873-5126"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/23926278","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84898925618&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=303979","label":"url"}],"paper_title":{"en":"Sera from patients with multifocal motor neuropathy disrupt the blood-nerve barrier","ja":"Sera from patients with multifocal motor neuropathy disrupt the blood-nerve barrier"},"authors":{"en":[{"name":"Shimizu Fumitaka"},{"name":"Omoto Masatoshi"},{"name":"Sano Yasuteru"},{"name":"Matsui Naoko"},{"name":"Miyashiro Ai"},{"name":"Tasaki Ayako"},{"name":"Maeda Toshihiko"},{"name":"Koga Michiaki"},{"name":"Kaji Ryuji"},{"name":"Kanda Takashi"}],"ja":[{"name":"Shimizu Fumitaka"},{"name":"Omoto Masatoshi"},{"name":"Sano Yasuteru"},{"name":"松井 尚子"},{"name":"宮城 愛"},{"name":"Tasaki Ayako"},{"name":"Maeda Toshihiko"},{"name":"Koga Michiaki"},{"name":"梶 龍兒"},{"name":"Kanda Takashi"}]},"description":{"en":"In multifocal motor neuropathy (MMN), the destruction of the blood-nerve barrier (BNB) has been considered to be the key step in the disease process. The purpose of the present study was to ascertain whether sera from patients with MMN can open the BNB, and which component of patient sera is the most important for this disruption. We evaluated the effects of sera from patients with MMN, patients with amyotrophic lateral sclerosis, and control subjects on the expression of tight junction proteins and vascular cell adhesion molecule-1 (VCAM-1), and on the transendothelial electrical resistance (TEER) in human peripheral nerve microvascular endothelial cells (PnMECs). The sera from patients with MMN decreased the claudin-5 protein expression and the TEER in PnMECs. However, this effect was reversed after application of an anti-vascular endothelial growth factor (anti-VEGF) neutralising antibody. The VEGF secreted by PnMECs was significantly increased after exposure to the sera from patients with MMN. The sera from patients with MMN also increased the VCAM-1 protein expression by upregulating the nuclear factor kappa-B (NF-κB) signalling. The immunoglobulin G purified from MMN sera decreased the expression of claudin-5 and increased the VCAM-1 expression in PnMECs. The sera from MMN patients may disrupt the BNB function via the autocrine secretion of VEGF in PnMECs, or the exposure to autoantibodies against PnMECs that are contained in the MMN sera. Autoantibodies against PnMECs in MMN sera may activate the BNB by upregulating the VCAM-1 expression, thereby allowing for the entry of a large number of circulating inflammatory cells into the peripheral nervous system.","ja":"In multifocal motor neuropathy (MMN), the destruction of the blood-nerve barrier (BNB) has been considered to be the key step in the disease process. The purpose of the present study was to ascertain whether sera from patients with MMN can open the BNB, and which component of patient sera is the most important for this disruption. We evaluated the effects of sera from patients with MMN, patients with amyotrophic lateral sclerosis, and control subjects on the expression of tight junction proteins and vascular cell adhesion molecule-1 (VCAM-1), and on the transendothelial electrical resistance (TEER) in human peripheral nerve microvascular endothelial cells (PnMECs). The sera from patients with MMN decreased the claudin-5 protein expression and the TEER in PnMECs. However, this effect was reversed after application of an anti-vascular endothelial growth factor (anti-VEGF) neutralising antibody. The VEGF secreted by PnMECs was significantly increased after exposure to the sera from patients with MMN. The sera from patients with MMN also increased the VCAM-1 protein expression by upregulating the nuclear factor kappa-B (NF-κB) signalling. The immunoglobulin G purified from MMN sera decreased the expression of claudin-5 and increased the VCAM-1 expression in PnMECs. The sera from MMN patients may disrupt the BNB function via the autocrine secretion of VEGF in PnMECs, or the exposure to autoantibodies against PnMECs that are contained in the MMN sera. Autoantibodies against PnMECs in MMN sera may activate the BNB by upregulating the VCAM-1 expression, thereby allowing for the entry of a large number of circulating inflammatory cells into the peripheral nervous system."},"publication_date":"2014-05","publication_name":{"en":"Journal of Neurology, Neurosurgery, and Psychiatry","ja":"Journal of Neurology, Neurosurgery, and Psychiatry"},"volume":"Vol.85","number":"No.5","starting_page":"526","ending_page":"537","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1136/jnnp-2013-305405"],"issn":["1468-330X"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=298060","label":"url"}],"paper_title":{"en":"MIBG Myocardial Scintigraphy can Predict the Occurrence of Wearing-off Phenomenon in Early-stage Parkinsons Disease","ja":"MIBG Myocardial Scintigraphy can Predict the Occurrence of Wearing-off Phenomenon in Early-stage Parkinsons Disease"},"authors":{"en":[{"name":"Miyazaki Yoshimichi"},{"name":"Sako Wataru"},{"name":"Sato Kenta"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"宮﨑 由道"},{"name":"佐光 亘"},{"name":"佐藤 健太"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"publication_date":"2014-04-18","publication_name":{"en":"Journal of Neurological Disorders","ja":"Journal of Neurological Disorders"},"volume":"Vol.2","starting_page":"154","ending_page":"154","languages":["eng"],"referee":true,"identifiers":{"doi":["10.4172/2329-6895.1000154"],"issn":["2329-6895"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/105906","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/24741683","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84893935930&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=288179","label":"url"}],"paper_title":{"en":"Are multifocal motor neuropathy patients underdiagnosed? An epidemiological survey in Japan","ja":"Are multifocal motor neuropathy patients underdiagnosed? An epidemiological survey in Japan"},"authors":{"en":[{"name":"Miyashiro Ai"},{"name":"Matsui Naoko"},{"name":"Shimatani Yoshimitsu"},{"name":"Nodera Hiroyuki"},{"name":"Izumi Yuishin"},{"name":"Kawabata Satoshi"},{"name":"Imai Tomihiro"},{"name":"Baba Masayuki"},{"name":"Komori Tetsuo"},{"name":"Sonoo Masahiro"},{"name":"Maezaki Takahiro"},{"name":"Kawamata Jun"},{"name":"Hitomi Takefumi"},{"name":"Kohara Nobuo"},{"name":"Arimura Kimiyoshi"},{"name":"Hashimoto Shuji"},{"name":"Arisawa Kokichi"},{"name":"Kusunoki Susumu"},{"name":"Kaji Ryuji"}],"ja":[{"name":"宮城 愛"},{"name":"松井 尚子"},{"name":"島谷 佳光"},{"name":"野寺 裕之"},{"name":"和泉 唯信"},{"name":"Kawabata Satoshi"},{"name":"Imai Tomihiro"},{"name":"Baba Masayuki"},{"name":"Komori Tetsuo"},{"name":"Sonoo Masahiro"},{"name":"Maezaki Takahiro"},{"name":"Kawamata Jun"},{"name":"Hitomi Takefumi"},{"name":"Kohara Nobuo"},{"name":"Arimura Kimiyoshi"},{"name":"Hashimoto Shuji"},{"name":"有澤 孝吉"},{"name":"Kusunoki Susumu"},{"name":"梶 龍兒"}]},"description":{"en":"Our objective was to do an epidemiologic survey of patients with multifocal motor neuropathy (MMN) in comparison with those with amyotrophic lateral sclerosis (ALS) in Japan. In this retrospective study, we examined 46 patients with MMN and 1,051 patients with ALS from major neuromuscular centers in Japan from 2005 to 2009. Diagnosis was based on the European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) and the revised El Escorial criteria. The efficacy of intravenous immunoglobulin (IVIg) was also taken into consideration in the diagnosis of MMN. The ratio of MMN to ALS patients (0-0.10) varied among the centers, but mostly converged to 0.05. The prevalence was estimated to be 0.29 MMN patients and 6.63 ALS patients per 100,000 population. The frequency of MMN patients was around 1 out of 20 ALS patients, and MMN was possibly underdiagnosed in some centers.","ja":"Our objective was to do an epidemiologic survey of patients with multifocal motor neuropathy (MMN) in comparison with those with amyotrophic lateral sclerosis (ALS) in Japan. In this retrospective study, we examined 46 patients with MMN and 1,051 patients with ALS from major neuromuscular centers in Japan from 2005 to 2009. Diagnosis was based on the European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) and the revised El Escorial criteria. The efficacy of intravenous immunoglobulin (IVIg) was also taken into consideration in the diagnosis of MMN. The ratio of MMN to ALS patients (0-0.10) varied among the centers, but mostly converged to 0.05. The prevalence was estimated to be 0.29 MMN patients and 6.63 ALS patients per 100,000 population. The frequency of MMN patients was around 1 out of 20 ALS patients, and MMN was possibly underdiagnosed in some centers."},"publication_date":"2014-03","publication_name":{"en":"Muscle & Nerve","ja":"Muscle & Nerve"},"volume":"Vol.49","number":"No.3","starting_page":"357","ending_page":"361","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1002/mus.23930"],"issn":["0148-639X"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/24577503","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=283977","label":"url"}],"paper_title":{"en":"MRI Can Detect Nigral Volume Loss in Patients with Parkinson's Disease: Evidence from a Meta-Analysis.","ja":"MRI Can Detect Nigral Volume Loss in Patients with Parkinson's Disease: Evidence from a Meta-Analysis."},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Murakami Nagahisa"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"佐光 亘"},{"name":"Murakami Nagahisa"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"Background: Parkinson's disease (PD) involves the degeneration of dopaminergic neurons in substantia nigra compacta. However, it is still a contentious issue whether magnetic resonance imaging (MRI) can detect the nigral volume loss in PD patients. Objective: We synthesized the results of published research on SN volumetry using a meta-analysis method in order to clarify this issue. Methods: A comprehensive literature search yielded 8 eligible studies. Nigral size was expressed as the standardized mean difference (SMD) between normal controls and PD patients. In addition, subgroup analysis was performed in order to identify the best condition for nigral volumetry. The proportion of variation due to heterogeneity was computed and expressed as I2. Results: Eight studies involved 172 normal control and 193 PD patients. The overall effect indicated that nigral volume in PD was significantly smaller than normal controls with homogeneous studies (SMD = -0.65, P < 0.0001; I2 = 47%). Maximum of subgroup effect was observed in 'volumetry' among three approaches ('thickness': SMD = -0.35, P = 0.18, I2 = not available; 'area': SMD = -0.39, P = 0.14, I2 = 0%; 'volumetry': SMD = -0.82, P = 0.0006, I2 = 56%). The approach including T1-weighted images (T1WI) showed larger effect ('with T1WI': SMD = -1.11, P < 0.00001, I2 = 36%; 'without T1WI': SMD = -0.32, P = 0.04, I2 = 0%). Conclusions: These findings suggest that volumetry based on T1WI could be the most sensitive option to identify nigral volume loss in PD patients.","ja":"Background: Parkinson's disease (PD) involves the degeneration of dopaminergic neurons in substantia nigra compacta. However, it is still a contentious issue whether magnetic resonance imaging (MRI) can detect the nigral volume loss in PD patients. Objective: We synthesized the results of published research on SN volumetry using a meta-analysis method in order to clarify this issue. Methods: A comprehensive literature search yielded 8 eligible studies. Nigral size was expressed as the standardized mean difference (SMD) between normal controls and PD patients. In addition, subgroup analysis was performed in order to identify the best condition for nigral volumetry. The proportion of variation due to heterogeneity was computed and expressed as I2. Results: Eight studies involved 172 normal control and 193 PD patients. The overall effect indicated that nigral volume in PD was significantly smaller than normal controls with homogeneous studies (SMD = -0.65, P < 0.0001; I2 = 47%). Maximum of subgroup effect was observed in 'volumetry' among three approaches ('thickness': SMD = -0.35, P = 0.18, I2 = not available; 'area': SMD = -0.39, P = 0.14, I2 = 0%; 'volumetry': SMD = -0.82, P = 0.0006, I2 = 56%). The approach including T1-weighted images (T1WI) showed larger effect ('with T1WI': SMD = -1.11, P < 0.00001, I2 = 36%; 'without T1WI': SMD = -0.32, P = 0.04, I2 = 0%). Conclusions: These findings suggest that volumetry based on T1WI could be the most sensitive option to identify nigral volume loss in PD patients."},"publication_date":"2014-02-27","publication_name":{"en":"Journal of Parkinson's Disease","ja":"Journal of Parkinson's Disease"},"languages":["eng"],"referee":true,"identifiers":{"doi":["10.3233/JPD-130332"],"issn":["1877-718X"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/24657162","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=284692","label":"url"}],"paper_title":{"en":"Thinning of cervical nerve roots and peripheral nerves in ALS as measured by sonography.","ja":"Thinning of cervical nerve roots and peripheral nerves in ALS as measured by sonography."},"authors":{"en":[{"name":"Nodera Hiroyuki"},{"name":"Takamatsu Naoko"},{"name":"Shimatani Yoshimitsu"},{"name":"Mori Atsuko"},{"name":"Sato Kenta"},{"name":"Oda Masaya"},{"name":"Terasawa Yuka"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"野寺 裕之"},{"name":"Takamatsu Naoko"},{"name":"島谷 佳光"},{"name":"Mori Atsuko"},{"name":"佐藤 健太"},{"name":"Oda Masaya"},{"name":"寺澤 由佳"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"Sonographic evaluation of nerve roots and peripheral nerves may be a useful disease marker in ALS to confirm the diagnosis and to potentially monitor the disease progression.","ja":"Sonographic evaluation of nerve roots and peripheral nerves may be a useful disease marker in ALS to confirm the diagnosis and to potentially monitor the disease progression."},"publication_date":"2014-02-24","publication_name":{"en":"Clinical Neurophysiology","ja":"Clinical Neurophysiology"},"volume":"Vol.125","number":"No.9","starting_page":"1906","ending_page":"1911","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.clinph.2014.01.033"],"issn":["1872-8952"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/114464","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/24600352","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84894260952&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=278918","label":"url"}],"paper_title":{"en":"A novel tyrosine kinase inhibitor AMN107 (nilotinib) normalizes striatal motor behaviors in a mouse model of Parkinson's disease.","ja":"A novel tyrosine kinase inhibitor AMN107 (nilotinib) normalizes striatal motor behaviors in a mouse model of Parkinson's disease."},"authors":{"en":[{"name":"Tanabe Akie"},{"name":"Yamamura Yukio"},{"name":"Kasahara Jiro"},{"name":"Morigaki Ryoma"},{"name":"Kaji Ryuji"},{"name":"Goto Satoshi"}],"ja":[{"name":"Tanabe Akie"},{"name":"Yamamura Yukio"},{"name":"笠原 二郎"},{"name":"森垣 龍馬"},{"name":"梶 龍兒"},{"name":"後藤 惠"}]},"description":{"en":"Abnormal motor behaviors in Parkinson's disease (PD) result from striatal dysfunction due to an imbalance between dopamine and glutamate transmissions that are integrated by dopamine- and cAMP-regulated phosphoprotein of 32 kDa (DARPP-32). c-Abelson tyrosine kinase (c-Abl) phosphorylates cyclin-dependent kinase 5 (Cdk5) at Tyr15 to increase the activity of Cdk5, which reduces the efficacy of dopaminergic signaling by phosphorylating DARPP-32 at Thr75 in the striatum. Here, we report that in the mouse striatum, a novel c-Abl inhibitor, nilotinib (AMN107), inhibits phosphorylation of both Cdk5 at Tyr15 and DARPP-32 at Thr75, which is negatively regulated by dopamine receptor activation through a D2 receptor-mediated mechanism. Like a D2-agonist, nilotinib synergizes with a D1-agonist for inducing striatal c-Fos expression. Moreover, systemic administration of nilotinib normalizes striatal motor behaviors in a mouse model of PD induced by 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine. These findings suggest that nilotinib could possibly serve as a new and alternative agent for treating PD motor symptoms.","ja":"Abnormal motor behaviors in Parkinson's disease (PD) result from striatal dysfunction due to an imbalance between dopamine and glutamate transmissions that are integrated by dopamine- and cAMP-regulated phosphoprotein of 32 kDa (DARPP-32). c-Abelson tyrosine kinase (c-Abl) phosphorylates cyclin-dependent kinase 5 (Cdk5) at Tyr15 to increase the activity of Cdk5, which reduces the efficacy of dopaminergic signaling by phosphorylating DARPP-32 at Thr75 in the striatum. Here, we report that in the mouse striatum, a novel c-Abl inhibitor, nilotinib (AMN107), inhibits phosphorylation of both Cdk5 at Tyr15 and DARPP-32 at Thr75, which is negatively regulated by dopamine receptor activation through a D2 receptor-mediated mechanism. Like a D2-agonist, nilotinib synergizes with a D1-agonist for inducing striatal c-Fos expression. Moreover, systemic administration of nilotinib normalizes striatal motor behaviors in a mouse model of PD induced by 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine. These findings suggest that nilotinib could possibly serve as a new and alternative agent for treating PD motor symptoms."},"publication_date":"2014-02-20","publication_name":{"en":"Frontiers in Cellular Neuroscience","ja":"Frontiers in Cellular Neuroscience"},"volume":"Vol.8","number":"No.50","languages":["eng"],"referee":true,"identifiers":{"doi":["10.3389/fncel.2014.00050"],"issn":["1662-5102"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/24535567","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84899031959&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=275582","label":"url"}],"paper_title":{"en":"Mutations in GNAL: A Novel Cause of Craniocervical Dystonia.","ja":"Mutations in GNAL: A Novel Cause of Craniocervical Dystonia."},"authors":{"en":[{"name":"Kumar Kishore R"},{"name":"Lohmann Katja"},{"name":"Masuho Ikuo"},{"name":"Miyamoto Ryosuke"},{"name":"Ferbert Andreas"},{"name":"Lohnau Thora"},{"name":"Kasten Meike"},{"name":"Hagenah Johann"},{"name":"Brüggemann Norbert"},{"name":"Graf Julia"},{"name":"Münchau Alexander"},{"name":"Kostic Vladimir S"},{"name":"Sue Carolyn M"},{"name":"Domingo Aloysius R"},{"name":"Rosales Raymond L"},{"name":"Lee Lilian V"},{"name":"Freimann Karen"},{"name":"Westenberger Ana"},{"name":"Mukai Youhei"},{"name":"Kawarai Toshitaka"},{"name":"Kaji Ryuji"},{"name":"Klein Christine"},{"name":"Martemyanov Kirill A"},{"name":"Schmidt Alexander"}],"ja":[{"name":"Kumar Kishore R"},{"name":"Lohmann Katja"},{"name":"Masuho Ikuo"},{"name":"Miyamoto Ryosuke"},{"name":"Ferbert Andreas"},{"name":"Lohnau Thora"},{"name":"Kasten Meike"},{"name":"Hagenah Johann"},{"name":"Brüggemann Norbert"},{"name":"Graf Julia"},{"name":"Münchau Alexander"},{"name":"Kostic Vladimir S"},{"name":"Sue Carolyn M"},{"name":"Domingo Aloysius R"},{"name":"Rosales Raymond L"},{"name":"Lee Lilian V"},{"name":"Freimann Karen"},{"name":"Westenberger Ana"},{"name":"Mukai Youhei"},{"name":"瓦井 俊孝"},{"name":"梶 龍兒"},{"name":"Klein Christine"},{"name":"Martemyanov Kirill A"},{"name":"Schmidt Alexander"}]},"description":{"en":"IMPORTANCE Mutations in the GNAL gene have recently been shown to cause primary torsion dystonia. The GNAL-encoded protein (Golf) is important for dopamine D1 receptor function and odorant signal transduction. We sequenced all 12 exons of GNAL in 461 patients from Germany, Serbia, and Japan, including 318 patients with dystonia (190 with cervical dystonia), 51 with hyposmia and Parkinson disease, and 92 with tardive dyskinesia or acute dystonic reactions. OBSERVATIONS We identified the following two novel heterozygous putative mutations in GNAL: p.Gly213Ser in a German patient and p.Ala353Thr in a Japanese patient. These variants were predicted to be pathogenic in silico, were absent in ethnically matched control individuals, and impaired Golf coupling to D1 receptors in a bioluminescence energy transfer (BRET) assay. Two additional variants appeared to be benign because they behaved like wild-type samples in the BRET assay (p.Ala311Thr) or were detected in ethnically matched controls (p.Thr92Ala). Both patients with likely pathogenic mutations had craniocervical dystonia with onset in the fifth decade of life. No pathogenic mutations were detected in the patients with hyposmia and Parkinson disease, tardive dyskinesias, or acute dystonic reactions. CONCLUSIONS AND RELEVANCE Mutations in GNAL can cause craniocervical dystonia in different ethnicities. The BRET assay may be a useful tool to support the pathogenicity of identified variants in the GNAL gene.","ja":"IMPORTANCE Mutations in the GNAL gene have recently been shown to cause primary torsion dystonia. The GNAL-encoded protein (Golf) is important for dopamine D1 receptor function and odorant signal transduction. We sequenced all 12 exons of GNAL in 461 patients from Germany, Serbia, and Japan, including 318 patients with dystonia (190 with cervical dystonia), 51 with hyposmia and Parkinson disease, and 92 with tardive dyskinesia or acute dystonic reactions. OBSERVATIONS We identified the following two novel heterozygous putative mutations in GNAL: p.Gly213Ser in a German patient and p.Ala353Thr in a Japanese patient. These variants were predicted to be pathogenic in silico, were absent in ethnically matched control individuals, and impaired Golf coupling to D1 receptors in a bioluminescence energy transfer (BRET) assay. Two additional variants appeared to be benign because they behaved like wild-type samples in the BRET assay (p.Ala311Thr) or were detected in ethnically matched controls (p.Thr92Ala). Both patients with likely pathogenic mutations had craniocervical dystonia with onset in the fifth decade of life. No pathogenic mutations were detected in the patients with hyposmia and Parkinson disease, tardive dyskinesias, or acute dystonic reactions. CONCLUSIONS AND RELEVANCE Mutations in GNAL can cause craniocervical dystonia in different ethnicities. The BRET assay may be a useful tool to support the pathogenicity of identified variants in the GNAL gene."},"publication_date":"2014-02-17","publication_name":{"en":"JAMA Neurology","ja":"JAMA Neurology"},"languages":["eng"],"referee":true,"identifiers":{"doi":["10.1001/jamaneurol.2013.4677"],"issn":["2168-6157"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/25300901","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84912121647&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=303999","label":"url"}],"paper_title":{"en":"Intra-arterial signal on arterial spin labeling perfusion MRI to identify the presence of acute middle cerebral artery occlusion","ja":"Intra-arterial signal on arterial spin labeling perfusion MRI to identify the presence of acute middle cerebral artery occlusion"},"authors":{"en":[{"name":"Tada Yoshiteru"},{"name":"Satomi Junichiro"},{"name":"Abe Takashi"},{"name":"Kuwayama Kazuyuki"},{"name":"Sogabe Shu"},{"name":"Fujita Koji"},{"name":"Yamamoto Nobuaki"},{"name":"Kaji Ryuji"},{"name":"Harada Masafumi"},{"name":"Nagahiro Shinji"}],"ja":[{"name":"多田 恵曜"},{"name":"里見 淳一郎"},{"name":"阿部 考志"},{"name":"桑山 一行"},{"name":"Sogabe Shu"},{"name":"藤田 浩司"},{"name":"山本 伸昭"},{"name":"梶 龍兒"},{"name":"原田 雅史"},{"name":"永廣 信治"}]},"description":{"en":"The susceptibility vessel sign on gradient echo-type-T2*-weighted imaging is a well-known marker of arterial occlusion. Stagnant flow in front of the middle cerebral artery (MCA) occlusion sites may contribute to the intra-arterial, high-intensity signal on arterial spin labeling magnetic resonance imaging (MRI), making it another potential marker of MCA occlusion. We compared the intra-arterial, high-intensity signal and susceptibility vessel sign in patients with symptomatic MCA occlusion and patients without major vessel occlusion. We identified transient ischemic attack or ischemic stroke patients with (1) 3-T MRI performed within 24 h after clinical onset including arterial spin labeling, T2*-weighted imaging, and magnetic resonance angiography (MRA) and (2) either having MCA occlusion (n = 34 patients) or without major vessel occlusion (n = 24 patients). The intra-arterial, high-intensity signal was defined as an enlarged circular or linear bright hyperintensity within the artery. The susceptibility vessel sign was defined as an enlarged spot of hypointensity within the MCA, in which the diameter of the hypointense signal within the vessel exceeded the contralateral vessel diameter. The presence or absence of the intra-arterial, high-intensity signal and susceptibility vessel sign were assessed, along with their inter-rater agreement and consistency with the presence of MCA occlusion on MRA. The intra-arterial, high-intensity signal was detectable in 30 patients (52%), and susceptibility vessel sign was observed in 17 patients (29%). The sensitivity of the intra-arterial high-intensity signal was significantly higher than that of the susceptibility vessel sign (88% vs. 50%; p < 0.05). The accuracy of the intra-arterial high-intensity signal was also higher than that of the susceptibility vessel sign (93% vs. 71%; p < 0.05). The intra-arterial high-intensity signal was situated in the proximal regions of the susceptibility vessel sign on T2*WI within the MCA. Neither the intra-arterial high-intensity signal nor the susceptibility vessel sign was observed in patients without major vessel occlusion. Inter-rater agreement was good for intra-arterial high-intensity signal detection (κ = 0.73) and moderate for susceptibility vessel sign detection (κ = 0.47). The presence or absence of the intra-arterial high-intensity signal was highly consistent with that of MCA occlusion on MRA (κ = 0.74). The intra-arterial high-intensity signal on arterial spin labeling appears to be useful to identify the presence of acute MCA occlusion and may be associated with stagnant flow in front of occlusion sites. The intra-arterial high-intensity signal may also be used to identify the occlusion site.","ja":"The susceptibility vessel sign on gradient echo-type-T2*-weighted imaging is a well-known marker of arterial occlusion. Stagnant flow in front of the middle cerebral artery (MCA) occlusion sites may contribute to the intra-arterial, high-intensity signal on arterial spin labeling magnetic resonance imaging (MRI), making it another potential marker of MCA occlusion. We compared the intra-arterial, high-intensity signal and susceptibility vessel sign in patients with symptomatic MCA occlusion and patients without major vessel occlusion. We identified transient ischemic attack or ischemic stroke patients with (1) 3-T MRI performed within 24 h after clinical onset including arterial spin labeling, T2*-weighted imaging, and magnetic resonance angiography (MRA) and (2) either having MCA occlusion (n = 34 patients) or without major vessel occlusion (n = 24 patients). The intra-arterial, high-intensity signal was defined as an enlarged circular or linear bright hyperintensity within the artery. The susceptibility vessel sign was defined as an enlarged spot of hypointensity within the MCA, in which the diameter of the hypointense signal within the vessel exceeded the contralateral vessel diameter. The presence or absence of the intra-arterial, high-intensity signal and susceptibility vessel sign were assessed, along with their inter-rater agreement and consistency with the presence of MCA occlusion on MRA. The intra-arterial, high-intensity signal was detectable in 30 patients (52%), and susceptibility vessel sign was observed in 17 patients (29%). The sensitivity of the intra-arterial high-intensity signal was significantly higher than that of the susceptibility vessel sign (88% vs. 50%; p < 0.05). The accuracy of the intra-arterial high-intensity signal was also higher than that of the susceptibility vessel sign (93% vs. 71%; p < 0.05). The intra-arterial high-intensity signal was situated in the proximal regions of the susceptibility vessel sign on T2*WI within the MCA. Neither the intra-arterial high-intensity signal nor the susceptibility vessel sign was observed in patients without major vessel occlusion. Inter-rater agreement was good for intra-arterial high-intensity signal detection (κ = 0.73) and moderate for susceptibility vessel sign detection (κ = 0.47). The presence or absence of the intra-arterial high-intensity signal was highly consistent with that of MCA occlusion on MRA (κ = 0.74). The intra-arterial high-intensity signal on arterial spin labeling appears to be useful to identify the presence of acute MCA occlusion and may be associated with stagnant flow in front of occlusion sites. The intra-arterial high-intensity signal may also be used to identify the occlusion site."},"publication_date":"2014-02-05","publication_name":{"en":"Cerebrovascular Diseases","ja":"Cerebrovascular Diseases"},"volume":"Vol.38","number":"No.3","starting_page":"191","ending_page":"196","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1159/000365653"],"issn":["1421-9786"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/24492738","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84897898031&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=303998","label":"url"}],"paper_title":{"en":"Longitudinal Monitoring with Multiple MR Techniques in a Case of Progressive Multifocal Leukoencephalopathy Associated with Multiple Myeloma","ja":"Longitudinal Monitoring with Multiple MR Techniques in a Case of Progressive Multifocal Leukoencephalopathy Associated with Multiple Myeloma"},"authors":{"en":[{"name":"Majigusuren Mungunkhuyag"},{"name":"Harada Masafumi"},{"name":"Abe Takashi"},{"name":"Fujita Koji"},{"name":"Matsui Naoko"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Majigusuren Mungunkhuyag"},{"name":"原田 雅史"},{"name":"阿部 考志"},{"name":"藤田 浩司"},{"name":"松井 尚子"},{"name":"梶 龍兒"}]},"description":{"en":"Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease of the brain caused by the JC virus in immunocompromised patients. We report characteristic features of proton MR spectroscopy, 3-dimensional pseudo-continuous arterial spin labeling imaging, and diffusion tensor imaging in a 53-year-old patient with PML. The utility of multi-modal magnetic resonance techniques for longitudinal monitoring was indicated by their reevaluation over time and consideration of their relation to prognosis.","ja":"Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease of the brain caused by the JC virus in immunocompromised patients. We report characteristic features of proton MR spectroscopy, 3-dimensional pseudo-continuous arterial spin labeling imaging, and diffusion tensor imaging in a 53-year-old patient with PML. The utility of multi-modal magnetic resonance techniques for longitudinal monitoring was indicated by their reevaluation over time and consideration of their relation to prognosis."},"publication_date":"2014-02-05","publication_name":{"en":"Magnetic Resonance in Medical Sciences","ja":"Magnetic Resonance in Medical Sciences"},"volume":"Vol.13","number":"No.1","starting_page":"55","ending_page":"59","languages":["eng"],"referee":true,"identifiers":{"doi":["10.2463/mrms.2013-0037"],"issn":["1880-2206"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/106136","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/24495439","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=283974","label":"url"}],"paper_title":{"en":"Comparison between botulinum neurotoxin type A2 and type A1 by electrophysiological study in healthy individuals.","ja":"Comparison between botulinum neurotoxin type A2 and type A1 by electrophysiological study in healthy individuals."},"authors":{"en":[{"name":"Mukai Yohei"},{"name":"Shimatani Yoshimitsu"},{"name":"Sako Wataru"},{"name":"Asanuma Kotaro"},{"name":"Nodera Hiroyuki"},{"name":"Sakamoto Takashi"},{"name":"Izumi Yuishin"},{"name":"Kohda Tomoko"},{"name":"Kozaki Shunji"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Mukai Yohei"},{"name":"島谷 佳光"},{"name":"佐光 亘"},{"name":"Asanuma Kotaro"},{"name":"野寺 裕之"},{"name":"Sakamoto Takashi"},{"name":"和泉 唯信"},{"name":"Kohda Tomoko"},{"name":"Kozaki Shunji"},{"name":"梶 龍兒"}]},"description":{"en":"Botulinum neurotoxin type A1 (BoNTs/A1) and type B (BoNT/B) have been used for treating hyperactive muscle contractions. In the present study, we compared the effect of botulinum neurotoxin subtype A2 (6.5 mouse LD50 units A2 neurotoxin, A2NTX) and onabotulinumtoxinA (10 mouse LD50 units BoNT/A1 product) by measuring the compound muscle action potentials (CMAPs) before and after administration. In total, 8 healthy subjects were examined in the present study. A2NTX was injected into the extensor digitorum brevis (EDB) muscle, followed by onabotulinumtoxinA injection into the contralateral EDB muscle after 16 weeks. The CMAP amplitudes from the EDB, abductor hallucis (AH), and abductor digiti minimi pedis (ADM) muscles were measured after each BoNT injection on days 1, 3, 7, 14, 28, 56, 84, and 112 to assess the effect of the toxin. On day 14, both A2NTX and onabotulinumtoxinA produced an approximately 70% decline in EDB CMAP amplitude compared to the baseline values; significant reduction of the CMAP continued through day 112. The CMAP amplitudes from neighboring muscles (AH and ADM) remained intact throughout the study period, except for a slight but significant drop at day 28 after onabotulinumtoxinA injection compared to A2NTX. The current findings indicate that small doses (6.5 units and 10 units) of A2NTX and onabotulinumtoxinA have at least comparable onset and duration of action, although similar clinical effects were obtained with lower dose using A2NTX.","ja":"Botulinum neurotoxin type A1 (BoNTs/A1) and type B (BoNT/B) have been used for treating hyperactive muscle contractions. In the present study, we compared the effect of botulinum neurotoxin subtype A2 (6.5 mouse LD50 units A2 neurotoxin, A2NTX) and onabotulinumtoxinA (10 mouse LD50 units BoNT/A1 product) by measuring the compound muscle action potentials (CMAPs) before and after administration. In total, 8 healthy subjects were examined in the present study. A2NTX was injected into the extensor digitorum brevis (EDB) muscle, followed by onabotulinumtoxinA injection into the contralateral EDB muscle after 16 weeks. The CMAP amplitudes from the EDB, abductor hallucis (AH), and abductor digiti minimi pedis (ADM) muscles were measured after each BoNT injection on days 1, 3, 7, 14, 28, 56, 84, and 112 to assess the effect of the toxin. On day 14, both A2NTX and onabotulinumtoxinA produced an approximately 70% decline in EDB CMAP amplitude compared to the baseline values; significant reduction of the CMAP continued through day 112. The CMAP amplitudes from neighboring muscles (AH and ADM) remained intact throughout the study period, except for a slight but significant drop at day 28 after onabotulinumtoxinA injection compared to A2NTX. The current findings indicate that small doses (6.5 units and 10 units) of A2NTX and onabotulinumtoxinA have at least comparable onset and duration of action, although similar clinical effects were obtained with lower dose using A2NTX."},"publication_date":"2014-02-01","publication_name":{"en":"Toxicon","ja":"Toxicon"},"volume":"Vol.81","starting_page":"32","ending_page":"36","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.toxicon.2013.12.012"],"issn":["1879-3150"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/109553","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/24705765","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84897951917&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=297866","label":"url"}],"paper_title":{"en":"Reversibility of ischemic findings on 3-tesla magnetic resonance T2(*)-weighted image after recanalization","ja":"Reversibility of ischemic findings on 3-tesla magnetic resonance T2(*)-weighted image after recanalization"},"authors":{"en":[{"name":"Yamamoto Nobuaki"},{"name":"Terasawa Yuka"},{"name":"Satomi Junichiro"},{"name":"Morigaki Ryoma"},{"name":"Fujita Koji"},{"name":"Izumi Yuishin"},{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"}],"ja":[{"name":"山本 伸昭"},{"name":"寺澤 由佳"},{"name":"里見 淳一郎"},{"name":"森垣 龍馬"},{"name":"藤田 浩司"},{"name":"和泉 唯信"},{"name":"永廣 信治"},{"name":"梶 龍兒"}]},"description":{"en":"Ischemic vessel signs (IVS) can be detected on 3-tesla T2(*)-weighted magnetic resonance images as a vessel enlargement at the territory of acute ischemia caused by major vessel occlusion or stenosis. Here, we studied changes in IVS before and after recanalization by the administration of intravenous recombinant tissue plasminogen activator (IV rtPA), carotid artery stenting or percutaneous transluminal angioplasty in patients with major vessel occlusion or stenosis. We performed magnetic resonance imaging for all patients treated by IV rtPA at the time of admission, shortly after and 24-72 hours after treatment with IV rtPA. We reviewed the IVS to assess its natural course of IVS by assessing patients who did not recanalize. IVS tended to disappear after recanalization. Conversely, in patients without recanalization, IVS did not disappear shortly after IV rtPA; rather, it disappeared 24-72 hours after IV rtPA, especially in the presence of complete infarction. Recanalization by IV rtPA or endovascular treatment contributed to improved clinical deficits or the prevention from further progression. IVS can be a parameter of misery perfusion and an important factor to detect the patients who have an indication of treatment for recanalization.","ja":"Ischemic vessel signs (IVS) can be detected on 3-tesla T2(*)-weighted magnetic resonance images as a vessel enlargement at the territory of acute ischemia caused by major vessel occlusion or stenosis. Here, we studied changes in IVS before and after recanalization by the administration of intravenous recombinant tissue plasminogen activator (IV rtPA), carotid artery stenting or percutaneous transluminal angioplasty in patients with major vessel occlusion or stenosis. We performed magnetic resonance imaging for all patients treated by IV rtPA at the time of admission, shortly after and 24-72 hours after treatment with IV rtPA. We reviewed the IVS to assess its natural course of IVS by assessing patients who did not recanalize. IVS tended to disappear after recanalization. Conversely, in patients without recanalization, IVS did not disappear shortly after IV rtPA; rather, it disappeared 24-72 hours after IV rtPA, especially in the presence of complete infarction. Recanalization by IV rtPA or endovascular treatment contributed to improved clinical deficits or the prevention from further progression. IVS can be a parameter of misery perfusion and an important factor to detect the patients who have an indication of treatment for recanalization."},"publication_date":"2014-02","publication_name":{"en":"The Journal of Medical Investigation : JMI","ja":"The Journal of Medical Investigation : JMI"},"volume":"Vol.61","number":"No.1,2","starting_page":"190","ending_page":"196","languages":["eng"],"referee":true,"identifiers":{"doi":["10.2152/jmi.61.190"],"issn":["1349-6867"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/23889540","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84892808067&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=283964","label":"url"}],"paper_title":{"en":"Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation","ja":"Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation"},"authors":{"en":[{"name":"Kamada Masaki"},{"name":"Izumi Yuishin"},{"name":"Ayaki T"},{"name":"Nakamura Masataka"},{"name":"Kagawa Seiko"},{"name":"Kudo Eiji"},{"name":"Sako Wataru"},{"name":"Maruyama Hirofumi"},{"name":"Nishida Y"},{"name":"Kawakami Hideshi"},{"name":"Ito Hidefumi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"鎌田 正紀"},{"name":"和泉 唯信"},{"name":"Ayaki T"},{"name":"Nakamura Masataka"},{"name":"香川 聖子"},{"name":"工藤 英治"},{"name":"佐光 亘"},{"name":"Maruyama Hirofumi"},{"name":"Nishida Y"},{"name":"Kawakami Hideshi"},{"name":"Ito Hidefumi"},{"name":"梶 龍兒"}]},"description":{"en":"We performed clinicopathological analyses of two amyotrophic lateral sclerosis (ALS) patients with homozygous Q398X optineurin (OPTN) mutation. Clinically, both patients presented signs of upper and lower motor neuron degeneration, but only Patient 1 showed gradual frontal dysfunction and extrapyramidal signs, and temporal lobe and motor cortex atrophy. Neuropathological examination of Patient 1 revealed extensive cortical and spinal motor neuron degeneration and widespread degeneration of the basal ganglia. Bilateral corticospinal tracts exhibited degeneration. Loss of spinal anterior horn cells (AHCs) and gliosis were observed, whereas posterior columns, Clarke's columns, intermediate lateral columns, and the Onuf's nucleus were spared. In the brainstem, moderate neuronal loss and gliosis were noted in the hypoglossal and facial motor nuclei. No Bunina bodies were found in the surviving spinal and brainstem motor neurons. Transactivation response (TAR) DNA-binding protein 43 (TDP-43)-positive neuronal and glial cytoplasmic inclusions were observed throughout the central nervous system. The Golgi apparatus in motor neurons of the brainstem and spinal cord was often fragmented. Immunoreactivity for OPTN was not observed in the brain and spinal cord, consistent with nonsense-mediated mRNA decay of OPTN. The TDP-43 pathology of Q398X was similar to that of an autosomal dominant E478G mutation. This result suggests that the loss-of-function, but not the proteinopathy itself, of OPTN results in TDP-43 deposits in neuronal and glial cytoplasm and Golgi apparatus fragmentation, leading to multisystem neurodegeneration.","ja":"We performed clinicopathological analyses of two amyotrophic lateral sclerosis (ALS) patients with homozygous Q398X optineurin (OPTN) mutation. Clinically, both patients presented signs of upper and lower motor neuron degeneration, but only Patient 1 showed gradual frontal dysfunction and extrapyramidal signs, and temporal lobe and motor cortex atrophy. Neuropathological examination of Patient 1 revealed extensive cortical and spinal motor neuron degeneration and widespread degeneration of the basal ganglia. Bilateral corticospinal tracts exhibited degeneration. Loss of spinal anterior horn cells (AHCs) and gliosis were observed, whereas posterior columns, Clarke's columns, intermediate lateral columns, and the Onuf's nucleus were spared. In the brainstem, moderate neuronal loss and gliosis were noted in the hypoglossal and facial motor nuclei. No Bunina bodies were found in the surviving spinal and brainstem motor neurons. Transactivation response (TAR) DNA-binding protein 43 (TDP-43)-positive neuronal and glial cytoplasmic inclusions were observed throughout the central nervous system. The Golgi apparatus in motor neurons of the brainstem and spinal cord was often fragmented. Immunoreactivity for OPTN was not observed in the brain and spinal cord, consistent with nonsense-mediated mRNA decay of OPTN. The TDP-43 pathology of Q398X was similar to that of an autosomal dominant E478G mutation. This result suggests that the loss-of-function, but not the proteinopathy itself, of OPTN results in TDP-43 deposits in neuronal and glial cytoplasm and Golgi apparatus fragmentation, leading to multisystem neurodegeneration."},"publication_date":"2014-02","publication_name":{"en":"Neuropathology","ja":"Neuropathology"},"volume":"Vol.34","number":"No.1","starting_page":"64","ending_page":"70","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1111/neup.12051"],"issn":["1440-1789"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/24556356","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84896393117&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=285940","label":"url"}],"paper_title":{"en":"Increased number of Hassall's corpuscles in myasthenia gravis patients with thymic hyperplasia.","ja":"Increased number of Hassall's corpuscles in myasthenia gravis patients with thymic hyperplasia."},"authors":{"en":[{"name":"Matsui Naoko"},{"name":"Ohigashi Izumi"},{"name":"Tanaka Keijirou"},{"name":"Sakata Mie"},{"name":"Furukawa Takahiro"},{"name":"Nakagawa Yasushi"},{"name":"Kondo Kazuya"},{"name":"Kitagawa Tetsuya"},{"name":"Yamashita Sumimasa"},{"name":"Nomura Yoshiko"},{"name":"Takahama Yousuke"},{"name":"Kaji Ryuji"}],"ja":[{"name":"松井 尚子"},{"name":"大東 いずみ"},{"name":"Tanaka Keijirou"},{"name":"Sakata Mie"},{"name":"Furukawa Takahiro"},{"name":"中川 靖士"},{"name":"近藤 和也"},{"name":"北川 哲也"},{"name":"Yamashita Sumimasa"},{"name":"Nomura Yoshiko"},{"name":"高浜 洋介"},{"name":"梶 龍兒"}]},"description":{"en":"The thymus is implicated as an organ that contributes to autoimmunity in myasthenia gravis (MG) patients. Hassall's corpuscles (HCs) are assumed to represent the terminally differentiated stage of medullary thymic epithelial cells (mTECs). By using multicolor immunohistofluorescence analysis, we examined HCs in thymuses that were therapeutically excised from MG (+) and MG (-) patients. We found that the number of HCs per unit area of the thymic medulla was significantly elevated in the thymuses of MG (+) patients with thymic hyperplasia. CCL21 expression increased in the hyperplastic MG thymuses. We speculate that the altered differentiation of mTECs is associated with the thymic hyperplasia and the onset of MG.","ja":"The thymus is implicated as an organ that contributes to autoimmunity in myasthenia gravis (MG) patients. Hassall's corpuscles (HCs) are assumed to represent the terminally differentiated stage of medullary thymic epithelial cells (mTECs). By using multicolor immunohistofluorescence analysis, we examined HCs in thymuses that were therapeutically excised from MG (+) and MG (-) patients. We found that the number of HCs per unit area of the thymic medulla was significantly elevated in the thymuses of MG (+) patients with thymic hyperplasia. CCL21 expression increased in the hyperplastic MG thymuses. We speculate that the altered differentiation of mTECs is associated with the thymic hyperplasia and the onset of MG."},"publication_date":"2014-01-28","publication_name":{"en":"Journal of Neuroimmunology","ja":"Journal of Neuroimmunology"},"volume":"Vol.269","number":"No.1-2","starting_page":"56","ending_page":"61","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.jneuroim.2014.01.011"],"issn":["1872-8421"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/24444854","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84905592244&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=283973","label":"url"}],"paper_title":{"en":"Which target is best for patients with Parkinson's disease? A meta-analysis of pallidal and subthalamic stimulation.","ja":"Which target is best for patients with Parkinson's disease? A meta-analysis of pallidal and subthalamic stimulation."},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Miyazaki Yoshimichi"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"佐光 亘"},{"name":"宮﨑 由道"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"The effect of GPi DBS was similar to STN DBS except for depression, however, only three studies described depression as adverse events. We need additional randomised trials with direct comparison between targets based on unified scoring of adverse events.","ja":"The effect of GPi DBS was similar to STN DBS except for depression, however, only three studies described depression as adverse events. We need additional randomised trials with direct comparison between targets based on unified scoring of adverse events."},"publication_date":"2014-01-20","publication_name":{"en":"Journal of Neurology, Neurosurgery, and Psychiatry","ja":"Journal of Neurology, Neurosurgery, and Psychiatry"},"volume":"Vol.85","number":"No.9","starting_page":"982","ending_page":"986","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1136/jnnp-2013-306090"],"issn":["1468-330X"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/24172577","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85027928664&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=279526","label":"url"}],"paper_title":{"en":"Brush sign on 3-T t2*-weighted MRI as a potential predictor of hemorrhagic transformation after tissue plasminogen activator therapy","ja":"Brush sign on 3-T t2*-weighted MRI as a potential predictor of hemorrhagic transformation after tissue plasminogen activator therapy"},"authors":{"en":[{"name":"Terasawa Yuka"},{"name":"Yamamoto Nobuaki"},{"name":"Morigaki Ryoma"},{"name":"Fujita Koji"},{"name":"Izumi Yuishin"},{"name":"Satomi Junichiro"},{"name":"Harada Masafumi"},{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"}],"ja":[{"name":"寺澤 由佳"},{"name":"山本 伸昭"},{"name":"森垣 龍馬"},{"name":"藤田 浩司"},{"name":"和泉 唯信"},{"name":"里見 淳一郎"},{"name":"原田 雅史"},{"name":"永廣 信治"},{"name":"梶 龍兒"}]},"description":{"en":"The brush sign (BS) is the enlargement of medullary veins on 3-T T2*-weighted MRI seen in patients with ischemic stroke because of major cerebral artery occlusion. However, the clinical relevance of BS in patients with acute stroke remains unclear. We assessed the correlation between detecting BS with the development of hemorrhagic transformation after intravenous thrombolysis. We enrolled consecutive patients with M1 or M2 occlusion treated with intravenous tissue plasminogen activator. We classified the patients into 2 groups: the group positive for BS (P-BS) and the group negative for BS (N-BS). We investigated the differences in MRI findings and the clinical outcome between the 2 groups. The subjects consisted of 36 patients (19 men; mean age, 74.7 years). Twenty-one patients (58%) had M1 occlusion, and 15 (42%) had M2 occlusion. Twenty-five patients (69%) were classified into the P-BS group and 11 (31%) into the N-BS group. Recanalization was observed in 15 (60%) and 10 (90%) patients in the P-BS and N-BS groups, respectively (P=0.116). Hemorrhagic transformation on MRI was observed more frequently in the P-BS group than in the N-BS group (64% versus 18%; P=0.027). A good outcome (mRS, 0-1) at discharge was found in 24% of patients in the P-BS group and in 45% of patients in the N-BS group (P=0.152). A multivariate logistic regression analysis revealed that the presence of BS (odds ratio, 9.08; 95% confidence interval, 1.4-59.8; P=0.022) was independently associated with hemorrhagic transformation. BS may predict the development of hemorrhagic transformation in patients with acute stroke treated with intravenous tissue plasminogen activator.","ja":"The brush sign (BS) is the enlargement of medullary veins on 3-T T2*-weighted MRI seen in patients with ischemic stroke because of major cerebral artery occlusion. However, the clinical relevance of BS in patients with acute stroke remains unclear. We assessed the correlation between detecting BS with the development of hemorrhagic transformation after intravenous thrombolysis. We enrolled consecutive patients with M1 or M2 occlusion treated with intravenous tissue plasminogen activator. We classified the patients into 2 groups: the group positive for BS (P-BS) and the group negative for BS (N-BS). We investigated the differences in MRI findings and the clinical outcome between the 2 groups. The subjects consisted of 36 patients (19 men; mean age, 74.7 years). Twenty-one patients (58%) had M1 occlusion, and 15 (42%) had M2 occlusion. Twenty-five patients (69%) were classified into the P-BS group and 11 (31%) into the N-BS group. Recanalization was observed in 15 (60%) and 10 (90%) patients in the P-BS and N-BS groups, respectively (P=0.116). Hemorrhagic transformation on MRI was observed more frequently in the P-BS group than in the N-BS group (64% versus 18%; P=0.027). A good outcome (mRS, 0-1) at discharge was found in 24% of patients in the P-BS group and in 45% of patients in the N-BS group (P=0.152). A multivariate logistic regression analysis revealed that the presence of BS (odds ratio, 9.08; 95% confidence interval, 1.4-59.8; P=0.022) was independently associated with hemorrhagic transformation. BS may predict the development of hemorrhagic transformation in patients with acute stroke treated with intravenous tissue plasminogen activator."},"publication_date":"2014-01","publication_name":{"en":"Stroke","ja":"Stroke"},"volume":"Vol.45","number":"No.1","starting_page":"274","ending_page":"276","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1161/STROKEAHA.113.002640"],"issn":["1524-4628"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"http://id.ndl.go.jp/bib/027694123","label":"url"},{"@id":"https://cir.nii.ac.jp/crid/1520290884129170304/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=296832","label":"url"}],"paper_title":{"en":"X-linked dystonia-parkinsonismのニューロペプチドYシステム","ja":"X-linked dystonia-parkinsonismのニューロペプチドYシステム"},"authors":{"en":[{"name":"Morigaki Ryoma"},{"name":"Kawarai Toshitaka"},{"name":"Ohkita Shinya"},{"name":"Mure Hideo"},{"name":"小泉 英貴"},{"name":"Mizobuchi Yoshifumi"},{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"},{"name":"Goto Satoshi"}],"ja":[{"name":"森垣 龍馬"},{"name":"瓦井 俊孝"},{"name":"大北 真哉"},{"name":"牟礼 英生"},{"name":"小泉 英貴"},{"name":"溝渕 佳史"},{"name":"永廣 信治"},{"name":"梶 龍兒"},{"name":"後藤 惠"}]},"publication_date":"2014","publication_name":{"en":"Functional Neurosurgery","ja":"機能的脳神経外科"},"volume":"Vol.53","starting_page":"47","ending_page":"55","languages":["jpn"],"referee":true,"identifiers":{"issn":["1344-9699"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/24482655","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=304028","label":"url"}],"paper_title":{"en":"FK506 attenuates thymic output in patients with myasthenia gravis","ja":"FK506 attenuates thymic output in patients with myasthenia gravis"},"authors":{"en":[{"name":"Mitsui Takao"},{"name":"Kuroda Yukiko"},{"name":"Ueono Shu-ichi"},{"name":"Matsui Naoko"},{"name":"Kaji Ryuji"}],"ja":[{"name":"三ツ井 貴夫"},{"name":"Kuroda Yukiko"},{"name":"Ueono Shu-ichi"},{"name":"松井 尚子"},{"name":"梶 龍兒"}]},"description":{"en":"Myasthenia gravis (MG) is an antibody-mediated, T-cell-dependent autoimmune disease. The symptoms are caused by high-affinity IgG against the muscle acetylcholine receptor (AChR) at the neuromuscular junction. The production of these antibodies in B-cells depends on AChR-specific CD4(+) T-cells and the thymus gland seems to play a significant role in the pathogenesis of MG. Altered thymic T-cell export seems to be associated with a pathological mechanism in myasthenia gravis. Tacrolimus (FK506) has recently been used to treat MG. We examined the effects of tacrolimus on thymic T-cell export in patients with MG. Sixteen patients with nonthymomatous and/or thymectomized MG were treated with oral administrations of tacrolimus. To assess the effect of tacrolimus on the thymic output, we assayed the levels of T-cell receptor excision circle (TREC), a molecular marker of thymus emigrants. T-cell receptor excision circle was not significantly different from those in age-matched controls before tacrolimus therapy, but they were partially decreased 4 months after tacrolimus therapy. T-cell receptor excision circle levels were significantly decreased in the thymomatous group (p < 0.05), but not in the nonthymomatous group. Tacrolimus treatment significantly attenuated TREC levels in cultured CD4(-)CD8(+) cells (p < 0.05), but total cell counts were not significantly changed. These results indicate that TREC levels may become a marker of the curative effect of tacrolimus therapy for thymomatous MG, and that tacrolimus suppresses not only activating T-lymphocytes, but also naïve T-cells.","ja":"Myasthenia gravis (MG) is an antibody-mediated, T-cell-dependent autoimmune disease. The symptoms are caused by high-affinity IgG against the muscle acetylcholine receptor (AChR) at the neuromuscular junction. The production of these antibodies in B-cells depends on AChR-specific CD4(+) T-cells and the thymus gland seems to play a significant role in the pathogenesis of MG. Altered thymic T-cell export seems to be associated with a pathological mechanism in myasthenia gravis. Tacrolimus (FK506) has recently been used to treat MG. We examined the effects of tacrolimus on thymic T-cell export in patients with MG. Sixteen patients with nonthymomatous and/or thymectomized MG were treated with oral administrations of tacrolimus. To assess the effect of tacrolimus on the thymic output, we assayed the levels of T-cell receptor excision circle (TREC), a molecular marker of thymus emigrants. T-cell receptor excision circle was not significantly different from those in age-matched controls before tacrolimus therapy, but they were partially decreased 4 months after tacrolimus therapy. T-cell receptor excision circle levels were significantly decreased in the thymomatous group (p < 0.05), but not in the nonthymomatous group. Tacrolimus treatment significantly attenuated TREC levels in cultured CD4(-)CD8(+) cells (p < 0.05), but total cell counts were not significantly changed. These results indicate that TREC levels may become a marker of the curative effect of tacrolimus therapy for thymomatous MG, and that tacrolimus suppresses not only activating T-lymphocytes, but also naïve T-cells."},"publication_date":"2013-12-26","publication_name":{"en":"Archives of Medical Science : AMS","ja":"Archives of Medical Science : AMS"},"volume":"Vol.9","number":"No.6","starting_page":"1090","ending_page":"1096","languages":["eng"],"referee":true,"identifiers":{"doi":["10.5114/aoms.2013.39797"],"issn":["1734-1922"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/24332946","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=297999","label":"url"}],"paper_title":{"en":"Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia.","ja":"Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia."},"authors":{"en":[{"name":"Miyamoto Ryosuke"},{"name":"Morino Hiroyuki"},{"name":"Yoshizawa Akio"},{"name":"Miyazaki Yoshimichi"},{"name":"Maruyama Hirofumi"},{"name":"Murakami Nagahisa"},{"name":"Fukada Kei"},{"name":"Izumi Yuishin"},{"name":"Matsuura Shinya"},{"name":"Kaji Ryuji"},{"name":"Kawakami Hideshi"}],"ja":[{"name":"Miyamoto Ryosuke"},{"name":"Morino Hiroyuki"},{"name":"Yoshizawa Akio"},{"name":"宮﨑 由道"},{"name":"Maruyama Hirofumi"},{"name":"Murakami Nagahisa"},{"name":"Fukada Kei"},{"name":"和泉 唯信"},{"name":"Matsuura Shinya"},{"name":"梶 龍兒"},{"name":"Kawakami Hideshi"}]},"description":{"en":"Progressive myoclonic ataxia (PMA) is a clinical syndrome defined as progressive ataxia and myoclonus and infrequent seizures in the absence of progressive dementia. Due to the extremely heterogeneous nature of PMA, a large proportion of PMA cases remain molecularly undiagnosed. The aim of this study was to clarify the molecular etiology of PMA. The patient was a 52-year-old female from consanguineous parents. She developed a jerking neck movement at age 9, which gradually expanded to her entire body. On physical examination at age 47, she exhibited generalized, spontaneous myoclonus that occurred continuously. She also presented with mild limb and truncal ataxia. An electroencephalogram revealed no abnormalities. A brain MRI displayed no atrophy of the cerebellum. Electrophysiological studies suggested myoclonus of a subcortical origin. For further evaluation, we performed exome sequencing, and we identified a novel homozygous missense mutation in the MRE11 gene (NM_005590:c.140C>T:p.A47V). Subsequently, we analyzed the expression of MRE11 and related proteins (RAD50 and NBS1) via Western blot, and they were markedly decreased compared to a healthy control. Mutations in the MRE11 gene have been known to cause an ataxia-telangiectasia-like (ATLD) disorder. Accumulating evidence has indicated that its wide phenotypic variations in ATLD correspond to genotypic differences. Interestingly, our case exhibited a relatively mild decrease in NBS1 compared to previously reported cases of a homozygous missense mutation, which may account for the milder phenotype in this patient. Moreover, together with a recently reported case of an MRE11 mutation, it is suggested that MRE11 mutations can present as PMA.","ja":"Progressive myoclonic ataxia (PMA) is a clinical syndrome defined as progressive ataxia and myoclonus and infrequent seizures in the absence of progressive dementia. Due to the extremely heterogeneous nature of PMA, a large proportion of PMA cases remain molecularly undiagnosed. The aim of this study was to clarify the molecular etiology of PMA. The patient was a 52-year-old female from consanguineous parents. She developed a jerking neck movement at age 9, which gradually expanded to her entire body. On physical examination at age 47, she exhibited generalized, spontaneous myoclonus that occurred continuously. She also presented with mild limb and truncal ataxia. An electroencephalogram revealed no abnormalities. A brain MRI displayed no atrophy of the cerebellum. Electrophysiological studies suggested myoclonus of a subcortical origin. For further evaluation, we performed exome sequencing, and we identified a novel homozygous missense mutation in the MRE11 gene (NM_005590:c.140C>T:p.A47V). Subsequently, we analyzed the expression of MRE11 and related proteins (RAD50 and NBS1) via Western blot, and they were markedly decreased compared to a healthy control. Mutations in the MRE11 gene have been known to cause an ataxia-telangiectasia-like (ATLD) disorder. Accumulating evidence has indicated that its wide phenotypic variations in ATLD correspond to genotypic differences. Interestingly, our case exhibited a relatively mild decrease in NBS1 compared to previously reported cases of a homozygous missense mutation, which may account for the milder phenotype in this patient. Moreover, together with a recently reported case of an MRE11 mutation, it is suggested that MRE11 mutations can present as PMA."},"publication_date":"2013-12-01","publication_name":{"en":"Journal of the Neurological Sciences","ja":"Journal of the Neurological Sciences"},"volume":"Vol.337","number":"No.1-2","starting_page":"219","ending_page":"223","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.jns.2013.11.032"],"issn":["1878-5883"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/24219883","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=303978","label":"url"}],"paper_title":{"en":"Increased interleukin-17 in the cerebrospinal fluid in sporadic Creutzfeldt-Jakob disease: a case-control study of rapidly progressive dementia","ja":"Increased interleukin-17 in the cerebrospinal fluid in sporadic Creutzfeldt-Jakob disease: a case-control study of rapidly progressive dementia"},"authors":{"en":[{"name":"Fujita Koji"},{"name":"Matsui Naoko"},{"name":"Takahashi Yukitoshi"},{"name":"Iwasaki Yasushi"},{"name":"Yoshida Mari"},{"name":"Yuasa Tatsuhiko"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"藤田 浩司"},{"name":"松井 尚子"},{"name":"Takahashi Yukitoshi"},{"name":"Iwasaki Yasushi"},{"name":"Yoshida Mari"},{"name":"Yuasa Tatsuhiko"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"Inflammatory responses in the cerebrospinal fluid (CSF) of patients with sporadic Creutzfeldt-Jakob disease (sCJD) remain elusive. We conducted a case-control study, in which 14 patients with sCJD, 14 with noninflammatory neurological disorders, and 14 with autoimmune encephalitis were enrolled. We used the suspension array system to measure the concentrations of 27 cytokines in CSF. The cytokine titers of the three groups were compared, and the correlation between the relevant cytokine titers and clinical parameters was investigated in the patients with sCJD. Levels of the two cytokines interleukin (IL)-1 receptor antagonist and IL-17 were significantly elevated in the patients with sCJD compared with those in the patients with noninflammatory neurological disorders: IL-17 levels in sCJD were approximately ten times higher than in the noninflammatory neurological disorders (mean, 35.46 vs. 3.45 pg/ml; P < 0.001) but comparable to that in encephalitis (mean, 32.16 pg/ml). In contrast, levels of classical proinflammatory cytokines such as IL-12(p70) and tumor necrosis factor-α were increased only in encephalitis. Although not significant, IL-17 titers tended to be higher in the patients with shorter disease duration before CSF sampling (r = -0.452; P = 0.104) and in those with lower CSF total protein concentrations (r = -0.473; P = 0.086). IL-17 is significantly increased in CSF in sCJD, which can be an early event in the pathogenesis of sCJD.","ja":"Inflammatory responses in the cerebrospinal fluid (CSF) of patients with sporadic Creutzfeldt-Jakob disease (sCJD) remain elusive. We conducted a case-control study, in which 14 patients with sCJD, 14 with noninflammatory neurological disorders, and 14 with autoimmune encephalitis were enrolled. We used the suspension array system to measure the concentrations of 27 cytokines in CSF. The cytokine titers of the three groups were compared, and the correlation between the relevant cytokine titers and clinical parameters was investigated in the patients with sCJD. Levels of the two cytokines interleukin (IL)-1 receptor antagonist and IL-17 were significantly elevated in the patients with sCJD compared with those in the patients with noninflammatory neurological disorders: IL-17 levels in sCJD were approximately ten times higher than in the noninflammatory neurological disorders (mean, 35.46 vs. 3.45 pg/ml; P < 0.001) but comparable to that in encephalitis (mean, 32.16 pg/ml). In contrast, levels of classical proinflammatory cytokines such as IL-12(p70) and tumor necrosis factor-α were increased only in encephalitis. Although not significant, IL-17 titers tended to be higher in the patients with shorter disease duration before CSF sampling (r = -0.452; P = 0.104) and in those with lower CSF total protein concentrations (r = -0.473; P = 0.086). IL-17 is significantly increased in CSF in sCJD, which can be an early event in the pathogenesis of sCJD."},"publication_date":"2013-11-13","publication_name":{"en":"Journal of Neuroinflammation","ja":"Journal of Neuroinflammation"},"volume":"Vol.10","starting_page":"135","ending_page":"135","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1186/1742-2094-10-135"],"issn":["1742-2094"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/24094860","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=272606","label":"url"}],"paper_title":{"en":"Increasing and persistent DWI changes in a patient with Hereditary Diffuse Leukoencephalopathy with Spheroids.","ja":"Increasing and persistent DWI changes in a patient with Hereditary Diffuse Leukoencephalopathy with Spheroids."},"authors":{"en":[{"name":"Terasawa Yuka"},{"name":"Osaki Yusuke"},{"name":"Kawarai Toshitaka"},{"name":"Sugimoto Tatsurou"},{"name":"Orlacchio Antonio"},{"name":"Abe Takashi"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"寺澤 由佳"},{"name":"大崎 裕亮"},{"name":"瓦井 俊孝"},{"name":"杉本 達朗"},{"name":"Orlacchio Antonio"},{"name":"阿部 考志"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"We report a case with genetically confirmed hereditary diffuse leukoencephalopathy with spheroids with distinctive MRI features. A 52-year-old woman with a family history of juvenile dementia presented with an 18-month history of progressive cognitive decline. Longitudinal magnetic resonance imaging studies of the brain revealed increasing and persistent white matter hyperintensities on diffusion-weighted images. Linear high intensity signal along axonal fibers arisen from the cerebral cortex was also shown. Finding of subcortical calcifications was noted on brain CT scan. Sequence analysis of CSF1R showed a novel missense mutation c.2467C>T (p.Ala823Val). Persistent and increasing diffusion on magnetic resonance image, presumably reflecting intramyelinic oedema in regions of neurodegeneration, is a distinctive feature observed in this case. The presence of this unique finding can be a diagnostic clue in the early stage of the disease.","ja":"We report a case with genetically confirmed hereditary diffuse leukoencephalopathy with spheroids with distinctive MRI features. A 52-year-old woman with a family history of juvenile dementia presented with an 18-month history of progressive cognitive decline. Longitudinal magnetic resonance imaging studies of the brain revealed increasing and persistent white matter hyperintensities on diffusion-weighted images. Linear high intensity signal along axonal fibers arisen from the cerebral cortex was also shown. Finding of subcortical calcifications was noted on brain CT scan. Sequence analysis of CSF1R showed a novel missense mutation c.2467C>T (p.Ala823Val). Persistent and increasing diffusion on magnetic resonance image, presumably reflecting intramyelinic oedema in regions of neurodegeneration, is a distinctive feature observed in this case. The presence of this unique finding can be a diagnostic clue in the early stage of the disease."},"publication_date":"2013-08-30","publication_name":{"en":"Journal of the Neurological Sciences","ja":"Journal of the Neurological Sciences"},"languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.jns.2013.08.027"],"issn":["1878-5883"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/23715915","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=303977","label":"url"}],"paper_title":{"en":"Successful treatment of stiff person syndrome with sequential use of tacrolimus","ja":"Successful treatment of stiff person syndrome with sequential use of tacrolimus"},"authors":{"en":[{"name":"Nakane Syunya"},{"name":"Fujita Koji"},{"name":"Shibuta Yoshiko"},{"name":"Matsui Naoko"},{"name":"Harada Masafumi"},{"name":"Urushihara Ryo"},{"name":"Nishida Yoshihiko"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Nakane Syunya"},{"name":"藤田 浩司"},{"name":"Shibuta Yoshiko"},{"name":"松井 尚子"},{"name":"原田 雅史"},{"name":"Urushihara Ryo"},{"name":"Nishida Yoshihiko"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"publication_date":"2013-05-28","publication_name":{"en":"Journal of Neurology, Neurosurgery, and Psychiatry","ja":"Journal of Neurology, Neurosurgery, and Psychiatry"},"volume":"Vol.84","number":"No.10","starting_page":"1177","ending_page":"1180","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1136/jnnp-2013-305425"],"issn":["1468-330X"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/23599389","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=262449","label":"url"}],"paper_title":{"en":"Defects in the striatal neuropeptide Y system in X-linked dystonia-parkinsonism.","ja":"Defects in the striatal neuropeptide Y system in X-linked dystonia-parkinsonism."},"authors":{"en":[{"name":"Goto Satoshi"},{"name":"Kawarai Toshitaka"},{"name":"Morigaki Ryoma"},{"name":"Okita Shinya"},{"name":"Koizumi Hidetaka"},{"name":"Nagahiro Shinji"},{"name":"Munoz Edwin L"},{"name":"Lee Lillian V"},{"name":"Kaji Ryuji"}],"ja":[{"name":"後藤 惠"},{"name":"瓦井 俊孝"},{"name":"森垣 龍馬"},{"name":"Okita Shinya"},{"name":"Koizumi Hidetaka"},{"name":"永廣 信治"},{"name":"Munoz Edwin L"},{"name":"Lee Lillian V"},{"name":"梶 龍兒"}]},"description":{"en":"Neuropeptide Y is a novel bioactive substance that plays a role in the modulation of neurogenesis and neurotransmitter release, and thereby exerts a protective influence against neurodegeneration. Using a sensitive immunohistochemical method with a tyramide signal amplification protocol, we performed a post-mortem analysis to determine the striatal localization profile of neuropeptide Y in neurologically normal individuals and in patients with X-linked dystonia-parkinsonism, a major representative of the neurodegenerative diseases that primarily involve the striatum. All of the patients examined were genetically verified as having X-linked dystonia-parkinsonism. In normal individuals, we found a scattered distribution of neuropeptide Y-positive neurons and numerous nerve fibres labelled for neuropeptide Y in the striatum. Of particular interest was a differential localization of neuropeptide Y immunoreactivity in the striatal compartments, with a heightened density of neuropeptide Y labelling in the matrix compartment relative to the striosomes. In patients with X-linked dystonia-parkinsonism, we found a significant decrease in the number of neuropeptide Y-positive cells accompanied by a marked loss of their nerve fibres in the caudate nucleus and putamen. The patients with X-linked dystonia-parkinsonism also showed a lack of neuropeptide Y labelling in the subventricular zone, where a marked loss of progenitor cells that express proliferating cell nuclear antigen was found. Our results indicate a neostriatal defect of the neuropeptide Y system in patients with X-linked dystonia-parkinsonism, suggesting its possible implication in the mechanism by which a progressive loss of striatal neurons occurs in X-linked dystonia-parkinsonism.","ja":"Neuropeptide Y is a novel bioactive substance that plays a role in the modulation of neurogenesis and neurotransmitter release, and thereby exerts a protective influence against neurodegeneration. Using a sensitive immunohistochemical method with a tyramide signal amplification protocol, we performed a post-mortem analysis to determine the striatal localization profile of neuropeptide Y in neurologically normal individuals and in patients with X-linked dystonia-parkinsonism, a major representative of the neurodegenerative diseases that primarily involve the striatum. All of the patients examined were genetically verified as having X-linked dystonia-parkinsonism. In normal individuals, we found a scattered distribution of neuropeptide Y-positive neurons and numerous nerve fibres labelled for neuropeptide Y in the striatum. Of particular interest was a differential localization of neuropeptide Y immunoreactivity in the striatal compartments, with a heightened density of neuropeptide Y labelling in the matrix compartment relative to the striosomes. In patients with X-linked dystonia-parkinsonism, we found a significant decrease in the number of neuropeptide Y-positive cells accompanied by a marked loss of their nerve fibres in the caudate nucleus and putamen. The patients with X-linked dystonia-parkinsonism also showed a lack of neuropeptide Y labelling in the subventricular zone, where a marked loss of progenitor cells that express proliferating cell nuclear antigen was found. Our results indicate a neostriatal defect of the neuropeptide Y system in patients with X-linked dystonia-parkinsonism, suggesting its possible implication in the mechanism by which a progressive loss of striatal neurons occurs in X-linked dystonia-parkinsonism."},"publication_date":"2013-04-18","publication_name":{"en":"Brain","ja":"Brain"},"volume":"Vol.136","number":"No.Pt 5","starting_page":"1555","ending_page":"1567","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1093/brain/awt084"],"issn":["1460-2156"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/23229844","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84879685246&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=279519","label":"url"}],"paper_title":{"en":"Frequency of emerging positive diffusion-weighted imaging in early repeat examinations at least 24 h after transient ischemic attacks","ja":"Frequency of emerging positive diffusion-weighted imaging in early repeat examinations at least 24 h after transient ischemic attacks"},"authors":{"en":[{"name":"Morita Naomi"},{"name":"Harada Masafumi"},{"name":"Satomi Junichiro"},{"name":"Terasawa Yuka"},{"name":"Kaji Ryuji"},{"name":"Nagahiro Shinji"}],"ja":[{"name":"森田 奈緒美"},{"name":"原田 雅史"},{"name":"里見 淳一郎"},{"name":"寺澤 由佳"},{"name":"梶 龍兒"},{"name":"永廣 信治"}]},"description":{"en":"The relationships between diffusion lesions and risk scores for patients with a Transient ischemic attack (TIA) and the optimal timing for diffusion lesion screening have not been characterized. The purpose of our study was to evaluate the appearance of diffusion-weighted imaging (DWI) lesions during follow-up examinations of patients with TIA or minor stroke without initial DWI lesions. We identified 31 patients who did not show diffusion lesions in initial DWI. A second magnetic resonance imaging (MRI) examination was performed 24 h after the initial MRI, and the patients were divided into two groups based on the results. Demographic and clinical data, including initial National Institutes of Health Stroke Scale scores, ABCD and ABCD(2) scores, and other MRI findings were evaluated. The data were analyzed using Spearman's rank tests and unpaired t tests. Ten patients (32.3 %) showed diffusion lesions on the second DWI examination. Both risk scores were higher in these patients compared with patients with negative results on follow-up DWI (P < 0.05, unpaired t test) and correlated with the length of the TIA (R s = 0.017, P < 0.05; R s = 0.003, P < 0.01; Spearman's rank test). Our results suggest that TIA patients with high-risk scores might be underestimated if the first MRI was performed within 24 h of symptom onset.","ja":"The relationships between diffusion lesions and risk scores for patients with a Transient ischemic attack (TIA) and the optimal timing for diffusion lesion screening have not been characterized. The purpose of our study was to evaluate the appearance of diffusion-weighted imaging (DWI) lesions during follow-up examinations of patients with TIA or minor stroke without initial DWI lesions. We identified 31 patients who did not show diffusion lesions in initial DWI. A second magnetic resonance imaging (MRI) examination was performed 24 h after the initial MRI, and the patients were divided into two groups based on the results. Demographic and clinical data, including initial National Institutes of Health Stroke Scale scores, ABCD and ABCD(2) scores, and other MRI findings were evaluated. The data were analyzed using Spearman's rank tests and unpaired t tests. Ten patients (32.3 %) showed diffusion lesions on the second DWI examination. Both risk scores were higher in these patients compared with patients with negative results on follow-up DWI (P < 0.05, unpaired t test) and correlated with the length of the TIA (R s = 0.017, P < 0.05; R s = 0.003, P < 0.01; Spearman's rank test). Our results suggest that TIA patients with high-risk scores might be underestimated if the first MRI was performed within 24 h of symptom onset."},"publication_date":"2013-04","publication_name":{"en":"Neuroradiology","ja":"Neuroradiology"},"volume":"Vol.55","number":"No.4","starting_page":"399","ending_page":"403","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1007/s00234-012-1113-x"],"issn":["1432-1920"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/23390045","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84876101146&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=265639","label":"url"}],"paper_title":{"en":"Oromandibular dystonia associated with SCA36","ja":"Oromandibular dystonia associated with SCA36"},"authors":{"en":[{"name":"Ai Miyashiro"},{"name":"Katsunobu Sugihara,"},{"name":"Kawarai Toshitaka"},{"name":"Ryosuke Miyamoto"},{"name":"Izumi Yuishin"},{"name":"Hiroyuki Morino"},{"name":"Hirofumi Maruyama"},{"name":"Antonio Orlacchio"},{"name":"Hideshi Kawakami"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Ai Miyashiro"},{"name":"Katsunobu Sugihara,"},{"name":"瓦井 俊孝"},{"name":"Ryosuke Miyamoto"},{"name":"和泉 唯信"},{"name":"Hiroyuki Morino"},{"name":"Hirofumi Maruyama"},{"name":"Antonio Orlacchio"},{"name":"Hideshi Kawakami"},{"name":"梶 龍兒"}]},"publication_date":"2013-04","publication_name":{"en":"Movement Disorders","ja":"Movement Disorders"},"volume":"Vol.28","number":"No.4","starting_page":"558","ending_page":"559","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1002/mds.25304"],"issn":["1531-8257"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/23435702","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=265638","label":"url"}],"paper_title":{"en":"Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia-parkinsonism","ja":"Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia-parkinsonism"},"authors":{"en":[{"name":"Kawarai Toshitaka"},{"name":"Paul Matthew D. Pasco"},{"name":"Rosalia A. Teleg"},{"name":"Kamada Masaki"},{"name":"Waka Sakai"},{"name":"Shimozono Komei"},{"name":"Mizuguchi Makoto"},{"name":"Daisy Tabuena"},{"name":"Antonio Orlacchio"},{"name":"Izumi Yuishin"},{"name":"Goto Satoshi"},{"name":"Lillian V. Lee"},{"name":"Kaji Ryuji"}],"ja":[{"name":"瓦井 俊孝"},{"name":"Paul Matthew D. Pasco"},{"name":"Rosalia A. Teleg"},{"name":"鎌田 正紀"},{"name":"Waka Sakai"},{"name":"下園 恒明"},{"name":"水口 誠人"},{"name":"Daisy Tabuena"},{"name":"Antonio Orlacchio"},{"name":"和泉 唯信"},{"name":"後藤 惠"},{"name":"Lillian V. Lee"},{"name":"梶 龍兒"}]},"publication_date":"2013-03","publication_name":{"en":"Neurogenetics","ja":"Neurogenetics"},"volume":"Vol.14","number":"No.2","starting_page":"167","ending_page":"169","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1007/s10048-013-0357-x"],"issn":["1364-6753"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/114613","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/23420105","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=262180","label":"url"}],"paper_title":{"en":"Dopamine signaling negatively regulates striatal phosphorylation of Cdk5 at tyrosine 15 in mice","ja":"Dopamine signaling negatively regulates striatal phosphorylation of Cdk5 at tyrosine 15 in mice"},"authors":{"en":[{"name":"Yamamura Yukio"},{"name":"Morigaki Ryoma"},{"name":"Kasahara Jiro"},{"name":"Yokoyama Hironori"},{"name":"Tanabe Akie"},{"name":"Ohkita Shinya"},{"name":"Koizumi Hidetaka"},{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"},{"name":"Goto Satoshi"}],"ja":[{"name":"Yamamura Yukio"},{"name":"森垣 龍馬"},{"name":"笠原 二郎"},{"name":"Yokoyama Hironori"},{"name":"Tanabe Akie"},{"name":"大北 真哉"},{"name":"Koizumi Hidetaka"},{"name":"永廣 信治"},{"name":"梶 龍兒"},{"name":"後藤 惠"}]},"description":{"en":"Striatal functions depend on the activity balance between the dopamine and glutamate neurotransmissions. Glutamate inputs activate cyclin-dependent kinase 5 (Cdk5), which inhibits postsynaptic dopamine signaling by phosphorylating DARPP-32 (dopamine- and cAMP-regulated phosphoprotein, 32 kDa) at Thr75 in the striatum. c-Abelson tyrosine kinase (c-Abl) is known to phosphorylate Cdk5 at Tyr15 (Tyr15-Cdk5) and thereby facilitates the Cdk5 activity. We here report that Cdk5 with Tyr15 phosphorylation (Cdk5-pTyr15) is enriched in the mouse striatum, where dopaminergic stimulation inhibited phosphorylation of Tyr15-Cdk5 by acting through the D2 class dopamine receptors. Moreover, in the 1-methyl-4-phenyl-1,2,4,6-tetrahydropyridine (MPTP) mouse model, dopamine deficiency caused increased phosphorylation of both Tyr15-Cdk5 and Thr75-DARPP-32 in the striatum, which could be attenuated by administration of L-3,4-dihydroxyphenylalanine and imatinib (STI-571), a selective c-Abl inhibitor. Our results suggest a functional link of Cdk5-pTyr15 with postsynaptic dopamine and glutamate signals through the c-Abl kinase activity in the striatum.","ja":"Striatal functions depend on the activity balance between the dopamine and glutamate neurotransmissions. Glutamate inputs activate cyclin-dependent kinase 5 (Cdk5), which inhibits postsynaptic dopamine signaling by phosphorylating DARPP-32 (dopamine- and cAMP-regulated phosphoprotein, 32 kDa) at Thr75 in the striatum. c-Abelson tyrosine kinase (c-Abl) is known to phosphorylate Cdk5 at Tyr15 (Tyr15-Cdk5) and thereby facilitates the Cdk5 activity. We here report that Cdk5 with Tyr15 phosphorylation (Cdk5-pTyr15) is enriched in the mouse striatum, where dopaminergic stimulation inhibited phosphorylation of Tyr15-Cdk5 by acting through the D2 class dopamine receptors. Moreover, in the 1-methyl-4-phenyl-1,2,4,6-tetrahydropyridine (MPTP) mouse model, dopamine deficiency caused increased phosphorylation of both Tyr15-Cdk5 and Thr75-DARPP-32 in the striatum, which could be attenuated by administration of L-3,4-dihydroxyphenylalanine and imatinib (STI-571), a selective c-Abl inhibitor. Our results suggest a functional link of Cdk5-pTyr15 with postsynaptic dopamine and glutamate signals through the c-Abl kinase activity in the striatum."},"publication_date":"2013-02-14","publication_name":{"en":"Frontiers in Cellular Neuroscience","ja":"Frontiers in Cellular Neuroscience"},"volume":"Vol.7","number":"No.12","starting_page":"1","ending_page":"10","languages":["eng"],"referee":true,"identifiers":{"doi":["10.3389/fncel.2013.00012"],"issn":["1662-5102"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/23370750","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84873503009&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=271313","label":"url"}],"paper_title":{"en":"Basal ganglia hyperintensity on T1-weighted imaging of a patient with central nervous system metastasis producing carcinoembryonic antigens","ja":"Basal ganglia hyperintensity on T1-weighted imaging of a patient with central nervous system metastasis producing carcinoembryonic antigens"},"authors":{"en":[{"name":"Fujita Koji"},{"name":"Sakai W"},{"name":"Harada Masafumi"},{"name":"Sakaki Mika"},{"name":"Mure Hideo"},{"name":"Nagahiro Shinji"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"藤田 浩司"},{"name":"Sakai W"},{"name":"原田 雅史"},{"name":"榊 美佳"},{"name":"牟礼 英生"},{"name":"永廣 信治"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"We herein report unusual basal ganglia hyperintense lesions on noncontrast T1-weighted magnetic resonance imaging in a patient with central nervous system metastasis from lung adenocarcinoma that was treated with gefitinib. T2*-weighted magnetic resonance imaging showed no hypointense lesions, thereby excluding the possibility of calcification or haemorrhage. A stereotactic brain biopsy of the left basal ganglia lesions revealed atypical cells, some of which formed a glandular lumen with a micropapillary pattern. These cells were immunopositive for markers of lung adenocarcinoma, thereby confirming the diagnosis of metastasis. We speculate that proteins, including carcinoembryonic antigens from the adenocarcinoma cells in the basal ganglia, may have contributed to the hyperintensity observed on noncontrast T1-weighted magnetic resonance imaging.","ja":"We herein report unusual basal ganglia hyperintense lesions on noncontrast T1-weighted magnetic resonance imaging in a patient with central nervous system metastasis from lung adenocarcinoma that was treated with gefitinib. T2*-weighted magnetic resonance imaging showed no hypointense lesions, thereby excluding the possibility of calcification or haemorrhage. A stereotactic brain biopsy of the left basal ganglia lesions revealed atypical cells, some of which formed a glandular lumen with a micropapillary pattern. These cells were immunopositive for markers of lung adenocarcinoma, thereby confirming the diagnosis of metastasis. We speculate that proteins, including carcinoembryonic antigens from the adenocarcinoma cells in the basal ganglia, may have contributed to the hyperintensity observed on noncontrast T1-weighted magnetic resonance imaging."},"publication_date":"2013-02-01","publication_name":{"en":"Internal Medicine","ja":"Internal Medicine"},"volume":"Vol.52","number":"No.3","starting_page":"381","ending_page":"383","languages":["eng"],"referee":true,"identifiers":{"doi":["10.2169/internalmedicine.52.8835"],"issn":["1349-7235"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=304027","label":"url"}],"paper_title":{"en":"Diagnostic spectrum of multifocal motor neuropathy","ja":"Diagnostic spectrum of multifocal motor neuropathy"},"authors":{"en":[{"name":"Matsui Naoko"},{"name":"Miyashiro Ai"},{"name":"Shimatani Yoshimitsu"},{"name":"Nodera Hiroyuki"},{"name":"Izumi Yuishin"},{"name":"Kuwabara Satoshi"},{"name":"Baba Masayuki"},{"name":"Komori Tetsuo"},{"name":"Sonoo Masahiro"},{"name":"Mezaki Takahiro"},{"name":"Kawamata Jun"},{"name":"Hitomi Takefumi"},{"name":"Imai Tomihiro"},{"name":"Kohara Nobuo"},{"name":"Arimura Kimiyoshi"},{"name":"Arisawa Kokichi"},{"name":"Kusunoki Susumu"},{"name":"Kaji Ryuji"}],"ja":[{"name":"松井 尚子"},{"name":"宮城 愛"},{"name":"島谷 佳光"},{"name":"野寺 裕之"},{"name":"和泉 唯信"},{"name":"Kuwabara Satoshi"},{"name":"Baba Masayuki"},{"name":"Komori Tetsuo"},{"name":"Sonoo Masahiro"},{"name":"Mezaki Takahiro"},{"name":"Kawamata Jun"},{"name":"Hitomi Takefumi"},{"name":"Imai Tomihiro"},{"name":"Kohara Nobuo"},{"name":"Arimura Kimiyoshi"},{"name":"有澤 孝吉"},{"name":"Kusunoki Susumu"},{"name":"梶 龍兒"}]},"publication_date":"2013","publication_name":{"en":"Clinical & Experimental Neuroimmunology","ja":"Clinical & Experimental Neuroimmunology"},"volume":"Vol.4","number":"No.2","starting_page":"210","ending_page":"215","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1111/cen3.12025"],"issn":["1759-1961"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/23208665","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=267993","label":"url"}],"paper_title":{"en":"Crossed cerebellar hyperperfusion without restricted diffusion in status epilepticus.","ja":"Crossed cerebellar hyperperfusion without restricted diffusion in status epilepticus."},"authors":{"en":[{"name":"Fujita Koji"},{"name":"Izumi Yuishin"},{"name":"Harada Masafumi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"藤田 浩司"},{"name":"Izumi Yuishin"},{"name":"Harada Masafumi"},{"name":"梶 龍兒"}]},"publication_date":"2012-12-04","publication_name":{"en":"Journal of Neurology","ja":"Journal of Neurology"},"volume":"Vol.260","number":"No.2","starting_page":"674","ending_page":"676","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1007/s00415-012-6773-2"],"issn":["1432-1459"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/23196520","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=267994","label":"url"}],"paper_title":{"en":"[New medications for dystonia].","ja":"ジストニアの新規薬物治療"},"authors":{"en":[{"name":"Miyazaki Yoshimichi"},{"name":"Sato Kenta"},{"name":"Koizumi Hidetaka"},{"name":"Sako Wataru"},{"name":"Asanuma Koutaro"},{"name":"Kaji Ryuji"}],"ja":[{"name":"宮﨑 由道"},{"name":"佐藤 健太"},{"name":"小泉 英貴"},{"name":"佐光 亘"},{"name":"浅沼 光太郎"},{"name":"梶 龍兒"}]},"description":{"en":"Although there are some newly-developed options to treat dystonia, its medical treatment is not always satisfactory. Zolpidem, an imidazopyridine agonist with a high affinity to benzodiazepine receptor subtype 1, has been reported to improve clinical symptoms of dystonia in some cases. We conducted an open-label study to assess the efficacy of zolpidem in 34 patients with primary dystonia patients, The Burke Fahn Marsden Dystonia Rating Scale (BFMDRS) scores in the patients were decreased from 7.2 ± 7.9 to 5.5 ± 5.0 after zolpidem therapy (P=0.042). Next we evaluated 55 patients with primary and secondary dystonia, 16 of 55 patients (29%) responded to zolpidem, and secondary dystonia, particularly post-traumatic dystonia, was more responsive than primary dystonia (5 of 11 [46%] vs 11 of 44 [25%]). The efficacy of zolpidem was comparable to that of other oral medications in our previous study; 33 of 89 dystonia patients (37%) responded to trihexyphenidil, 13 of 53 (25%) responded to clonazepam, and 4 of 21 (19%) responded to baclofen. In conclusion, our large scale study suggested that zolpidem may be a therapeutic option for dystonia, particularly post-traumatic dystonia.","ja":"Although there are some newly-developed options to treat dystonia, its medical treatment is not always satisfactory. Zolpidem, an imidazopyridine agonist with a high affinity to benzodiazepine receptor subtype 1, has been reported to improve clinical symptoms of dystonia in some cases. We conducted an open-label study to assess the efficacy of zolpidem in 34 patients with primary dystonia patients, The Burke Fahn Marsden Dystonia Rating Scale (BFMDRS) scores in the patients were decreased from 7.2 ± 7.9 to 5.5 ± 5.0 after zolpidem therapy (P=0.042). Next we evaluated 55 patients with primary and secondary dystonia, 16 of 55 patients (29%) responded to zolpidem, and secondary dystonia, particularly post-traumatic dystonia, was more responsive than primary dystonia (5 of 11 [46%] vs 11 of 44 [25%]). The efficacy of zolpidem was comparable to that of other oral medications in our previous study; 33 of 89 dystonia patients (37%) responded to trihexyphenidil, 13 of 53 (25%) responded to clonazepam, and 4 of 21 (19%) responded to baclofen. In conclusion, our large scale study suggested that zolpidem may be a therapeutic option for dystonia, particularly post-traumatic dystonia."},"publication_date":"2012-11","publication_name":{"en":"Clinical Neurology","ja":"臨床神経学"},"volume":"Vol.52","number":"No.11","starting_page":"1074","ending_page":"1076","languages":["jpn"],"referee":true,"identifiers":{"doi":["10.5692/clinicalneurol.52.1074"],"issn":["1882-0654"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/23109108","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=268136","label":"url"}],"paper_title":{"en":"Transsynaptic inhibition of spinal transmission by A2 botulinum toxin.","ja":"Transsynaptic inhibition of spinal transmission by A2 botulinum toxin."},"authors":{"en":[{"name":"Akaike Norio"},{"name":"Shin Min-Chul"},{"name":"Wakita Masahito"},{"name":"Torii Yasushi"},{"name":"Harakawa Tetsuhiro"},{"name":"Ginnaga Akihiro"},{"name":"Kato Keiko"},{"name":"Kaji Ryuji"},{"name":"Kozaki Shunji"}],"ja":[{"name":"Akaike Norio"},{"name":"Shin Min-Chul"},{"name":"Wakita Masahito"},{"name":"Torii Yasushi"},{"name":"Harakawa Tetsuhiro"},{"name":"Ginnaga Akihiro"},{"name":"Kato Keiko"},{"name":"梶 龍兒"},{"name":"Kozaki Shunji"}]},"description":{"en":"Type A botulinum toxin blocks not only ACh release from motor nerve terminals but also central synaptic transmission, including glutamate, noradrenaline, dopamine, ATP, GABA and glycine. Neurotoxins (NTXs) are transported by both antero- and retrogradely along either motor or sensory axons for bidirectional delivery between peripheral tissues or the CNS. A newly developed type A2 NTX (A2NTX) injected into one rat foreleg muscle was transported to the contralateral muscle. This finding was consistent with the NTX traveling retrogradely via spinal neurons and then transsynaptically through motor neurons to the contralateral motor neurons within the spinal cord and on to the soleus muscle. In the present study we found that toxin injection into the rat left soleus muscle clearly induced bilateral muscle relaxation in a dose-dependent fashion, although the contralateral muscle relaxation followed the complete inhibition of toxin-injected ipsilateral muscles. The toxin-injected ipsilateral muscle relaxation was faster and stronger in A2NTX-treated rats than A1LL (BOTOX). A1LL was transported almost equally to the contralateral muscle via neural pathways and the bloodstream. In contrast, A2NTX was mainly transported to contralateral muscles via the blood. A1LL was more successfully transported to contralateral spinal neurons than A2NTX. We also demonstrated that A1LL and A2NTX were carried from peripheral to CNS and vice versa by dual antero- and retrograde axonal transport through either motor or sensory neurons.","ja":"Type A botulinum toxin blocks not only ACh release from motor nerve terminals but also central synaptic transmission, including glutamate, noradrenaline, dopamine, ATP, GABA and glycine. Neurotoxins (NTXs) are transported by both antero- and retrogradely along either motor or sensory axons for bidirectional delivery between peripheral tissues or the CNS. A newly developed type A2 NTX (A2NTX) injected into one rat foreleg muscle was transported to the contralateral muscle. This finding was consistent with the NTX traveling retrogradely via spinal neurons and then transsynaptically through motor neurons to the contralateral motor neurons within the spinal cord and on to the soleus muscle. In the present study we found that toxin injection into the rat left soleus muscle clearly induced bilateral muscle relaxation in a dose-dependent fashion, although the contralateral muscle relaxation followed the complete inhibition of toxin-injected ipsilateral muscles. The toxin-injected ipsilateral muscle relaxation was faster and stronger in A2NTX-treated rats than A1LL (BOTOX). A1LL was transported almost equally to the contralateral muscle via neural pathways and the bloodstream. In contrast, A2NTX was mainly transported to contralateral muscles via the blood. A1LL was more successfully transported to contralateral spinal neurons than A2NTX. We also demonstrated that A1LL and A2NTX were carried from peripheral to CNS and vice versa by dual antero- and retrograde axonal transport through either motor or sensory neurons."},"publication_date":"2012-10-29","publication_name":{"en":"The Journal of Physiology","ja":"The Journal of Physiology"},"volume":"Vol.591","number":"No.Pt 4","starting_page":"1031","ending_page":"1043","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1113/jphysiol.2012.242131"],"issn":["1469-7793"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/22883144","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=268138","label":"url"}],"paper_title":{"en":"The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.","ja":"The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement."},"authors":{"en":[{"name":"Ishiura Hiroyuki"},{"name":"Sako Wataru"},{"name":"Yoshida Mari"},{"name":"Kawarai Toshitaka"},{"name":"Tanabe Osamu"},{"name":"Goto Jun"},{"name":"Takahashi Yuji"},{"name":"Date Hidetoshi"},{"name":"Mitsui Jun"},{"name":"Ahsan Budrul"},{"name":"Ichikawa Yaeko"},{"name":"Iwata Atsushi"},{"name":"Yoshino Hiide"},{"name":"Izumi Yuishin"},{"name":"Fujita Koji"},{"name":"Maeda Kouji"},{"name":"Goto Satoshi"},{"name":"Koizumi Hidetaka"},{"name":"Morigaki Ryoma"},{"name":"Ikemura Masako"},{"name":"Yamauchi Naoko"},{"name":"Murayama Shigeo"},{"name":"Nicholson Garth A"},{"name":"Ito Hidefumi"},{"name":"Sobue Gen"},{"name":"Nakagawa Masanori"},{"name":"Kaji Ryuji"},{"name":"Tsuji Shoji"}],"ja":[{"name":"Ishiura Hiroyuki"},{"name":"佐光 亘"},{"name":"Yoshida Mari"},{"name":"瓦井 俊孝"},{"name":"Tanabe Osamu"},{"name":"Goto Jun"},{"name":"Takahashi Yuji"},{"name":"Date Hidetoshi"},{"name":"Mitsui Jun"},{"name":"Ahsan Budrul"},{"name":"Ichikawa Yaeko"},{"name":"Iwata Atsushi"},{"name":"Yoshino Hiide"},{"name":"和泉 唯信"},{"name":"藤田 浩司"},{"name":"Maeda Kouji"},{"name":"後藤 惠"},{"name":"Koizumi Hidetaka"},{"name":"森垣 龍馬"},{"name":"Ikemura Masako"},{"name":"Yamauchi Naoko"},{"name":"Murayama Shigeo"},{"name":"Nicholson Garth A"},{"name":"Ito Hidefumi"},{"name":"Sobue Gen"},{"name":"Nakagawa Masanori"},{"name":"梶 龍兒"},{"name":"Tsuji Shoji"}]},"description":{"en":"Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is an autosomal-dominant neurodegenerative disorder characterized by widespread fasciculations, proximal-predominant muscle weakness, and atrophy followed by distal sensory involvement. To date, large families affected by HMSN-P have been reported from two different regions in Japan. Linkage and haplotype analyses of two previously reported families and two new families with the use of high-density SNP arrays further defined the minimum candidate region of 3.3 Mb in chromosomal region 3q12. Exome sequencing showed an identical c.854C>T (p.Pro285Leu) mutation in the TRK-fused gene (TFG) in the four families. Detailed haplotype analysis suggested two independent origins of the mutation. Pathological studies of an autopsied patient revealed TFG- and ubiquitin-immunopositive cytoplasmic inclusions in the spinal and cortical motor neurons. Fragmentation of the Golgi apparatus, a frequent finding in amyotrophic lateral sclerosis, was also observed in the motor neurons with inclusion bodies. Moreover, TAR DNA-binding protein 43 kDa (TDP-43)-positive cytoplasmic inclusions were also demonstrated. In cultured cells expressing mutant TFG, cytoplasmic aggregation of TDP-43 was demonstrated. These findings indicate that formation of TFG-containing cytoplasmic inclusions and concomitant mislocalization of TDP-43 underlie motor neuron degeneration in HMSN-P. Pathological overlap of proteinopathies involving TFG and TDP-43 highlights a new pathway leading to motor neuron degeneration.","ja":"Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is an autosomal-dominant neurodegenerative disorder characterized by widespread fasciculations, proximal-predominant muscle weakness, and atrophy followed by distal sensory involvement. To date, large families affected by HMSN-P have been reported from two different regions in Japan. Linkage and haplotype analyses of two previously reported families and two new families with the use of high-density SNP arrays further defined the minimum candidate region of 3.3 Mb in chromosomal region 3q12. Exome sequencing showed an identical c.854C>T (p.Pro285Leu) mutation in the TRK-fused gene (TFG) in the four families. Detailed haplotype analysis suggested two independent origins of the mutation. Pathological studies of an autopsied patient revealed TFG- and ubiquitin-immunopositive cytoplasmic inclusions in the spinal and cortical motor neurons. Fragmentation of the Golgi apparatus, a frequent finding in amyotrophic lateral sclerosis, was also observed in the motor neurons with inclusion bodies. Moreover, TAR DNA-binding protein 43 kDa (TDP-43)-positive cytoplasmic inclusions were also demonstrated. In cultured cells expressing mutant TFG, cytoplasmic aggregation of TDP-43 was demonstrated. These findings indicate that formation of TFG-containing cytoplasmic inclusions and concomitant mislocalization of TDP-43 underlie motor neuron degeneration in HMSN-P. Pathological overlap of proteinopathies involving TFG and TDP-43 highlights a new pathway leading to motor neuron degeneration."},"publication_date":"2012-08-10","publication_name":{"en":"American Journal of Human Genetics","ja":"American Journal of Human Genetics"},"volume":"Vol.91","number":"No.2","starting_page":"320","ending_page":"329","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.ajhg.2012.07.014"],"issn":["1537-6605"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/22821615","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84866267286&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=265641","label":"url"}],"paper_title":{"en":"Broad spectrum of dystonia associated with a novel thanatosis-associated protein domain-containing apoptosis-associated protein 1 mutation in a Japanese family with dystonia 6, torsion.","ja":"Broad spectrum of dystonia associated with a novel thanatosis-associated protein domain-containing apoptosis-associated protein 1 mutation in a Japanese family with dystonia 6, torsion."},"authors":{"en":[{"name":"Miyamoto Ryosuke"},{"name":"Ohta Etsuro"},{"name":"Kawarai Toshitaka"},{"name":"Koizumi Hidetaka"},{"name":"Sako Wataru"},{"name":"Izumi Yuishin"},{"name":"Obata Fumiya"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Miyamoto Ryosuke"},{"name":"Ohta Etsuro"},{"name":"瓦井 俊孝"},{"name":"Koizumi Hidetaka"},{"name":"佐光 亘"},{"name":"和泉 唯信"},{"name":"Obata Fumiya"},{"name":"梶 龍兒"}]},"publication_date":"2012-07-20","publication_name":{"en":"Movement Disorders","ja":"Movement Disorders"},"volume":"Vol.27","number":"No.10","starting_page":"1324","ending_page":"1325","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1002/mds.25106"],"issn":["1531-8257"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/22809875","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84865619727&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=268139","label":"url"}],"paper_title":{"en":"Antibodies to N-methyl-D-aspartate glutamate receptors in Creutzfeldt-Jakob disease patients.","ja":"Antibodies to N-methyl-D-aspartate glutamate receptors in Creutzfeldt-Jakob disease patients."},"authors":{"en":[{"name":"Fujita Koji"},{"name":"Yuasa Tatsuhiko"},{"name":"Takahashi Yukitoshi"},{"name":"Tanaka Keiko"},{"name":"Sako Wataru"},{"name":"Koizumi Hidetaka"},{"name":"Iwasaki Yasushi"},{"name":"Yoshida Mari"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"藤田 浩司"},{"name":"Yuasa Tatsuhiko"},{"name":"Takahashi Yukitoshi"},{"name":"Tanaka Keiko"},{"name":"佐光 亘"},{"name":"Koizumi Hidetaka"},{"name":"Iwasaki Yasushi"},{"name":"Yoshida Mari"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"Psychiatric symptom can be a prominent feature early in Creutzfeldt-Jakob disease (CJD), which is also common in autoantibody-mediated limbic encephalitis. We hypothesized that anti-neuronal autoantibodies, especially those against N-methyl-D-aspartate glutamate receptors (NMDAR), can also be associated with CJD. Thirteen patients with CJD and 13 patients with limbic encephalitis were enrolled. Immunohistochemistry demonstrated that serum of CJD patients reacted with neuronal components of the rat hippocampus, indicating that those samples contained anti-neuronal antibodies. Enzyme-linked immunosorbent assay revealed that titers of antibodies against peptides of GluN2B subunit of NMDAR were significantly elevated in the serum and cerebrospinal fluid of CJD patients.","ja":"Psychiatric symptom can be a prominent feature early in Creutzfeldt-Jakob disease (CJD), which is also common in autoantibody-mediated limbic encephalitis. We hypothesized that anti-neuronal autoantibodies, especially those against N-methyl-D-aspartate glutamate receptors (NMDAR), can also be associated with CJD. Thirteen patients with CJD and 13 patients with limbic encephalitis were enrolled. Immunohistochemistry demonstrated that serum of CJD patients reacted with neuronal components of the rat hippocampus, indicating that those samples contained anti-neuronal antibodies. Enzyme-linked immunosorbent assay revealed that titers of antibodies against peptides of GluN2B subunit of NMDAR were significantly elevated in the serum and cerebrospinal fluid of CJD patients."},"publication_date":"2012-07-17","publication_name":{"en":"Journal of Neuroimmunology","ja":"Journal of Neuroimmunology"},"volume":"Vol.251","number":"No.1-2","starting_page":"90","ending_page":"93","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.jneuroim.2012.06.010"],"issn":["1872-8421"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/22727276","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=268016","label":"url"}],"paper_title":{"en":"Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis.","ja":"Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis."},"authors":{"en":[{"name":"Ogaki Kotaro"},{"name":"Li Yuanzhe"},{"name":"Atsuta Naoki"},{"name":"Tomiyama Hiroyuki"},{"name":"Funayama Manabu"},{"name":"Watanabe Hazuki"},{"name":"Nakamura Ryoichi"},{"name":"Yoshino Hideo"},{"name":"Yato Seiji"},{"name":"Tamura Asako"},{"name":"Naito Yutaka"},{"name":"Taniguchi Akira"},{"name":"Fujita Koji"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"},{"name":"Hattori Nobutaka"},{"name":"Sobue Gen"}],"ja":[{"name":"Ogaki Kotaro"},{"name":"Li Yuanzhe"},{"name":"Atsuta Naoki"},{"name":"Tomiyama Hiroyuki"},{"name":"Funayama Manabu"},{"name":"Watanabe Hazuki"},{"name":"Nakamura Ryoichi"},{"name":"Yoshino Hideo"},{"name":"Yato Seiji"},{"name":"Tamura Asako"},{"name":"Naito Yutaka"},{"name":"Taniguchi Akira"},{"name":"藤田 浩司"},{"name":"和泉 唯信"},{"name":"梶 龍兒"},{"name":"Hattori Nobutaka"},{"name":"Sobue Gen"}]},"description":{"en":"Recently, a hexanucleotide repeat expansion in C9orf72 was identified as the most common cause of both sporadic and familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia in Western populations. We analyzed 563 Japanese patients with ALS (552 sporadic and 11 familial) using fluorescent fragment-length analysis of C9orf72 and repeat-primed polymerase chain reaction analysis. Haplotype analysis was performed for 42 single nucleotide polymorphisms in patients with C9orf72 repeat expansion. C9orf72 repeat expansion was found in 2 patients with sporadic ALS (2/552 = 0.4%) and no patients with familial ALS (0/11 = 0%). In the probands' families, 1 primary progressive aphasia patient and 1 asymptomatic 76-year-old individual exhibited C9orf72 repeat expansion. All of the patients with the C9orf72 repeat expansion carried the 20-single nucleotide polymorphism consensus risk haplotype. The frequency of the C9orf72 repeat expansion among Japanese patients is much lower than in Western populations. The existence of a 76-year-old asymptomatic carrier supported the notion of incomplete penetrance. The C9orf72 mutation should be analyzed in sporadic ALS patients after determining their family histories not only of frontotemporal dementia but also of primary progressive aphasia.","ja":"Recently, a hexanucleotide repeat expansion in C9orf72 was identified as the most common cause of both sporadic and familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia in Western populations. We analyzed 563 Japanese patients with ALS (552 sporadic and 11 familial) using fluorescent fragment-length analysis of C9orf72 and repeat-primed polymerase chain reaction analysis. Haplotype analysis was performed for 42 single nucleotide polymorphisms in patients with C9orf72 repeat expansion. C9orf72 repeat expansion was found in 2 patients with sporadic ALS (2/552 = 0.4%) and no patients with familial ALS (0/11 = 0%). In the probands' families, 1 primary progressive aphasia patient and 1 asymptomatic 76-year-old individual exhibited C9orf72 repeat expansion. All of the patients with the C9orf72 repeat expansion carried the 20-single nucleotide polymorphism consensus risk haplotype. The frequency of the C9orf72 repeat expansion among Japanese patients is much lower than in Western populations. The existence of a 76-year-old asymptomatic carrier supported the notion of incomplete penetrance. The C9orf72 mutation should be analyzed in sporadic ALS patients after determining their family histories not only of frontotemporal dementia but also of primary progressive aphasia."},"publication_date":"2012-06-21","publication_name":{"en":"Neurobiology of Aging","ja":"Neurobiology of Aging"},"volume":"Vol.33","number":"No.10","starting_page":"2527.e11","ending_page":"6","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.neurobiolaging.2012.05.011"],"issn":["1558-1497"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/22730017","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84864777670&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=262182","label":"url"}],"paper_title":{"en":"Generalized dystonia in a patient with a novel mutation in the GLUD1 gene","ja":"Generalized dystonia in a patient with a novel mutation in the GLUD1 gene"},"authors":{"en":[{"name":"Miyamoto Ryosuke"},{"name":"Goto Satoshi"},{"name":"Sako Wataru"},{"name":"Miyashiro Ai"},{"name":"Kim Isabelle"},{"name":"Escande Fabienne"},{"name":"Harada Masafumi"},{"name":"Morigaki Ryoma"},{"name":"Asanuma Koutaro"},{"name":"Mizobuchi Yoshifumi"},{"name":"Nagahiro Shinji"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Miyamoto Ryosuke"},{"name":"後藤 惠"},{"name":"佐光 亘"},{"name":"宮城 愛"},{"name":"Kim Isabelle"},{"name":"Escande Fabienne"},{"name":"原田 雅史"},{"name":"森垣 龍馬"},{"name":"浅沼 光太郎"},{"name":"溝渕 佳史"},{"name":"永廣 信治"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"publication_date":"2012-06-21","publication_name":{"en":"Movement Disorders","ja":"Movement Disorders"},"volume":"Vol.27","number":"No.9","starting_page":"1198","ending_page":"1199","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1002/mds.25081"],"issn":["1531-8257"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/22640903","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=268018","label":"url"}],"paper_title":{"en":"Early detection of familial Creutzfeldt-Jakob disease on diffusion-weighted imaging before symptom onset.","ja":"Early detection of familial Creutzfeldt-Jakob disease on diffusion-weighted imaging before symptom onset."},"authors":{"en":[{"name":"Terasawa Yuka"},{"name":"Fujita Koji"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"寺澤 由佳"},{"name":"藤田 浩司"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"Familial Creutzfeldt-Jakob disease (CJD) with V180I shows different clinical characteristics from classical CJD and is difficult to diagnose in the early stage. We report a CJD180 patient in whom results of diffusion-weighted imaging (DWI) led us to suspect CJD before symptoms started. A 68-year-old woman presented to our hospital with headache and nausea and underwent magnetic resonance imaging. DWI showed cortical hyperintensity. Three months later, cognitive function started to decline and CJD180 was diagnosed following genetic examination. In the early stage, ADC values were not decreased and single positron emission computed tomography demonstrated a decreased pattern like Alzheimer disease.","ja":"Familial Creutzfeldt-Jakob disease (CJD) with V180I shows different clinical characteristics from classical CJD and is difficult to diagnose in the early stage. We report a CJD180 patient in whom results of diffusion-weighted imaging (DWI) led us to suspect CJD before symptoms started. A 68-year-old woman presented to our hospital with headache and nausea and underwent magnetic resonance imaging. DWI showed cortical hyperintensity. Three months later, cognitive function started to decline and CJD180 was diagnosed following genetic examination. In the early stage, ADC values were not decreased and single positron emission computed tomography demonstrated a decreased pattern like Alzheimer disease."},"publication_date":"2012-05-27","publication_name":{"en":"Journal of the Neurological Sciences","ja":"Journal of the Neurological Sciences"},"volume":"Vol.319","number":"No.1-2","starting_page":"130","ending_page":"132","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.jns.2012.04.004"],"issn":["1878-5883"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/22638567","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=268019","label":"url"}],"paper_title":{"en":"Voltage-gated potassium channel complex antibodies in Creutzfeldt-Jakob disease.","ja":"Voltage-gated potassium channel complex antibodies in Creutzfeldt-Jakob disease."},"authors":{"en":[{"name":"Fujita Koji"},{"name":"Yuasa Tatsuhiko"},{"name":"Watanabe Osamu"},{"name":"Takahashi Yukitoshi"},{"name":"Hashiguchi Shuji"},{"name":"Adachi Katsuhito"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"藤田 浩司"},{"name":"Yuasa Tatsuhiko"},{"name":"Watanabe Osamu"},{"name":"Takahashi Yukitoshi"},{"name":"Hashiguchi Shuji"},{"name":"Adachi Katsuhito"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"publication_date":"2012-05-26","publication_name":{"en":"Journal of Neurology","ja":"Journal of Neurology"},"volume":"Vol.259","number":"No.10","starting_page":"2249","ending_page":"2250","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1007/s00415-012-6554-y"],"issn":["1432-1459"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/114906","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/22529836","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84865851195&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=283913","label":"url"}],"paper_title":{"en":"Efficacy of zolpidem for dystonia: a study among different subtypes","ja":"Efficacy of zolpidem for dystonia: a study among different subtypes"},"authors":{"en":[{"name":"Miyazaki Yoshimichi"},{"name":"Sako Wataru"},{"name":"Asanuma Koutaro"},{"name":"Izumi Yuishin"},{"name":"Miki T"},{"name":"Kaji Ryuji"}],"ja":[{"name":"宮﨑 由道"},{"name":"佐光 亘"},{"name":"浅沼 光太郎"},{"name":"和泉 唯信"},{"name":"Miki T"},{"name":"梶 龍兒"}]},"description":{"en":"Although there are some newly developed options to treat dystonia, its medical treatment is not always satisfactory. Zolpidem, an imidazopyridine agonist with a high affinity on benzodiazepine subtype receptor BZ1 (ω1), was found to improve clinical symptoms of dystonia in a limited number of case reports. To investigate what subtype of dystonia is responsive to the therapy, we conducted an open label study to assess the efficacy of zolpidem (5-20 mg) in 34 patients suffering from miscellaneous types of dystonia using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS). Patients were entered into the study if they had been refractory to other medications as evaluated by BFMDRS (no change in the previous two successive visits). After zolpidem therapy, the scores in the patients as a whole were decreased from 7.2 ± 7.9 to 5.5 ± 5.0 (P = 0.042). Patients with generalized dystonia, Meige syndrome/blepharospasm, and hand dystonia improved in the scale by 27.8, 17.8, and 31.0%, respectively, whereas no improvement was found in cervical dystonia patients. Overall response rate among patients were comparable to that of trihexyphenidyl. Zolpidem may be a therapeutic option for generalized dystonia, Meige syndrome, and hand dystonia including musician's. Drowsiness was the dose-limiting factor.","ja":"Although there are some newly developed options to treat dystonia, its medical treatment is not always satisfactory. Zolpidem, an imidazopyridine agonist with a high affinity on benzodiazepine subtype receptor BZ1 (ω1), was found to improve clinical symptoms of dystonia in a limited number of case reports. To investigate what subtype of dystonia is responsive to the therapy, we conducted an open label study to assess the efficacy of zolpidem (5-20 mg) in 34 patients suffering from miscellaneous types of dystonia using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS). Patients were entered into the study if they had been refractory to other medications as evaluated by BFMDRS (no change in the previous two successive visits). After zolpidem therapy, the scores in the patients as a whole were decreased from 7.2 ± 7.9 to 5.5 ± 5.0 (P = 0.042). Patients with generalized dystonia, Meige syndrome/blepharospasm, and hand dystonia improved in the scale by 27.8, 17.8, and 31.0%, respectively, whereas no improvement was found in cervical dystonia patients. Overall response rate among patients were comparable to that of trihexyphenidyl. Zolpidem may be a therapeutic option for generalized dystonia, Meige syndrome, and hand dystonia including musician's. Drowsiness was the dose-limiting factor."},"publication_date":"2012-04-17","publication_name":{"en":"Frontiers in Neurology","ja":"Frontiers in Neurology"},"volume":"Vol.3","number":"No.58","languages":["eng"],"referee":true,"identifiers":{"doi":["10.3389/fneur.2012.00058"],"issn":["1664-2295"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/22082830","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84863059295&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=283910","label":"url"}],"paper_title":{"en":"Parkin interacts with Klokin1 for mitochondrial import and maintenance of membrane potential","ja":"Parkin interacts with Klokin1 for mitochondrial import and maintenance of membrane potential"},"authors":{"en":[{"name":"Kuroda Yukiko"},{"name":"Sako Wataru"},{"name":"Goto Satoshi"},{"name":"Sawada Tomoyo"},{"name":"Uchida Daisuke"},{"name":"Izumi Yuishin"},{"name":"Takahashi Tetsuya"},{"name":"Kagawa Noriko"},{"name":"Matsumoto Masayasu"},{"name":"Matsumoto Mitsuru"},{"name":"Takahashi Ryosuke"},{"name":"Kaji Ryuji"},{"name":"Mitsui Takao"}],"ja":[{"name":"Kuroda Yukiko"},{"name":"佐光 亘"},{"name":"後藤 惠"},{"name":"Sawada Tomoyo"},{"name":"内田 大亮"},{"name":"和泉 唯信"},{"name":"Takahashi Tetsuya"},{"name":"香川 典子"},{"name":"Matsumoto Masayasu"},{"name":"松本 満"},{"name":"Takahashi Ryosuke"},{"name":"梶 龍兒"},{"name":"三ツ井 貴夫"}]},"description":{"en":"Parkin is a multifunctional protein, including maintaining mitochondrial homeostasis. Recent evidence suggests that Parkin is recruited from the cytoplasm to damaged mitochondria with low membrane potential. We found that intracellular localization of Parkin changed with cellular growth phase. Parkin was preferentially localized in the mitochondria of cultured cells. The mitochondria with large amounts of Parkin showed preserved membrane potentials even during treatment with carbonyl cyanide m-chlorophenylhydrazone. Here we report a novel protein named Klokin 1 that transports Parkin to the mitochondria. Klokin 1 was localized to the mitochondria and enhanced mitochondrial expression of Parkin. Klokin 1 enhanced cell viability in Parkin-silenced cells. Klokin 1 expression was enhanced in the brains of Parkin-deficient mice but not in an autopsied PARK2 brain. Our findings indicate that mitochondrial Parkin prevents mitochondrial depolarization and that Klokin 1 may compensate for Parkin deficiency.","ja":"Parkin is a multifunctional protein, including maintaining mitochondrial homeostasis. Recent evidence suggests that Parkin is recruited from the cytoplasm to damaged mitochondria with low membrane potential. We found that intracellular localization of Parkin changed with cellular growth phase. Parkin was preferentially localized in the mitochondria of cultured cells. The mitochondria with large amounts of Parkin showed preserved membrane potentials even during treatment with carbonyl cyanide m-chlorophenylhydrazone. Here we report a novel protein named Klokin 1 that transports Parkin to the mitochondria. Klokin 1 was localized to the mitochondria and enhanced mitochondrial expression of Parkin. Klokin 1 enhanced cell viability in Parkin-silenced cells. Klokin 1 expression was enhanced in the brains of Parkin-deficient mice but not in an autopsied PARK2 brain. Our findings indicate that mitochondrial Parkin prevents mitochondrial depolarization and that Klokin 1 may compensate for Parkin deficiency."},"publication_date":"2012-03-01","publication_name":{"en":"Human Molecular Genetics","ja":"Human Molecular Genetics"},"volume":"Vol.21","number":"No.5","starting_page":"991","ending_page":"1003","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1093/hmg/ddr530"],"issn":["1460-2083"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/22318346","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84858952386&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=256699","label":"url"}],"paper_title":{"en":"Prevalence of inositol 1, 4, 5-triphosphate receptor type 1 gene deletion, the mutation for spinocerebellar ataxia type 15, in Japan screened by gene dosage.","ja":"Prevalence of inositol 1, 4, 5-triphosphate receptor type 1 gene deletion, the mutation for spinocerebellar ataxia type 15, in Japan screened by gene dosage."},"authors":{"en":[{"name":"Obayashi Masato"},{"name":"Ishikawa Kinya"},{"name":"Izumi Yuishin"},{"name":"Takahashi Makoto"},{"name":"Niimi Yusuke"},{"name":"Sato Nozomu"},{"name":"Onodera Osamu"},{"name":"Kaji Ryuji"},{"name":"Nishizawa Masatoyo"},{"name":"Mizusawa Hidehiro"}],"ja":[{"name":"Obayashi Masato"},{"name":"Ishikawa Kinya"},{"name":"Izumi Yuishin"},{"name":"Takahashi Makoto"},{"name":"Niimi Yusuke"},{"name":"Sato Nozomu"},{"name":"Onodera Osamu"},{"name":"梶 龍兒"},{"name":"Nishizawa Masatoyo"},{"name":"Mizusawa Hidehiro"}]},"description":{"en":"Spinocerebellar ataxia type 15 (SCA15) is an autosomal dominant neurodegenerative disorder clinically characterized by late-onset, slowly progressive pure cerebellar ataxia. This disease is caused by a heterozygous deletion of the inositol 1, 4, 5-triphosphate receptor type 1 (ITPR1) gene, suggesting that haploinsufficiency of the receptor function is the plausible disease mechanism. To clarify the prevalence of SCA15 in Japan, we designed four sets of probes and primers in different regions of ITPR1 and performed TaqMan PCR assay to search for gene deletions in 226 index SCA patients excluded for repeat expansion disorders. Deletion was found in only one patient, in whom gait ataxia started at 51 years of age and progressed to show cerebellar ataxia. This study demonstrates a simple but efficient method for screening ITPR1 deletion. We also conclude that ITPR1 gene deletions are much rare in Japan than in Europe, comprising only 0.3% in all SCAs in Japan.","ja":"Spinocerebellar ataxia type 15 (SCA15) is an autosomal dominant neurodegenerative disorder clinically characterized by late-onset, slowly progressive pure cerebellar ataxia. This disease is caused by a heterozygous deletion of the inositol 1, 4, 5-triphosphate receptor type 1 (ITPR1) gene, suggesting that haploinsufficiency of the receptor function is the plausible disease mechanism. To clarify the prevalence of SCA15 in Japan, we designed four sets of probes and primers in different regions of ITPR1 and performed TaqMan PCR assay to search for gene deletions in 226 index SCA patients excluded for repeat expansion disorders. Deletion was found in only one patient, in whom gait ataxia started at 51 years of age and progressed to show cerebellar ataxia. This study demonstrates a simple but efficient method for screening ITPR1 deletion. We also conclude that ITPR1 gene deletions are much rare in Japan than in Europe, comprising only 0.3% in all SCAs in Japan."},"publication_date":"2012-02-09","publication_name":{"en":"Journal of Human Genetics","ja":"Journal of Human Genetics"},"volume":"Vol.57","number":"No.3","starting_page":"202","ending_page":"206","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1038/jhg.2012.5"],"issn":["1435-232X"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/114896","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/22290397","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=256685","label":"url"}],"paper_title":{"en":"Multicentre multiobserver study of diffusion-weighted and fluid-attenuated inversion recovery MRI for the diagnosis of sporadic Creutzfeldt-Jakob disease: a reliability and agreement study.","ja":"Multicentre multiobserver study of diffusion-weighted and fluid-attenuated inversion recovery MRI for the diagnosis of sporadic Creutzfeldt-Jakob disease: a reliability and agreement study."},"authors":{"en":[{"name":"Fujita Koji"},{"name":"Harada Masafumi"},{"name":"Sasaki Makoto"},{"name":"Yuasa Tatsuhiko"},{"name":"Sakai Kenji"},{"name":"Hamaguchi Tsuyoshi"},{"name":"Sanjo Nobuo"},{"name":"Shiga Yusei"},{"name":"Satoh Katsuya"},{"name":"Atarashi Ryuichiro"},{"name":"Shirabe Susumu"},{"name":"Nagata Ken"},{"name":"Maeda Tetsuya"},{"name":"Murayama Shigeo"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"},{"name":"Yamada Masahito"},{"name":"Mizusawa Hidehiro"}],"ja":[{"name":"藤田 浩司"},{"name":"Harada Masafumi"},{"name":"Sasaki Makoto"},{"name":"Yuasa Tatsuhiko"},{"name":"Sakai Kenji"},{"name":"Hamaguchi Tsuyoshi"},{"name":"Sanjo Nobuo"},{"name":"Shiga Yusei"},{"name":"Satoh Katsuya"},{"name":"Atarashi Ryuichiro"},{"name":"Shirabe Susumu"},{"name":"Nagata Ken"},{"name":"Maeda Tetsuya"},{"name":"Murayama Shigeo"},{"name":"Izumi Yuishin"},{"name":"梶 龍兒"},{"name":"Yamada Masahito"},{"name":"Mizusawa Hidehiro"}]},"description":{"en":"Objectives To assess the utility of the display standardisation of diffusion-weighted MRI (DWI) and to compare the effectiveness of DWI and fluid-attenuated inversion recovery (FLAIR) MRI for the diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD). Design A reliability and agreement study. Setting Thirteen MRI observers comprising eight neurologists and five radiologists at two universities in Japan. Participants Data of 1.5-Tesla DWI and FLAIR were obtained from 29 patients with sCJD and 13 controls. Outcome measures Standardisation of DWI display was performed utilising b0 imaging. The observers participated in standardised DWI, variable DWI (the display adjustment was observer dependent) and FLAIR sessions. The observers independently assessed each MRI for CJD-related lesions, that is, hyperintensity in the cerebral cortex or striatum, using a continuous rating scale. Performance was evaluated by the area under the receiver operating characteristics curve (AUC). Results The mean AUC values were 0.84 (95% CI 0.81 to 0.87) for standardised DWI, 0.85 (95% CI 0.82 to 0.88) for variable DWI and 0.68 (95% CI 0.63 to 0.72) for FLAIR, demonstrating the superiority of DWI (p<0.05). There was a trend for higher intraclass correlations of standardised DWI (0.74, 95% CI 0.66 to 0.83) and variable DWI (0.72, 95% CI 0.62 to 0.81) than that of FLAIR (0.63, 95% CI 0.53 to 0.74), although the differences were not statistically significant. Conclusions Standardised DWI is as reliable as variable DWI, and the two DWI displays are superior to FLAIR for the diagnosis of sCJD. The authors propose that hyperintensity in the cerebral cortex or striatum on 1.5-Tesla DWI but not FLAIR can be a reliable diagnostic marker for sCJD.","ja":"Objectives To assess the utility of the display standardisation of diffusion-weighted MRI (DWI) and to compare the effectiveness of DWI and fluid-attenuated inversion recovery (FLAIR) MRI for the diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD). Design A reliability and agreement study. Setting Thirteen MRI observers comprising eight neurologists and five radiologists at two universities in Japan. Participants Data of 1.5-Tesla DWI and FLAIR were obtained from 29 patients with sCJD and 13 controls. Outcome measures Standardisation of DWI display was performed utilising b0 imaging. The observers participated in standardised DWI, variable DWI (the display adjustment was observer dependent) and FLAIR sessions. The observers independently assessed each MRI for CJD-related lesions, that is, hyperintensity in the cerebral cortex or striatum, using a continuous rating scale. Performance was evaluated by the area under the receiver operating characteristics curve (AUC). Results The mean AUC values were 0.84 (95% CI 0.81 to 0.87) for standardised DWI, 0.85 (95% CI 0.82 to 0.88) for variable DWI and 0.68 (95% CI 0.63 to 0.72) for FLAIR, demonstrating the superiority of DWI (p<0.05). There was a trend for higher intraclass correlations of standardised DWI (0.74, 95% CI 0.66 to 0.83) and variable DWI (0.72, 95% CI 0.62 to 0.81) than that of FLAIR (0.63, 95% CI 0.53 to 0.74), although the differences were not statistically significant. Conclusions Standardised DWI is as reliable as variable DWI, and the two DWI displays are superior to FLAIR for the diagnosis of sCJD. The authors propose that hyperintensity in the cerebral cortex or striatum on 1.5-Tesla DWI but not FLAIR can be a reliable diagnostic marker for sCJD."},"publication_date":"2012-01-30","publication_name":{"en":"BMJ Open","ja":"BMJ Open"},"volume":"Vol.2","number":"No.1","starting_page":"649","ending_page":"649","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1136/bmjopen-2011-000649"],"issn":["2044-6055"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/22166431","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=256684","label":"url"}],"paper_title":{"en":"ALS-parkinsonism-dementia complex of Kii and other related diseases in Japan.","ja":"ALS-parkinsonism-dementia complex of Kii and other related diseases in Japan."},"authors":{"en":[{"name":"Kaji Ryuji"},{"name":"Izumi Yishin"},{"name":"Adachi Yoshiki"},{"name":"Kuzuhara Shigeki"}],"ja":[{"name":"梶 龍兒"},{"name":"Izumi Yishin"},{"name":"Adachi Yoshiki"},{"name":"Kuzuhara Shigeki"}]},"description":{"en":"The ALS/parkinsonism-dementia complex (PDC) of Kii is an endemic disease with a diverse phenotypic expression characteristic of classical ALS, parkinsonism and dementia. Its clinical and neuropathological manifestations are similar to a syndrome found in Guam, sharing classical ALS pathology together with many neurofibrillary tangles in the brain. The incidence rates of ALS declined dramatically between the 1950s and 1980s. In the 1990 s, Kuzuhara found a high incidence of PDC with abundant neurofibrillary tangles, similar to Guamanian PDC. The incidence rates of PDC dramatically rose during the 1980s and 1990 s, and PDC replaced ALS. More than 70% of patients in the endemic region had a family history of ALS or PDC. We recently found a new gene OPTN causing ALS, and have extended its clinical survey in Japan. Two autopsied cases showed involvement of basal ganglia and/or cerebral cortex with neurofibrillary tangles. A few family members also showed dementia and parkinsonism without evidence of motor neuron disease. Moreover the penetrance seems to be incomplete. Despite these similarities, OPTN mutations were not found in the Kii patients. We speculate that the Kii/ALS-PDC could primarily be a genetic disease, and its clinical manifestation is modified by other genes or environmental factors.","ja":"The ALS/parkinsonism-dementia complex (PDC) of Kii is an endemic disease with a diverse phenotypic expression characteristic of classical ALS, parkinsonism and dementia. Its clinical and neuropathological manifestations are similar to a syndrome found in Guam, sharing classical ALS pathology together with many neurofibrillary tangles in the brain. The incidence rates of ALS declined dramatically between the 1950s and 1980s. In the 1990 s, Kuzuhara found a high incidence of PDC with abundant neurofibrillary tangles, similar to Guamanian PDC. The incidence rates of PDC dramatically rose during the 1980s and 1990 s, and PDC replaced ALS. More than 70% of patients in the endemic region had a family history of ALS or PDC. We recently found a new gene OPTN causing ALS, and have extended its clinical survey in Japan. Two autopsied cases showed involvement of basal ganglia and/or cerebral cortex with neurofibrillary tangles. A few family members also showed dementia and parkinsonism without evidence of motor neuron disease. Moreover the penetrance seems to be incomplete. Despite these similarities, OPTN mutations were not found in the Kii patients. We speculate that the Kii/ALS-PDC could primarily be a genetic disease, and its clinical manifestation is modified by other genes or environmental factors."},"publication_date":"2012-01","publication_name":{"en":"Parkinsonism & Related Disorders","ja":"Parkinsonism & Related Disorders"},"volume":"Vol.18 Suppl 1","number":"No.1","starting_page":"S190","ending_page":"1","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/S1353-8020(11)70059-1"],"issn":["1873-5126"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/116978","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/22155493","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=256547","label":"url"}],"paper_title":{"en":"Cell type-specific localization of optineurin in the striatal neurons of mice: Implications for neuronal vulnerability in huntington's disease","ja":"Cell type-specific localization of optineurin in the striatal neurons of mice: Implications for neuronal vulnerability in huntington's disease"},"authors":{"en":[{"name":"Okita S"},{"name":"Morigaki Ryoma"},{"name":"Koizumi H"},{"name":"Kaji Ryuji"},{"name":"Nagahiro Shinji"},{"name":"Goto Satoshi"}],"ja":[{"name":"大北 真哉"},{"name":"森垣 龍馬"},{"name":"Koizumi H"},{"name":"梶 龍兒"},{"name":"永廣 信治"},{"name":"後藤 惠"}]},"description":{"en":"Striatal neuropathology of Huntington's disease (HD) involves primary and progressive degeneration of the medium-sized projection neurons, with relative sparing of the local circuit interneurons. The mechanism for such a patterned cell loss in the HD striatum continues to remain unclear. Optineurin (OPTN) is one of the proteins interacting with huntingtin and plays a protective role in several neurodegenerative disorders. To determine the cellular localization pattern of OPTN in the mouse striatum, we employed a highly sensitive immunohistochemistry with the tyramide signal amplification system. In this study, we show that OPTN appeared as a cytoplasmic protein within the subsets of the striatal neurons. Of particular interest was that OPTN was abundantly expressed in the interneurons, whereas low levels of OPTN were observed in the medium projection neurons. This cell type-specific distribution of OPTN in the striatum is strikingly complementary to the pattern of neuronal loss typically observed in the striatum of patients with HD. We suggest that OPTN abundance is an important cellular factor in considering the cell type-specific vulnerability of striatal neurons in HD.","ja":"Striatal neuropathology of Huntington's disease (HD) involves primary and progressive degeneration of the medium-sized projection neurons, with relative sparing of the local circuit interneurons. The mechanism for such a patterned cell loss in the HD striatum continues to remain unclear. Optineurin (OPTN) is one of the proteins interacting with huntingtin and plays a protective role in several neurodegenerative disorders. To determine the cellular localization pattern of OPTN in the mouse striatum, we employed a highly sensitive immunohistochemistry with the tyramide signal amplification system. In this study, we show that OPTN appeared as a cytoplasmic protein within the subsets of the striatal neurons. Of particular interest was that OPTN was abundantly expressed in the interneurons, whereas low levels of OPTN were observed in the medium projection neurons. This cell type-specific distribution of OPTN in the striatum is strikingly complementary to the pattern of neuronal loss typically observed in the striatum of patients with HD. We suggest that OPTN abundance is an important cellular factor in considering the cell type-specific vulnerability of striatal neurons in HD."},"publication_date":"2012-01","publication_name":{"en":"Neuroscience","ja":"Neuroscience"},"volume":"Vol.202","number":"No.27","starting_page":"363","ending_page":"370","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.neuroscience.2011.11.059"],"issn":["1873-7544"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"http://ci.nii.ac.jp/naid/10031136836/","label":"url"},{"@id":"https://cir.nii.ac.jp/crid/1571135651154880768/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=262200","label":"url"}],"paper_title":{"en":"Clinical characteristics of X-linked dystonia-parkinsonism","ja":"X-linked dystonia-parkinsonism患者の臨床症状の検討"},"authors":{"en":[{"name":"Morigaki Ryoma"},{"name":"Kawarai Toshitaka"},{"name":"Nakataki Masahito"},{"name":"Iga Junichi"},{"name":"Sako Wataru"},{"name":"Mizobuchi Yoshifumi"},{"name":"Nagahiro Shinji"},{"name":"Goto Satoshi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"森垣 龍馬"},{"name":"瓦井 俊孝"},{"name":"中瀧 理仁"},{"name":"伊賀 淳一"},{"name":"佐光 亘"},{"name":"溝渕 佳史"},{"name":"永廣 信治"},{"name":"後藤 惠"},{"name":"梶 龍兒"}]},"publication_date":"2011-12-15","publication_name":{"en":"Functional Neurosurgery","ja":"機能的脳神経外科"},"volume":"Vol.50","starting_page":"150","ending_page":"153","languages":["jpn"],"referee":true,"identifiers":{"issn":["1344-9699"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/22057403","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=256677","label":"url"}],"paper_title":{"en":"Detection of anti-glutamate receptor 2 and anti-N-methyl-D: -aspartate receptor antibodies in a patient with sporadic Creutzfeldt-Jakob disease.","ja":"Detection of anti-glutamate receptor 2 and anti-N-methyl-D: -aspartate receptor antibodies in a patient with sporadic Creutzfeldt-Jakob disease."},"authors":{"en":[{"name":"Fujita Koji"},{"name":"Yuasa Tatsuhiko"},{"name":"Takahashi Yukitoshi"},{"name":"Tanaka Keiko"},{"name":"Hashiguchi Shuji"},{"name":"Adachi Katsuhito"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"藤田 浩司"},{"name":"Yuasa Tatsuhiko"},{"name":"Takahashi Yukitoshi"},{"name":"Tanaka Keiko"},{"name":"Hashiguchi Shuji"},{"name":"Adachi Katsuhito"},{"name":"Izumi Yuishin"},{"name":"梶 龍兒"}]},"publication_date":"2011-11-05","publication_name":{"en":"Journal of Neurology","ja":"Journal of Neurology"},"volume":"Vol.259","number":"No.5","starting_page":"985","ending_page":"988","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1007/s00415-011-6291-7"],"issn":["1432-1459"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/22762947","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84871831437&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=283922","label":"url"}],"paper_title":{"en":"Nuclear factor B expression in patients with sporadic amyotrophic lateral sclerosis and hereditary amyotrophic lateral sclerosis with optineurin mutations","ja":"Nuclear factor B expression in patients with sporadic amyotrophic lateral sclerosis and hereditary amyotrophic lateral sclerosis with optineurin mutations"},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Ito Hidefumi"},{"name":"Yoshida Mari"},{"name":"Koizumi Hidetaka"},{"name":"Kamada Masaki"},{"name":"Fujita Koji"},{"name":"Hashizume Yoshio"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"佐光 亘"},{"name":"Ito Hidefumi"},{"name":"Yoshida Mari"},{"name":"Koizumi Hidetaka"},{"name":"鎌田 正紀"},{"name":"藤田 浩司"},{"name":"Hashizume Yoshio"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"Nuclear factor κ B (NF-κB) is involved in the pathogenesis of a number of neurodegenerative disorders with neuroinflammation. In order to clarify the role of NF-κB in ALS, immunohistochemical studies with an antibody that recognizes the p65 subunit of NF-κB were performed on the spinal anterior horn of 4 patients with sporadic ALS (sALS), 1 patient with optineurin-mutated ALS (OPTN-ALS), and 3 normal controls (NC). In patients with sALS or OPTN-ALS, the expression pattern of NF-κB was altered when compared to that of NC; NF-κB immunoreactivity tended to be absent from neuronal nucleus and was increased in microglia. The down-regulation of NF-κB in neuronal nucleus might contribute to a loss of neuroprotection, or neurons with nuclear NF-κB might be lost immediately after its activation. The microglial induction of NF-κB might contribute to neuroinflammation. In conclusion, NF-κB signaling pathway could have a key role in the pathomechanism of ALS.","ja":"Nuclear factor κ B (NF-κB) is involved in the pathogenesis of a number of neurodegenerative disorders with neuroinflammation. In order to clarify the role of NF-κB in ALS, immunohistochemical studies with an antibody that recognizes the p65 subunit of NF-κB were performed on the spinal anterior horn of 4 patients with sporadic ALS (sALS), 1 patient with optineurin-mutated ALS (OPTN-ALS), and 3 normal controls (NC). In patients with sALS or OPTN-ALS, the expression pattern of NF-κB was altered when compared to that of NC; NF-κB immunoreactivity tended to be absent from neuronal nucleus and was increased in microglia. The down-regulation of NF-κB in neuronal nucleus might contribute to a loss of neuroprotection, or neurons with nuclear NF-κB might be lost immediately after its activation. The microglial induction of NF-κB might contribute to neuroinflammation. In conclusion, NF-κB signaling pathway could have a key role in the pathomechanism of ALS."},"publication_date":"2011-11","publication_name":{"en":"Clinical Neuropathology","ja":"Clinical Neuropathology"},"volume":"Vol.31","number":"No.6","starting_page":"418","ending_page":"423","languages":["eng"],"referee":true,"identifiers":{"doi":["10.5414/NP300493"],"issn":["0722-5091"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/21640796","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-79960905477&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=283906","label":"url"}],"paper_title":{"en":"Cyclin-dependent kinase 5 with phosphorylation of tyrosine 15 residue is enriched in striatal matrix compartment in adult mice","ja":"Cyclin-dependent kinase 5 with phosphorylation of tyrosine 15 residue is enriched in striatal matrix compartment in adult mice"},"authors":{"en":[{"name":"Morigaki Ryoma"},{"name":"Sako Wataru"},{"name":"Okita Shinya"},{"name":"Kasahara Jiro"},{"name":"Yokoyama Hironori"},{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"},{"name":"Goto Satoshi"}],"ja":[{"name":"森垣 龍馬"},{"name":"佐光 亘"},{"name":"Okita Shinya"},{"name":"笠原 二郎"},{"name":"横山 宏典"},{"name":"永廣 信治"},{"name":"梶 龍兒"},{"name":"後藤 惠"}]},"description":{"en":"Accumulating evidence suggests that the striosome-matrix systems have a tight link with motor and behavioral brain functions and their disorders. Cyclin-dependent kinase 5 (Cdk5) is a versatile protein kinase that plays a role in synaptic functions and cell survival in adult brain, and its kinase activity is stimulated by phosphorylation at tyrosine 15 residue (pY15). In this study, we used an immunohistochemical method to show differential localization of Cdk5-pY15 in the striatal compartments of adult mice, with a heightened density of Cdk5-pY15 labeling in the matrix relative to the striosomes. Our findings indicate that Cdk5-pY15 can be a new marker for the striatal matrix compartment, and suggest a possible involvement of Cdk5-mediated signaling in compartment-specific neurotransmission and disease pathology in the striatum.","ja":"Accumulating evidence suggests that the striosome-matrix systems have a tight link with motor and behavioral brain functions and their disorders. Cyclin-dependent kinase 5 (Cdk5) is a versatile protein kinase that plays a role in synaptic functions and cell survival in adult brain, and its kinase activity is stimulated by phosphorylation at tyrosine 15 residue (pY15). In this study, we used an immunohistochemical method to show differential localization of Cdk5-pY15 in the striatal compartments of adult mice, with a heightened density of Cdk5-pY15 labeling in the matrix relative to the striosomes. Our findings indicate that Cdk5-pY15 can be a new marker for the striatal matrix compartment, and suggest a possible involvement of Cdk5-mediated signaling in compartment-specific neurotransmission and disease pathology in the striatum."},"publication_date":"2011-08-25","publication_name":{"en":"Neuroscience","ja":"Neuroscience"},"volume":"Vol.189","starting_page":"25","ending_page":"31","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.neuroscience.2011.05.055"],"issn":["1873-7544"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/21616129","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-79960914214&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=283903","label":"url"}],"paper_title":{"en":"Identification and localization of a neuron-specific isoform of TAF1 in rat brain: implications for neuropathology of DYT3 dystonia","ja":"Identification and localization of a neuron-specific isoform of TAF1 in rat brain: implications for neuropathology of DYT3 dystonia"},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Morigaki Ryoma"},{"name":"Kaji Ryuji"},{"name":"Tooyama Ikuo"},{"name":"Okita Shinya"},{"name":"Kitazato Keiko"},{"name":"Nagahiro Shinji"},{"name":"Graybiel Ann M"},{"name":"Goto Satoshi"}],"ja":[{"name":"佐光 亘"},{"name":"森垣 龍馬"},{"name":"梶 龍兒"},{"name":"Tooyama Ikuo"},{"name":"Okita Shinya"},{"name":"Kitazato Keiko"},{"name":"永廣 信治"},{"name":"Graybiel Ann M"},{"name":"後藤 惠"}]},"description":{"en":"The neuron-specific isoform of the TAF1 gene (N-TAF1) is thought to be involved in the pathogenesis of DYT3 dystonia, which leads to progressive neurodegeneration in the striatum. To determine the expression pattern of N-TAF1 transcripts, we developed a specific monoclonal antibody against the N-TAF1 protein. Here we show that in the rat brain, N-TAF1 protein appears as a nuclear protein within subsets of neurons in multiple brain regions. Of particular interest is that in the striatum, the nuclei possessing N-TAF1 protein are largely within medium spiny neurons, and they are distributed preferentially, though not exclusively, in the striosome compartment. The compartmental preference and cell type-selective distribution of N-TAF1 protein in the striatum are strikingly similar to the patterns of neuronal loss in the striatum of DYT3 patients. Our findings suggest that the distribution of N-TAF1 protein could represent a key molecular characteristic contributing to the pattern of striatal degeneration in DYT3 dystonia.","ja":"The neuron-specific isoform of the TAF1 gene (N-TAF1) is thought to be involved in the pathogenesis of DYT3 dystonia, which leads to progressive neurodegeneration in the striatum. To determine the expression pattern of N-TAF1 transcripts, we developed a specific monoclonal antibody against the N-TAF1 protein. Here we show that in the rat brain, N-TAF1 protein appears as a nuclear protein within subsets of neurons in multiple brain regions. Of particular interest is that in the striatum, the nuclei possessing N-TAF1 protein are largely within medium spiny neurons, and they are distributed preferentially, though not exclusively, in the striosome compartment. The compartmental preference and cell type-selective distribution of N-TAF1 protein in the striatum are strikingly similar to the patterns of neuronal loss in the striatum of DYT3 patients. Our findings suggest that the distribution of N-TAF1 protein could represent a key molecular characteristic contributing to the pattern of striatal degeneration in DYT3 dystonia."},"publication_date":"2011-08-25","publication_name":{"en":"Neuroscience","ja":"Neuroscience"},"volume":"Vol.189","starting_page":"100","ending_page":"107","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.neuroscience.2011.05.031"],"issn":["1873-7544"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/82890","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/21921424","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=241709","label":"url"}],"paper_title":{"en":"Long-term outcome of severe stroke patients: Is the ADL status at discharge from a stroke center indicative of the long-term outcome?","ja":"Long-term outcome of severe stroke patients: Is the ADL status at discharge from a stroke center indicative of the long-term outcome?"},"authors":{"en":[{"name":"Kashihara Michiharu"},{"name":"Nakao Shigetaka"},{"name":"Kawasaki Jun"},{"name":"Takata Shinjiro"},{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"},{"name":"Yasui Natsuo"}],"ja":[{"name":"Kashihara Michiharu"},{"name":"中尾 成孝"},{"name":"Kawasaki Jun"},{"name":"髙田 信二郎"},{"name":"永廣 信治"},{"name":"梶 龍兒"},{"name":"安井 夏生"}]},"description":{"en":"The objective of this study was to examine the possibility of predicting the long-term outcome of severe stroke patients from the ADL status at discharge. The design is a retrospective observational study in the stroke center at Tokushima University Hospital. Severe stroke patients at discharge with Barthel Index (BI) scores 40 (N=51) were divided into two subgroups retrospectively, improved and unimproved. The Functional Independence Measure (FIM) and BI were analyzed at discharge, 3 and 6 months after onset. Correlation analysis between BI and FIM showed good correlation, especially between BI and motor FIM (mFIM). In conclusion, the ADL status at discharge from a stroke center is not definitely indicative of the long-term outcome, although good recovery of severe stroke cases was observed in males and younger patients, and in patients with motor FIM score>25. This result shows that the first 3 months after the attack should be regarded as an important time window for intensive rehabilitation.","ja":"The objective of this study was to examine the possibility of predicting the long-term outcome of severe stroke patients from the ADL status at discharge. The design is a retrospective observational study in the stroke center at Tokushima University Hospital. Severe stroke patients at discharge with Barthel Index (BI) scores 40 (N=51) were divided into two subgroups retrospectively, improved and unimproved. The Functional Independence Measure (FIM) and BI were analyzed at discharge, 3 and 6 months after onset. Correlation analysis between BI and FIM showed good correlation, especially between BI and motor FIM (mFIM). In conclusion, the ADL status at discharge from a stroke center is not definitely indicative of the long-term outcome, although good recovery of severe stroke cases was observed in males and younger patients, and in patients with motor FIM score>25. This result shows that the first 3 months after the attack should be regarded as an important time window for intensive rehabilitation."},"publication_date":"2011-08","publication_name":{"en":"The Journal of Medical Investigation : JMI","ja":"The Journal of Medical Investigation : JMI"},"volume":"Vol.58","number":"No.3-4","starting_page":"227","ending_page":"234","languages":["eng"],"referee":true,"identifiers":{"doi":["10.2152/jmi.58.227"],"issn":["1349-6867"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/82888","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/21921430","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=241707","label":"url"}],"paper_title":{"en":"Gait and posture assessments of a patient treated with deep brain stimulation in dystonia using three-dimensional motion analysis systems.","ja":"Gait and posture assessments of a patient treated with deep brain stimulation in dystonia using three-dimensional motion analysis systems."},"authors":{"en":[{"name":"Nakao Shigetaka"},{"name":"Komatsu Kouji"},{"name":"Sakai Waka"},{"name":"Kashihara Michiharu"},{"name":"Masuda Yuki"},{"name":"Nishikawa Koji"},{"name":"Okahisa Tetsuya"},{"name":"Kondo Shin"},{"name":"Osawa Toshifumi"},{"name":"Kaji Ryuji"},{"name":"Goto Satoshi"},{"name":"Nagahiro Shinji"},{"name":"Takata Shinjiro"},{"name":"Yasui Natsuo"}],"ja":[{"name":"中尾 成孝"},{"name":"小松 宏慈"},{"name":"Sakai Waka"},{"name":"Kashihara Michiharu"},{"name":"Masuda Yuki"},{"name":"Nishikawa Koji"},{"name":"Okahisa Tetsuya"},{"name":"Kondo Shin"},{"name":"Osawa Toshifumi"},{"name":"梶 龍兒"},{"name":"後藤 惠"},{"name":"永廣 信治"},{"name":"髙田 信二郎"},{"name":"安井 夏生"}]},"description":{"en":"Kinesiologic analysis of gait disorders, postural instabilities and abnormal movements is quite difficult to assess objectively by clinical observation, such as by specific scale and video recordings. In this study, we reported one of the aspects of the usefulness of three-dimensional motion analysis (Vicon Systems, Oxford, United Kingdom), which can measure inclusive data of movement disorders and substitute for conventional assessments. A 49-year-old man who had various dystonic symptoms, mainly on his left side of the body, responded well to deep brain stimulation (DBS). The examination quantified how the involuntary movements or other symptoms with dystonia changed before and after treatments.","ja":"Kinesiologic analysis of gait disorders, postural instabilities and abnormal movements is quite difficult to assess objectively by clinical observation, such as by specific scale and video recordings. In this study, we reported one of the aspects of the usefulness of three-dimensional motion analysis (Vicon Systems, Oxford, United Kingdom), which can measure inclusive data of movement disorders and substitute for conventional assessments. A 49-year-old man who had various dystonic symptoms, mainly on his left side of the body, responded well to deep brain stimulation (DBS). The examination quantified how the involuntary movements or other symptoms with dystonia changed before and after treatments."},"publication_date":"2011-08","publication_name":{"en":"The Journal of Medical Investigation : JMI","ja":"The Journal of Medical Investigation : JMI"},"volume":"Vol.58","number":"No.3-4","starting_page":"264","ending_page":"272","languages":["eng"],"referee":true,"identifiers":{"doi":["10.2152/jmi.58.264"],"issn":["1349-6867"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/21665992","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=250940","label":"url"}],"paper_title":{"en":"A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese.","ja":"A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese."},"authors":{"en":[{"name":"Iida Aritoshi"},{"name":"Takahashi Atsushi"},{"name":"Kubo Michiaki"},{"name":"Saito Susumu"},{"name":"Hosono Naoya"},{"name":"Ohnishi Yozo"},{"name":"Kiyotani Kazuma"},{"name":"Mushiroda Taisei"},{"name":"Nakajima Masahiro"},{"name":"Ozaki Kouichi"},{"name":"Tanaka Toshihiro"},{"name":"Tsunoda Tatsuhiko"},{"name":"Oshima Shuichi"},{"name":"Sano Motoki"},{"name":"Kamei Tetsumasa"},{"name":"Tokuda Torao"},{"name":"Aoki Masashi"},{"name":"Hasegawa Kazuko"},{"name":"Mizoguchi Koichi"},{"name":"Morita Mitsuya"},{"name":"Takahashi Yuji"},{"name":"Katsuno Masahisa"},{"name":"Atsuta Naoki"},{"name":"Watanabe Hirohisa"},{"name":"Tanaka Fumiaki"},{"name":"Kaji Ryuji"},{"name":"Nakano Imaharu"},{"name":"Kamatani Naoyuki"},{"name":"Tsuji Shoji"},{"name":"Sobue Gen"},{"name":"Nakamura Yusuke"},{"name":"Ikegawa Shiro"}],"ja":[{"name":"Iida Aritoshi"},{"name":"Takahashi Atsushi"},{"name":"Kubo Michiaki"},{"name":"Saito Susumu"},{"name":"Hosono Naoya"},{"name":"Ohnishi Yozo"},{"name":"清谷 一馬"},{"name":"Mushiroda Taisei"},{"name":"Nakajima Masahiro"},{"name":"Ozaki Kouichi"},{"name":"Tanaka Toshihiro"},{"name":"Tsunoda Tatsuhiko"},{"name":"Oshima Shuichi"},{"name":"Sano Motoki"},{"name":"Kamei Tetsumasa"},{"name":"Tokuda Torao"},{"name":"Aoki Masashi"},{"name":"Hasegawa Kazuko"},{"name":"Mizoguchi Koichi"},{"name":"Morita Mitsuya"},{"name":"Takahashi Yuji"},{"name":"Katsuno Masahisa"},{"name":"Atsuta Naoki"},{"name":"Watanabe Hirohisa"},{"name":"Tanaka Fumiaki"},{"name":"梶 龍兒"},{"name":"Nakano Imaharu"},{"name":"鎌谷 直之"},{"name":"Tsuji Shoji"},{"name":"Sobue Gen"},{"name":"Nakamura Yusuke"},{"name":"Ikegawa Shiro"}]},"description":{"en":"Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the selective loss of motor neurons. Several susceptibility genes for ALS have been reported; however, ALS etiology and pathogenesis remain largely unknown. To identify further ALS-susceptibility genes, we conducted a large-scale case-control association study using gene-based tag single-nucleotide polymorphisms (SNPs). A functional SNP (rs2275294) was found to be significantly associated with ALS through a stepwise screening approach (combined P= 9.3 × 10(-10), odds ratio = 1.32). The SNP was located in an enhancer region of ZNF512B, a transcription factor of unknown biological function, and the susceptibility allele showed decreased activity and decreased binding to nuclear proteins. ZNF512B over-expression increased transforming growth factor-β (TGF-β) signaling, while knockdown had the opposite effect. ZNF512B expression was increased in the anterior horn motor neurons of the spinal cord of ALS patients when compared with controls. Our results strongly suggest that ZNF512B is an important positive regulator of TGF-β signaling and that decreased ZNF512B expression increases susceptibility to ALS.","ja":"Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the selective loss of motor neurons. Several susceptibility genes for ALS have been reported; however, ALS etiology and pathogenesis remain largely unknown. To identify further ALS-susceptibility genes, we conducted a large-scale case-control association study using gene-based tag single-nucleotide polymorphisms (SNPs). A functional SNP (rs2275294) was found to be significantly associated with ALS through a stepwise screening approach (combined P= 9.3 × 10(-10), odds ratio = 1.32). The SNP was located in an enhancer region of ZNF512B, a transcription factor of unknown biological function, and the susceptibility allele showed decreased activity and decreased binding to nuclear proteins. ZNF512B over-expression increased transforming growth factor-β (TGF-β) signaling, while knockdown had the opposite effect. ZNF512B expression was increased in the anterior horn motor neurons of the spinal cord of ALS patients when compared with controls. Our results strongly suggest that ZNF512B is an important positive regulator of TGF-β signaling and that decreased ZNF512B expression increases susceptibility to ALS."},"publication_date":"2011-06-10","publication_name":{"en":"Human Molecular Genetics","ja":"Human Molecular Genetics"},"volume":"Vol.20","number":"No.18","starting_page":"3684","ending_page":"3692","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1093/hmg/ddr268"],"issn":["1460-2083"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/21516351","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=239741","label":"url"}],"paper_title":{"en":"Effects of a Brain-Engraftable Microglial Cell Line Expressing Anti-Prion scFv Antibodies on Survival Times of Mice Infected with Scrapie Prions.","ja":"Effects of a Brain-Engraftable Microglial Cell Line Expressing Anti-Prion scFv Antibodies on Survival Times of Mice Infected with Scrapie Prions."},"authors":{"en":[{"name":"Fujita Koji"},{"name":"Yamaguchi Yoshitaka"},{"name":"Mori Tsuyoshi"},{"name":"Muramatsu Naomi"},{"name":"Miyamoto Takahito"},{"name":"Yano Masashi"},{"name":"Miyata Hironori"},{"name":"Ootsuyama Akira"},{"name":"Sawada Makoto"},{"name":"Matsuda Haruo"},{"name":"Kaji Ryuji"},{"name":"Sakaguchi Suehiro"}],"ja":[{"name":"藤田 浩司"},{"name":"Yamaguchi Yoshitaka"},{"name":"森 剛志"},{"name":"Muramatsu Naomi"},{"name":"Miyamoto Takahito"},{"name":"矢野 雅司"},{"name":"Miyata Hironori"},{"name":"Ootsuyama Akira"},{"name":"Sawada Makoto"},{"name":"Matsuda Haruo"},{"name":"梶 龍兒"},{"name":"坂口 末廣"}]},"description":{"en":"We first verified that a single chain Fv fragment against prion protein (anti-PrP scFv) was secreted by HEK293T cells and prevented prion replication in infected cells. We then stably expressed anti-PrP scFv in brain-engraftable murine microglial cells and intracerebrally injected these cells into mice before or after infection with prions. Interestingly, the injection before or at an early time point after infection attenuated the infection marginally but significantly prolonged survival times of the mice. These suggest that the ex vivo gene transfer of anti-PrP scFvs using brain-engraftable cells could be a possible immunotherapeutic approach against prion diseases.","ja":"We first verified that a single chain Fv fragment against prion protein (anti-PrP scFv) was secreted by HEK293T cells and prevented prion replication in infected cells. We then stably expressed anti-PrP scFv in brain-engraftable murine microglial cells and intracerebrally injected these cells into mice before or after infection with prions. Interestingly, the injection before or at an early time point after infection attenuated the infection marginally but significantly prolonged survival times of the mice. These suggest that the ex vivo gene transfer of anti-PrP scFvs using brain-engraftable cells could be a possible immunotherapeutic approach against prion diseases."},"publication_date":"2011-04-23","publication_name":{"en":"Cellular and Molecular Neurobiology","ja":"Cellular and Molecular Neurobiology"},"volume":"Vol.31","number":"No.7","starting_page":"999","ending_page":"1008","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1007/s10571-011-9696-z"],"issn":["1573-6830"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"http://search.jamas.or.jp/link/ui/2012112946","label":"url"},{"@id":"https://cir.nii.ac.jp/crid/1390282679397005184/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=307155","label":"url"}],"paper_title":{"en":"A case of enlargement of the right atrium associated with myositis detected by muscle ultrasonography","ja":"筋エコーにより筋炎の関与が判明した右房拡張症の一例"},"authors":{"en":[{"name":"Miyazaki Yoshimichi"},{"name":"高松 直子"},{"name":"Miyashiro Ai"},{"name":"Terasawa Yuka"},{"name":"Matsui Naoko"},{"name":"Asanuma Koutaro"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"宮﨑 由道"},{"name":"高松 直子"},{"name":"宮城 愛"},{"name":"寺澤 由佳"},{"name":"松井 尚子"},{"name":"浅沼 光太郎"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"A 45-year-old woman was admitted to the hospital because of general malaise since 2005. She have not remarkable disease in the past history. In the family history, one of her older sister died of ulcerative colitis, another one suffers from systemic lupus erythematosis, and her older brother affected of Behçet's disease. On electrocardiogram examination, atrial fibrillation was revealed associated with remarkable dilation of the right atrium in echocardiogram, but any abnormal finding is not seen both ventricles. The ultrasonographic findings of the biceps brachi showed remarkable myopathic pattern. A biopsy specimen obtained from the biceps brachi, these muscles revealed degeneration and necrosis of muscle fibers, interstitial infiltration with monocytes, and perivascular infiltrates of inflammatory cells. In the magnetic resonance imaging of the heart showed, not only remarkable dilatation of right atria, but also diffuse high intensity areas in left ventricle under T2-intensified conditions. We diagnosed generalized myositis involved with myocarditis, and treated with steroid. One year later, she still takes steroid, and her symptoms improvement continuously.If one of cardiac atrium or ventricle enlarged, there is possibility of the cardiac myositis or systemic myositis. In these cases, skeletal muscle ultrasonography may be non-invasive and useful method of differential diagnosis.","ja":"症例は45歳女性で,全身倦怠感を主訴にした.42歳時に動悸症状を自覚し,44歳時に全身倦怠感を強く自覚し,近医の心電図で心房細動を指摘された.聴診では心雑音や過剰心音はなく,肺音は清,頸動脈雑音を認めなかった.頸部,四肢近位部にごく軽度の筋力低下を認め,Gowers徴候は明らかでなかった.24時間心電図検査で頻発する発作性心房細動を認め,モニター心電図で最大約7秒の洞停止を確認した.心エコーでは右房の著明な拡張,左房の軽度拡張を認めた.三尖弁に軽度逆流を認めたが,逆流の程度からは右房拡張の直接原因とは考え難かった.僧帽弁に異常は認めず,左室収縮能は保たれていた.膠原病関連疾患としての筋炎,サルコイドーシスなどの鑑別目的に筋エコー検査を施行した.特発性右房拡張症中に,全身性筋炎を伴う心筋炎を原因とした一群の存在の可能性があり,スクリーニング検査として,筋エコー検査は侵襲性が少なく,簡便で,またペースメーカー導入後も使用でき有用であった."},"publication_date":"2011-04","publication_name":{"en":"Neurosonology","ja":"神経超音波医学"},"volume":"Vol.24","number":"No.1","starting_page":"12","ending_page":"14","languages":["jpn"],"referee":true,"identifiers":{"doi":["10.2301/neurosonology.24.12"],"issn":["0917-074X"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"http://ci.nii.ac.jp/naid/40018806453/","label":"url"},{"@id":"https://cir.nii.ac.jp/crid/1521417755902852864/","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-79955804438&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=250568","label":"url"}],"paper_title":{"en":"Clinical features of optic neuritis positive for anti-aquaporin 4 antibody","ja":"抗アクアポリン4抗体陽性視神経炎の臨床像 (特集 第64回日本臨床眼科学会講演集(2))"},"authors":{"en":[{"name":"Chihiro Yamanaka"},{"name":"Egawa Mariko"},{"name":"Mitamura Yoshinori"},{"name":"Matsui Naoko"},{"name":"Kaji Ryuji"}],"ja":[{"name":"山中 千尋"},{"name":"江川 麻理子"},{"name":"三田村 佳典"},{"name":"松井 尚子"},{"name":"梶 龍兒"}]},"publication_date":"2011-04","publication_name":{"en":"Japanese Journal of Clinical Ophthalmology","ja":"臨床眼科"},"volume":"Vol.65","number":"No.4","starting_page":"521","ending_page":"526","languages":["jpn"],"referee":true,"identifiers":{"issn":["0370-5579"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/21327850","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=256662","label":"url"}],"paper_title":{"en":"Temporal evolution of sporadic Creutzfeldt-Jakob disease monitored by 3-Tesla MR spectroscopy.","ja":"Temporal evolution of sporadic Creutzfeldt-Jakob disease monitored by 3-Tesla MR spectroscopy."},"authors":{"en":[{"name":"Fujita Koji"},{"name":"Harada Masafumi"},{"name":"Yuasa Tatsuhiko"},{"name":"Sasaki Makoto"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"藤田 浩司"},{"name":"原田 雅史"},{"name":"Yuasa Tatsuhiko"},{"name":"Sasaki Makoto"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"publication_date":"2011-02-17","publication_name":{"en":"Journal of Neurology","ja":"Journal of Neurology"},"volume":"Vol.258","number":"No.7","starting_page":"1368","ending_page":"1370","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1007/s00415-011-5939-7"],"issn":["1432-1459"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/21147544","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=283900","label":"url"}],"paper_title":{"en":"Bilateral pallidal deep brain stimulation in primary Meige syndrome","ja":"Bilateral pallidal deep brain stimulation in primary Meige syndrome"},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Morigaki Ryoma"},{"name":"Mizobuchi Yoshifumi"},{"name":"Tsuzuki Takashi"},{"name":"Ima Hiroyuki"},{"name":"Ushio Y"},{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"},{"name":"Goto Satoshi"}],"ja":[{"name":"佐光 亘"},{"name":"森垣 龍馬"},{"name":"溝渕 佳史"},{"name":"Tsuzuki Takashi"},{"name":"Ima Hiroyuki"},{"name":"Ushio Y"},{"name":"永廣 信治"},{"name":"梶 龍兒"},{"name":"後藤 惠"}]},"description":{"en":"Primary Meige syndrome is an idiopathic movement disorder that manifests as craniofacial and often cervical dystonias. Deep brain stimulation (DBS) of the globus pallidus internus (GPi) has emerged as a powerful surgical option in the treatment of primary generalized or segmental dystonia. However, the experience with GPi-DBS in Meige syndrome is limited. We followed 5 patients with disabling Meige syndrome treated by bilateral GPi-DBS for 49 ± 43.7 (mean ± SD) months. All patients were assessed before surgery and at the last follow-up after surgery using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) which includes both the movement and disability scales. Bilateral GPi-DBS produced a sustained and long-lasting improvement in dystonia symptoms associated with Meige syndrome. At the last follow-up, the mean scores of BFMDRS movement and disability scales improved significantly by 84 ± 6.8% (range, 75-94%) and 89 ± 8.1% (range, 80-100%), respectively. Bilateral pallidal stimulation is a beneficial therapeutic option for long-term relief of the disabling dystonia symptoms in Meige syndrome.","ja":"Primary Meige syndrome is an idiopathic movement disorder that manifests as craniofacial and often cervical dystonias. Deep brain stimulation (DBS) of the globus pallidus internus (GPi) has emerged as a powerful surgical option in the treatment of primary generalized or segmental dystonia. However, the experience with GPi-DBS in Meige syndrome is limited. We followed 5 patients with disabling Meige syndrome treated by bilateral GPi-DBS for 49 ± 43.7 (mean ± SD) months. All patients were assessed before surgery and at the last follow-up after surgery using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) which includes both the movement and disability scales. Bilateral GPi-DBS produced a sustained and long-lasting improvement in dystonia symptoms associated with Meige syndrome. At the last follow-up, the mean scores of BFMDRS movement and disability scales improved significantly by 84 ± 6.8% (range, 75-94%) and 89 ± 8.1% (range, 80-100%), respectively. Bilateral pallidal stimulation is a beneficial therapeutic option for long-term relief of the disabling dystonia symptoms in Meige syndrome."},"publication_date":"2011-02","publication_name":{"en":"Parkinsonism & Related Disorders","ja":"Parkinsonism & Related Disorders"},"volume":"Vol.17","number":"No.2","starting_page":"123","ending_page":"125","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.parkreldis.2010.11.013"],"issn":["1873-5126"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=256180","label":"url"}],"paper_title":{"en":"-dropped head syndrome","ja":"-dropped head syndrome"},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Morigaki Ryoma"},{"name":"宮本 亮介"},{"name":"Kaji Ryuji"},{"name":"溝渕 桂史"},{"name":"Nagahiro Shinji"},{"name":"Goto Satoshi"}],"ja":[{"name":"佐光 亘"},{"name":"森垣 龍馬"},{"name":"宮本 亮介"},{"name":"梶 龍兒"},{"name":"溝渕 桂史"},{"name":"永廣 信治"},{"name":"後藤 惠"}]},"publication_date":"2011","publication_name":{"en":"Functional Neurosurgery","ja":"機能的脳神経外科"},"volume":"Vol.50","number":"No.2","starting_page":"115","ending_page":"118","languages":["jpn"],"referee":true,"identifiers":{"issn":["1344-9699"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/20603191","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-77956189821&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=283862","label":"url"}],"paper_title":{"en":"Olfactory type G-protein alpha subunit in striosome-matrix dopamine systems in adult mice","ja":"Olfactory type G-protein alpha subunit in striosome-matrix dopamine systems in adult mice"},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Morigaki Ryoma"},{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"},{"name":"Goto Satoshi"}],"ja":[{"name":"佐光 亘"},{"name":"森垣 龍馬"},{"name":"永廣 信治"},{"name":"梶 龍兒"},{"name":"後藤 惠"}]},"description":{"en":"There is a growing body of evidence that striosome-matrix dopamine systems are tightly linked with motor and behavioral brain functions and disorders. In this study, we used an immunohistochemical method to show differential expression of the olfactory type G-protein alpha subunit (Galphaolf) that involves in the coupling of dopamine D1 receptor with adenylyl cyclase in the striatal compartments of adult mice, and observed heightened density of Galphaolf labeling in the striosomes relative to the matrix compartment. Our findings suggest that Galphaolf could be one of the key molecules for controlling differential responses of the striosome and matrix compartments to dopamine D1 receptor signaling in the striatum of adult mice.","ja":"There is a growing body of evidence that striosome-matrix dopamine systems are tightly linked with motor and behavioral brain functions and disorders. In this study, we used an immunohistochemical method to show differential expression of the olfactory type G-protein alpha subunit (Galphaolf) that involves in the coupling of dopamine D1 receptor with adenylyl cyclase in the striatal compartments of adult mice, and observed heightened density of Galphaolf labeling in the striosomes relative to the matrix compartment. Our findings suggest that Galphaolf could be one of the key molecules for controlling differential responses of the striosome and matrix compartments to dopamine D1 receptor signaling in the striatum of adult mice."},"publication_date":"2010-10-13","publication_name":{"en":"Neuroscience","ja":"Neuroscience"},"volume":"Vol.170","number":"No.2","starting_page":"497","ending_page":"502","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.neuroscience.2010.06.072"],"issn":["1873-7544"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://cir.nii.ac.jp/crid/1571417124978153088/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=262461","label":"url"}],"paper_title":{"en":"Bilateral pallidal stimulation in Meige syndrome","ja":"Meige 症候群に対する両側淡蒼球刺激術"},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Murase Nagako"},{"name":"Mizobuchi Yoshifumi"},{"name":"Morigaki Ryoma"},{"name":"Matsuzaki Kazuhito"},{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"},{"name":"Goto Satoshi"}],"ja":[{"name":"佐光 亘"},{"name":"村瀬 永子"},{"name":"溝渕 佳史"},{"name":"森垣 龍馬"},{"name":"松﨑 和仁"},{"name":"永廣 信治"},{"name":"梶 龍兒"},{"name":"後藤 惠"}]},"publication_date":"2010-06-15","publication_name":{"en":"Functional Neurosurgery","ja":"機能的脳神経外科"},"volume":"Vol.49","number":"No.1","starting_page":"94","ending_page":"95","languages":["jpn"],"referee":true,"identifiers":{"issn":["1344-9699"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/20375500","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=256564","label":"url"}],"paper_title":{"en":"Incidence and clinical correlation of intracranial hemorrhages observed by 3-tesla gradient echo T2*-weighted images following intravenous thrombolysis with recombinant tissue plasminogen activator","ja":"Incidence and clinical correlation of intracranial hemorrhages observed by 3-tesla gradient echo T2*-weighted images following intravenous thrombolysis with recombinant tissue plasminogen activator"},"authors":{"en":[{"name":"Harada Masafumi"},{"name":"Morita Naomi"},{"name":"Uno Masaaki"},{"name":"Satomi Junichiro"},{"name":"Izumi Yuishin"},{"name":"Asanuma Koutaro"},{"name":"Nishitani Hiromu"},{"name":"Kaji Ryuji"},{"name":"Nagahiro Shinji"}],"ja":[{"name":"原田 雅史"},{"name":"森田 奈緒美"},{"name":"宇野 昌明"},{"name":"里見 淳一郎"},{"name":"和泉 唯信"},{"name":"浅沼 光太郎"},{"name":"西谷 弘"},{"name":"梶 龍兒"},{"name":"永廣 信治"}]},"description":{"en":"The purpose of this study was to determine the incidence and clinical correlation of intracranial hemorrhages (ICHs) detected by 3-tesla gradient echo T(2)*-weighted images after intravenous recombinant tissue plasminogen activator (rt-PA) administration. We included 43 consecutive patients with anterior-circulation ischemia who underwent MRI studies before and after thrombolysis. Each hemorrhage was classified as a hemorrhagic infarction (HI) or parenchymal hemorrhage (PH) according to the European Cooperative Acute Stroke Study definition. The clinical outcome was defined as an improvement (> or =4-point reduction) or deterioration (> or =4-point increase) based on a comparison between the initial and the 30-day NIHSS scores. The incidence of ICHs was 58%, and the HI rate was 52%; both were higher than the rates reported in the literature. Most of the patients with HI improved clinically, and these patients had second MRAs that showed recanalization. None of the patients with PH demonstrated improvement. Three-tesla MRI may reveal a higher frequency of HI type hemorrhages than lower-field MRIs, and HI may be a predictor of good recovery by reflecting the presence of recanalization. The rate of PH in our study was low compared to other studies, probably due to the lower dosage of rt-PA.","ja":"The purpose of this study was to determine the incidence and clinical correlation of intracranial hemorrhages (ICHs) detected by 3-tesla gradient echo T(2)*-weighted images after intravenous recombinant tissue plasminogen activator (rt-PA) administration. We included 43 consecutive patients with anterior-circulation ischemia who underwent MRI studies before and after thrombolysis. Each hemorrhage was classified as a hemorrhagic infarction (HI) or parenchymal hemorrhage (PH) according to the European Cooperative Acute Stroke Study definition. The clinical outcome was defined as an improvement (> or =4-point reduction) or deterioration (> or =4-point increase) based on a comparison between the initial and the 30-day NIHSS scores. The incidence of ICHs was 58%, and the HI rate was 52%; both were higher than the rates reported in the literature. Most of the patients with HI improved clinically, and these patients had second MRAs that showed recanalization. None of the patients with PH demonstrated improvement. Three-tesla MRI may reveal a higher frequency of HI type hemorrhages than lower-field MRIs, and HI may be a predictor of good recovery by reflecting the presence of recanalization. The rate of PH in our study was low compared to other studies, probably due to the lower dosage of rt-PA."},"publication_date":"2010-04-08","publication_name":{"en":"Cerebrovascular Diseases","ja":"Cerebrovascular Diseases"},"volume":"Vol.29","number":"No.6","starting_page":"571","ending_page":"575","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1159/000306644"],"issn":["1421-9786"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/20211905","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=257217","label":"url"}],"paper_title":{"en":"Undiminished regulatory T cells in the thymus of myathenia gravis patients","ja":"Undiminished regulatory T cells in the thymus of myathenia gravis patients"},"authors":{"en":[{"name":"Matsui Naoko"},{"name":"Nakane Shunya"},{"name":"Saitou Fumi"},{"name":"Ohigashi Izumi"},{"name":"Nakagawa Yasushi"},{"name":"Kurobe Hirotsugu"},{"name":"Takizawa Hiromitsu"},{"name":"Mitsui Takao"},{"name":"Kondo Kazuya"},{"name":"Kitagawa Tetsuya"},{"name":"Takahama Yousuke"},{"name":"Kaji Ryuji"}],"ja":[{"name":"松井 尚子"},{"name":"中根 俊成"},{"name":"Saitou Fumi"},{"name":"大東 いずみ"},{"name":"中川 靖士"},{"name":"黒部 裕嗣"},{"name":"滝沢 宏光"},{"name":"三ツ井 貴夫"},{"name":"近藤 和也"},{"name":"北川 哲也"},{"name":"高浜 洋介"},{"name":"梶 龍兒"}]},"description":{"en":"The thymus has been implicated as a possible site of origin that triggers autoimmunity in myasthenia gravis (MG). Although several groups have suggested that the decrease in the number of regulatory T (Treg) cells contributes to the onset of MG, the exact role of Treg cells in MG remains unclear. To address this point, we examined the number and distribution of Treg cells in a large number of patients with MG. Immunohistofluorescence analysis of Foxp3 along with CD4 and CD8 was performed in thymic sections of MG (+) (n = 24) and MG (-) patients (n = 27). Circulating CD4(+)CD25(+) cells in the peripheral blood of patients with MG (n = 15) and age-matched healthy subjects (n = 15) were also analyzed. Foxp3(+)CD4(+)CD8(-) cells were predominantly found in the thymic medulla and their number declined with age. There was no significant difference in the number or the distribution of Foxp3(+)CD4(+)CD8(-) cells in the thymus between MG (+) and MG (-) patients. The number of circulating CD4(+)CD25(+) cells in the peripheral blood of patients with MG was not significantly altered compared to that in healthy subjects. The cellularity of Treg cells in the thymus and circulation is not diminished in patients with myasthenia gravis.","ja":"The thymus has been implicated as a possible site of origin that triggers autoimmunity in myasthenia gravis (MG). Although several groups have suggested that the decrease in the number of regulatory T (Treg) cells contributes to the onset of MG, the exact role of Treg cells in MG remains unclear. To address this point, we examined the number and distribution of Treg cells in a large number of patients with MG. Immunohistofluorescence analysis of Foxp3 along with CD4 and CD8 was performed in thymic sections of MG (+) (n = 24) and MG (-) patients (n = 27). Circulating CD4(+)CD25(+) cells in the peripheral blood of patients with MG (n = 15) and age-matched healthy subjects (n = 15) were also analyzed. Foxp3(+)CD4(+)CD8(-) cells were predominantly found in the thymic medulla and their number declined with age. There was no significant difference in the number or the distribution of Foxp3(+)CD4(+)CD8(-) cells in the thymus between MG (+) and MG (-) patients. The number of circulating CD4(+)CD25(+) cells in the peripheral blood of patients with MG was not significantly altered compared to that in healthy subjects. The cellularity of Treg cells in the thymus and circulation is not diminished in patients with myasthenia gravis."},"publication_date":"2010-03-09","publication_name":{"en":"Neurology","ja":"Neurology"},"volume":"Vol.74","number":"No.10","starting_page":"816","ending_page":"820","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1212/WNL.0b013e3181d31e47"],"issn":["1526-632X"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/19637241","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-74049095937&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=324309","label":"url"}],"paper_title":{"en":"Inflammatory disease and cancer with a decrease in Kupffer cell numbers in Nucling-knockout mice.","ja":"Inflammatory disease and cancer with a decrease in Kupffer cell numbers in Nucling-knockout mice."},"authors":{"en":[{"name":"Sakai Takashi"},{"name":"Liu Li"},{"name":"Teng Xichuan"},{"name":"Ishimaru Naozumi"},{"name":"Mukai-Sakai Rika"},{"name":"Tran HoangNam"},{"name":"Kim Mi Sun"},{"name":"Sano Nobuya"},{"name":"Hayashi Yoshio"},{"name":"Kaji Ryuji"},{"name":"Fukui Kiyoshi"}],"ja":[{"name":"坂井 隆志"},{"name":"劉 莉"},{"name":"滕 錫川"},{"name":"石丸 直澄"},{"name":"坂井 利佳"},{"name":"チャン ホアンナム"},{"name":"金 善美"},{"name":"佐野 暢哉"},{"name":"林 良夫"},{"name":"梶 龍兒"},{"name":"福井 清"}]},"description":{"en":"Nucling is a stress-inducible protein associated with apoptosomes. The cytochrome c-triggered formation of apoptosomes represents a key-initiating event in apoptosis. We have recently reported that Nucling regulates the apoptotic pathway by controlling the activation of NF-kappaB as well. Here we show that hepatocellular carcinoma (HCC) arising spontaneously against a background of hepatitis occurred more frequently in Nucling-knockout (KO) mice than wild-type (WT) mice. Biochemical serum testing revealed potential liver dysfunction with hypercholesterolemia in Nucling-KO males. In the background of Nucling-KO mice, we observed the up-regulation of TNFalpha, spontaneous NF-kappaB-activation and the induction of galectin-3 expression in liver. In addition, we observed a decrease in the number of Kupffer cells (KCs) in the KO mice. KCs are important for the hepatic immune system, acting as phagocytes or antigen-presenting cells (APCs). We found that KCs in Nucling-KO mice were apoptotic possibly through the up-regulation of TNFalpha. These observations indicate that Nucling is important for the regulation of NF-kappaB signals in liver. We propose that Nucling deficiency could be a powerful tool to reveal the NF-kappaB-related molecular networks leading to hepatitis and HCC development.","ja":"Nucling is a stress-inducible protein associated with apoptosomes. The cytochrome c-triggered formation of apoptosomes represents a key-initiating event in apoptosis. We have recently reported that Nucling regulates the apoptotic pathway by controlling the activation of NF-kappaB as well. Here we show that hepatocellular carcinoma (HCC) arising spontaneously against a background of hepatitis occurred more frequently in Nucling-knockout (KO) mice than wild-type (WT) mice. Biochemical serum testing revealed potential liver dysfunction with hypercholesterolemia in Nucling-KO males. In the background of Nucling-KO mice, we observed the up-regulation of TNFalpha, spontaneous NF-kappaB-activation and the induction of galectin-3 expression in liver. In addition, we observed a decrease in the number of Kupffer cells (KCs) in the KO mice. KCs are important for the hepatic immune system, acting as phagocytes or antigen-presenting cells (APCs). We found that KCs in Nucling-KO mice were apoptotic possibly through the up-regulation of TNFalpha. These observations indicate that Nucling is important for the regulation of NF-kappaB signals in liver. We propose that Nucling deficiency could be a powerful tool to reveal the NF-kappaB-related molecular networks leading to hepatitis and HCC development."},"publication_date":"2010-03-01","publication_name":{"en":"International Journal of Cancer","ja":"International Journal of Cancer"},"volume":"Vol.126","number":"No.5","starting_page":"1079","ending_page":"1094","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1002/ijc.24789"],"issn":["1097-0215"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/76612","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/20299746","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=231035","label":"url"}],"paper_title":{"en":"Relationship between Barthel Index scores during the acute phase of rehabilitation and subsequent ADL in stroke patients.","ja":"Relationship between Barthel Index scores during the acute phase of rehabilitation and subsequent ADL in stroke patients."},"authors":{"en":[{"name":"Nakao Shigetaka"},{"name":"Takata Shinjiro"},{"name":"Uemura Hirokazu"},{"name":"Kashihara Michiharu"},{"name":"Osawa Toshifumi"},{"name":"Komatsu Koji"},{"name":"Masuda Yuki"},{"name":"Okahisa Tetsuya"},{"name":"Noshikawa Koji"},{"name":"Kondo Shin"},{"name":"Yamada Megumi"},{"name":"Takahara Risa"},{"name":"Ogata Yoshimi"},{"name":"Nakamura Yuka"},{"name":"Nagahiro Sinji"},{"name":"Kaji Ryuji"},{"name":"Yasui Natsuo"}],"ja":[{"name":"中尾 成孝"},{"name":"髙田 信二郎"},{"name":"上村 浩一"},{"name":"Kashihara Michiharu"},{"name":"Osawa Toshifumi"},{"name":"Komatsu Koji"},{"name":"Masuda Yuki"},{"name":"Okahisa Tetsuya"},{"name":"Noshikawa Koji"},{"name":"Kondo Shin"},{"name":"Yamada Megumi"},{"name":"Takahara Risa"},{"name":"Ogata Yoshimi"},{"name":"Nakamura Yuka"},{"name":"Nagahiro Sinji"},{"name":"梶 龍兒"},{"name":"安井 夏生"}]},"description":{"en":"The Barthel Index (BI) cannot be used to measure initial stroke severity or by extension, to stratify patients by severity in acute stroke trials because most patients are bedbound in the first few hours after stroke, either by their deficit or by medical directive. Our objectives were to clarify the threshold of acute BI for use in the prediction of subsequent independence in activities of daily living (ADL) and to assist in the definition of acute stroke rehabilitation goals. Subjects comprised 78 patients out of 191 inpatients admitted with acute stroke at our hospital during 2006-2007. The BI ADL score was divided into 2 ranges (BI> or =60 and < or =40), in a process similar to previous studies. During the acute period (from onset to approximately 3 weeks), all patients with a BI> or =40 could improve their ADL in 6 months. Patients with a BI< or =40 exhibited two ADL recovery outcomes (improved and no change) at 6 months. We also found that the skill level of basic activities related to standing was significant indicator of BI improvement (P<0.001). BI scores determined at approximately 3 weeks were reliable predictors of ADL disabilities at 6 months.","ja":"The Barthel Index (BI) cannot be used to measure initial stroke severity or by extension, to stratify patients by severity in acute stroke trials because most patients are bedbound in the first few hours after stroke, either by their deficit or by medical directive. Our objectives were to clarify the threshold of acute BI for use in the prediction of subsequent independence in activities of daily living (ADL) and to assist in the definition of acute stroke rehabilitation goals. Subjects comprised 78 patients out of 191 inpatients admitted with acute stroke at our hospital during 2006-2007. The BI ADL score was divided into 2 ranges (BI> or =60 and < or =40), in a process similar to previous studies. During the acute period (from onset to approximately 3 weeks), all patients with a BI> or =40 could improve their ADL in 6 months. Patients with a BI< or =40 exhibited two ADL recovery outcomes (improved and no change) at 6 months. We also found that the skill level of basic activities related to standing was significant indicator of BI improvement (P<0.001). BI scores determined at approximately 3 weeks were reliable predictors of ADL disabilities at 6 months."},"publication_date":"2010-02","publication_name":{"en":"The Journal of Medical Investigation : JMI","ja":"The Journal of Medical Investigation : JMI"},"volume":"Vol.57","number":"No.1-2","starting_page":"81","ending_page":"88","languages":["eng"],"referee":true,"identifiers":{"doi":["10.2152/jmi.57.81"],"issn":["1349-6867"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/68054","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/20299749","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=209868","label":"url"}],"paper_title":{"en":"Very low-frequency rTMS modulates SEPs over the contralateral hemisphere.","ja":"Very low-frequency rTMS modulates SEPs over the contralateral hemisphere."},"authors":{"en":[{"name":"Uguisu Haruo"},{"name":"Urushihara Ryo"},{"name":"Hosono Yuki"},{"name":"Asanuma Koutaro"},{"name":"Shimazu Hideki"},{"name":"Murase Nagako"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Uguisu Haruo"},{"name":"Urushihara Ryo"},{"name":"Hosono Yuki"},{"name":"浅沼 光太郎"},{"name":"島津 秀紀"},{"name":"村瀬 永子"},{"name":"梶 龍兒"}]},"description":{"en":"In order to investigate the transcallosal effects of repetitive transcranial magnetic stimulation (rTMS), we studied median somatosensory evoked potentials (SEPs) before and after applying monophasic very low-frequency (0.2 Hz) subthreshold rTMS over the right motor cortex. For SEPs, median nerve was stimulated on each side. Sham rTMS served as the control. Twelve healthy subjects participated in this study. After rTMS over the right hemisphere, the amplitude of N34 component in right median SEPs recorded from the left parietal scalp (C3') increased significantly. Other components of right or left median SEPs or those after sham stimulation showed no changes. Monophasic 0.2 Hz subthreshold rTMS over the motor cortex predominantly affected the contralateral SEPs, probably through the transcallosal pathway.","ja":"In order to investigate the transcallosal effects of repetitive transcranial magnetic stimulation (rTMS), we studied median somatosensory evoked potentials (SEPs) before and after applying monophasic very low-frequency (0.2 Hz) subthreshold rTMS over the right motor cortex. For SEPs, median nerve was stimulated on each side. Sham rTMS served as the control. Twelve healthy subjects participated in this study. After rTMS over the right hemisphere, the amplitude of N34 component in right median SEPs recorded from the left parietal scalp (C3') increased significantly. Other components of right or left median SEPs or those after sham stimulation showed no changes. Monophasic 0.2 Hz subthreshold rTMS over the motor cortex predominantly affected the contralateral SEPs, probably through the transcallosal pathway."},"publication_date":"2010-02","publication_name":{"en":"The Journal of Medical Investigation : JMI","ja":"The Journal of Medical Investigation : JMI"},"volume":"Vol.57","number":"No.1-2","starting_page":"109","ending_page":"113","languages":["eng"],"referee":true,"identifiers":{"doi":["10.2152/jmi.57.109"],"issn":["1349-6867"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"http://ci.nii.ac.jp/naid/40019066124/","label":"url"},{"@id":"https://cir.nii.ac.jp/crid/1523106605998613120/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=257216","label":"url"}],"paper_title":{"en":"Neurological manifestations in hereditary hemorrhagic telangiectasia type 1: a familial case in Japan","ja":"Neurological manifestations in hereditary hemorrhagic telangiectasia type 1: a familial case in Japan"},"authors":{"en":[{"name":"Matsui Naoko"},{"name":"Izumi Yuishin"},{"name":"Azuma Hiroyuki"},{"name":"Kaji Ryuji"}],"ja":[{"name":"松井 尚子"},{"name":"和泉 唯信"},{"name":"東 博之"},{"name":"梶 龍兒"}]},"publication_date":"2010-01","publication_name":{"en":"Journal of Tokushima National Hospital","ja":"Journal of Tokushima National Hospital"},"volume":"Vol.2010","number":"No.1","starting_page":"11","ending_page":"14","languages":["eng"],"referee":true,"identifiers":{"issn":["2185-3169"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://cir.nii.ac.jp/crid/1521417755873818112/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=298057","label":"url"}],"paper_title":{"en":"脳死様状態を呈したGuillain-Barre症候群の1例","ja":"脳死様状態を呈したGuillain-Barre症候群の1例"},"authors":{"en":[{"name":"Miyazaki Yoshimichi"},{"name":"向井 洋平"},{"name":"Asanuma Koutaro"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"宮﨑 由道"},{"name":"向井 洋平"},{"name":"浅沼 光太郎"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"脳死様状態を呈した劇症型GBSの症例を救命しえた.GBSの中に,急性に脳死様状態を呈し,α昏睡をきたす劇症型GBSの一群の存在が示唆された.脳死様状態を呈する劇症型GBSでは死亡症例も多く,厳重な全身管理が必要である.(著者抄録)","ja":"脳死様状態を呈した劇症型GBSの症例を救命しえた.GBSの中に,急性に脳死様状態を呈し,α昏睡をきたす劇症型GBSの一群の存在が示唆された.脳死様状態を呈する劇症型GBSでは死亡症例も多く,厳重な全身管理が必要である.(著者抄録)"},"publication_date":"2010","publication_name":{"en":"Clinical Electroencephalography","ja":"臨床脳波"},"volume":"Vol.52","number":"No.2","starting_page":"123","ending_page":"125","languages":["jpn"],"referee":true,"identifiers":{"issn":["0485-1447"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://cir.nii.ac.jp/crid/1523951030929400320/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=298033","label":"url"}],"paper_title":{"en":"A case of cryptococcal meningitis successfully treated with liposomal amphotericin-B, Fulcytosine, and Voriconazole","ja":"A case of cryptococcal meningitis successfully treated with liposomal amphotericin-B, Fulcytosine, and Voriconazole"},"authors":{"en":[{"name":"Miyazaki Yoshimichi"},{"name":"Miyashiro Ai"},{"name":"Simatani Yoshimitsu"},{"name":"Matsui Naoko"},{"name":"Asanuma Koutaro"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"宮﨑 由道"},{"name":"宮城 愛"},{"name":"Simatani Yoshimitsu"},{"name":"松井 尚子"},{"name":"浅沼 光太郎"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"クリプトコッカス性髄膜炎の59歳男性症例について検討した.発熱と頭痛を主訴とし,風邪と診断さたが,嘔吐,意識障害,歩行困難の症状が出現し,発症から16日目に入院となった.入院時に意識障害と強い傾眠傾向が認められた.右眼の対光反射が鈍く,瞳孔径の左右差が認められた.顕著な頸部硬直も認められた.ウイルス関連抗原抗体は陰性であった.脳脊髄液はキサントクロミーを呈しており,脳脊髄液圧,脳脊髄液中の細胞数と蛋白濃度の上昇,脳脊髄液中の糖濃度低下が認められた.May-Giemsa染色および墨汁染色では莢膜を有する菌体が多数確認された.Cryptococcus抗原の256倍上昇が示された.頭部のガドリニウム造影MRI検査で脳溝に沿った造影像を認めた.クリプトコッカス性髄膜炎と診断し,liposomal amphotericin-Bおよびfulcytosineによる2剤療法を開始した.臨床検査結果および脳脊髄液検査結果は徐々に改善したが,入院45日目に左顔面麻痺が出現した.MRI検査から新しい病変が確認され,造影MRI検査で造影病変の拡大を認めた.Voriconazole追加による3剤療法を開始した.脳脊髄液検査結果および臨床症状の改善を示し,入院180日目に退院となった.左顔面麻痺も徐々に改善した.","ja":"クリプトコッカス性髄膜炎の59歳男性症例について検討した.発熱と頭痛を主訴とし,風邪と診断さたが,嘔吐,意識障害,歩行困難の症状が出現し,発症から16日目に入院となった.入院時に意識障害と強い傾眠傾向が認められた.右眼の対光反射が鈍く,瞳孔径の左右差が認められた.顕著な頸部硬直も認められた.ウイルス関連抗原抗体は陰性であった.脳脊髄液はキサントクロミーを呈しており,脳脊髄液圧,脳脊髄液中の細胞数と蛋白濃度の上昇,脳脊髄液中の糖濃度低下が認められた.May-Giemsa染色および墨汁染色では莢膜を有する菌体が多数確認された.Cryptococcus抗原の256倍上昇が示された.頭部のガドリニウム造影MRI検査で脳溝に沿った造影像を認めた.クリプトコッカス性髄膜炎と診断し,liposomal amphotericin-Bおよびfulcytosineによる2剤療法を開始した.臨床検査結果および脳脊髄液検査結果は徐々に改善したが,入院45日目に左顔面麻痺が出現した.MRI検査から新しい病変が確認され,造影MRI検査で造影病変の拡大を認めた.Voriconazole追加による3剤療法を開始した.脳脊髄液検査結果および臨床症状の改善を示し,入院180日目に退院となった.左顔面麻痺も徐々に改善した."},"publication_date":"2010","publication_name":{"en":"Journal of Tokushima National Hospital","ja":"Journal of Tokushima National Hospital"},"volume":"Vol.1","starting_page":"31","ending_page":"34","languages":["eng"],"referee":true,"identifiers":{"issn":["2185-3169"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/19762910","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=194800","label":"url"}],"paper_title":{"en":"Increasing incidence of elderly onset patients with myasthenia gravis in a local area of Japan","ja":"Increasing incidence of elderly onset patients with myasthenia gravis in a local area of Japan"},"authors":{"en":[{"name":"Matsui Naoko"},{"name":"Nakane S"},{"name":"Nakagawa Y"},{"name":"Kondo Kazuya"},{"name":"Mitsui T"},{"name":"Matsumoto T"},{"name":"Arisawa Kokichi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Matsui Naoko"},{"name":"Nakane S"},{"name":"Nakagawa Y"},{"name":"近藤 和也"},{"name":"Mitsui T"},{"name":"Matsumoto T"},{"name":"有澤 孝吉"},{"name":"梶 龍兒"}]},"description":{"en":"As the number of elderly patients with myasthenia gravis (MG) has recently increased in Europe and the USA, a retrospective survey of Japanese MG patients was conducted in a single neurological centre over several decades. The study consisted of 112 consecutive MG patients with onset of the disease from 1971 to 2006 from an area of approximately 0.8 million inhabitants in Japan. Patients were classified into three subgroups according to age at onset: young onset (39 years old), middle aged onset (40-59 years old) and elderly onset (60 years old). The trends in incidence rate and clinical features were examined: disease severity, seropositivity for antiacetylcholine receptor antibody, occurrence of other autoimmune diseases, occurrence of thymoma and therapeutic response. The onset adjusted age specific average annual incidence per 100,000 of the elderly onset MG patients increased 20-fold from 1981-1990 (0.06; 95% CI 0.00 to 0.36) to 2001-2006 (1.30; 95% CI 0.77 to 2.05). Clinical features of the elderly onset MG patients included low antiacetylcholine receptor antibody titres (mean 24.6 nmol/l), less frequent autoimmune overlaps (8.0%) and nearly no complete stable remission with or without thymectomy. The increasing incidence of elderly onset MG in Japanese patients similar to that reported in Caucasians has been confirmed. The clinical features suggest different immunological backgrounds between young onset and elderly onset MG patients, irrespective of the ethnic background.","ja":"As the number of elderly patients with myasthenia gravis (MG) has recently increased in Europe and the USA, a retrospective survey of Japanese MG patients was conducted in a single neurological centre over several decades. The study consisted of 112 consecutive MG patients with onset of the disease from 1971 to 2006 from an area of approximately 0.8 million inhabitants in Japan. Patients were classified into three subgroups according to age at onset: young onset (39 years old), middle aged onset (40-59 years old) and elderly onset (60 years old). The trends in incidence rate and clinical features were examined: disease severity, seropositivity for antiacetylcholine receptor antibody, occurrence of other autoimmune diseases, occurrence of thymoma and therapeutic response. The onset adjusted age specific average annual incidence per 100,000 of the elderly onset MG patients increased 20-fold from 1981-1990 (0.06; 95% CI 0.00 to 0.36) to 2001-2006 (1.30; 95% CI 0.77 to 2.05). Clinical features of the elderly onset MG patients included low antiacetylcholine receptor antibody titres (mean 24.6 nmol/l), less frequent autoimmune overlaps (8.0%) and nearly no complete stable remission with or without thymectomy. The increasing incidence of elderly onset MG in Japanese patients similar to that reported in Caucasians has been confirmed. The clinical features suggest different immunological backgrounds between young onset and elderly onset MG patients, irrespective of the ethnic background."},"publication_date":"2009-09-15","publication_name":{"en":"Journal of Neurology, Neurosurgery, and Psychiatry","ja":"Journal of Neurology, Neurosurgery, and Psychiatry"},"volume":"Vol.80","number":"No.10","starting_page":"1168","ending_page":"1171","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1136/jnnp.2008.152637"],"issn":["1468-330X"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/19353719","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-67651156100&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=283860","label":"url"}],"paper_title":{"en":"Subthalamic nucleus deep brain stimulation for camptocormia associated with Parkinson's disease","ja":"Subthalamic nucleus deep brain stimulation for camptocormia associated with Parkinson's disease"},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Nishioka Masanori"},{"name":"Maruo Tomoyuki"},{"name":"Shimazu Hideki"},{"name":"Matsuzaki Kazuhito"},{"name":"Tamura Tetsuya"},{"name":"Mure Hideo"},{"name":"Ushio Yukitaka"},{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"},{"name":"Goto Satoshi"}],"ja":[{"name":"佐光 亘"},{"name":"西岡 将規"},{"name":"Maruo Tomoyuki"},{"name":"島津 秀紀"},{"name":"松﨑 和仁"},{"name":"田村 哲也"},{"name":"牟礼 英生"},{"name":"Ushio Yukitaka"},{"name":"永廣 信治"},{"name":"梶 龍兒"},{"name":"後藤 惠"}]},"description":{"en":"Camptocormia becomes increasingly recognized as a disabling symptom associated with Parkinson's disease (PD). We here report six patients with advanced PD in whom continuous bilateral stimulation of the subthalamic nucleus produced substantial (mean 78% +/- 9.1% of the thoracolumbar angle) improvement of camptocormia along with other motor symptoms.","ja":"Camptocormia becomes increasingly recognized as a disabling symptom associated with Parkinson's disease (PD). We here report six patients with advanced PD in whom continuous bilateral stimulation of the subthalamic nucleus produced substantial (mean 78% +/- 9.1% of the thoracolumbar angle) improvement of camptocormia along with other motor symptoms."},"publication_date":"2009-05-15","publication_name":{"en":"Movement Disorders","ja":"Movement Disorders"},"volume":"Vol.24","number":"No.7","starting_page":"1076","ending_page":"1079","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1002/mds.22529"],"issn":["1531-8257"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/19187222","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-60349104730&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=187089","label":"url"}],"paper_title":{"en":"Nucling interacts with nuclear factor-B, regulating its cellular distribution","ja":"Nucling interacts with nuclear factor-B, regulating its cellular distribution"},"authors":{"en":[{"name":"Liu Li"},{"name":"Sakai Takashi"},{"name":"Tran HoangNam"},{"name":"Mukai-Sakai Rika"},{"name":"Kaji Ryuji"},{"name":"Fukui Kiyoshi"}],"ja":[{"name":"劉 莉"},{"name":"坂井 隆志"},{"name":"チャン ホアンナム"},{"name":"坂井 利佳"},{"name":"梶 龍兒"},{"name":"福井 清"}]},"description":{"en":"Nucling is an Apaf1-binding proapoptotic protein involved in apoptosome-mediated apoptosis. Luciferase assays have revealed that the activation of nuclear factor-kappaB induced by tumor necrosis factor-alpha, interleukin-1beta and lipopolysaccharide is downregulated by the overexpression of Nucling in HEK293 cells. Moreover, the expression of endogenous cyclooxygenase 2, tumor necrosis factor-alpha and galectin-3, the end-point molecules in the pathway for the activation of nuclear factor-kappaB, as well as nuclear factor-kappaB (p65) itself, is upregulated in Nucling gene-deficient mouse embryonic fibroblasts, suggesting that nuclear factor-kappaB is a target of Nucling. Subsequent study has revealed that Nucling physically interacts with nuclear factor-kappaB (p65 and p50) and that the binding domain of Nucling is its amino-terminal region (amino acids 1-466) containing ankyrin repeats. Overexpression of Nucling prevents the translocation of nuclear factor-kappaB into the nucleus. In addition, the cytoplasmic retention of endogenous nuclear factor-kappaB in resting cells is not observed in Nucling gene-deficient mouse embryonic fibroblasts. These results reveal a novel function of Nucling as a suppressor of nuclear factor-kappaB, mediated by its cytoplasmic retention through physical interaction.","ja":"Nucling is an Apaf1-binding proapoptotic protein involved in apoptosome-mediated apoptosis. Luciferase assays have revealed that the activation of nuclear factor-kappaB induced by tumor necrosis factor-alpha, interleukin-1beta and lipopolysaccharide is downregulated by the overexpression of Nucling in HEK293 cells. Moreover, the expression of endogenous cyclooxygenase 2, tumor necrosis factor-alpha and galectin-3, the end-point molecules in the pathway for the activation of nuclear factor-kappaB, as well as nuclear factor-kappaB (p65) itself, is upregulated in Nucling gene-deficient mouse embryonic fibroblasts, suggesting that nuclear factor-kappaB is a target of Nucling. Subsequent study has revealed that Nucling physically interacts with nuclear factor-kappaB (p65 and p50) and that the binding domain of Nucling is its amino-terminal region (amino acids 1-466) containing ankyrin repeats. Overexpression of Nucling prevents the translocation of nuclear factor-kappaB into the nucleus. In addition, the cytoplasmic retention of endogenous nuclear factor-kappaB in resting cells is not observed in Nucling gene-deficient mouse embryonic fibroblasts. These results reveal a novel function of Nucling as a suppressor of nuclear factor-kappaB, mediated by its cytoplasmic retention through physical interaction."},"publication_date":"2009-03-05","publication_name":{"en":"The FEBS Journal","ja":"The FEBS Journal"},"volume":"Vol.276","number":"No.5","starting_page":"1459","ending_page":"1470","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1111/j.1742-4658.2009.06888.x"],"issn":["1742-4658"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"http://ci.nii.ac.jp/naid/10029744489/","label":"url"},{"@id":"https://cir.nii.ac.jp/crid/1571698599954730496/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=262281","label":"url"}],"paper_title":{"en":"Bilateral pallidal stimulation for dropped head syndrome in tardive dystonia","ja":"遅発性ジストニアにおけるdropped head syndromeに対する両側淡蒼球深部脳刺激術"},"authors":{"en":[{"name":"佐光 亘"},{"name":"Shimazu Hideki"},{"name":"Matsuzaki Kazuhito"},{"name":"Nagahiro Shinji"},{"name":"Murase Nagako"},{"name":"Kaji Ryuji"},{"name":"Goto Satoshi"}],"ja":[{"name":"佐光 亘"},{"name":"島津 秀紀"},{"name":"松﨑 和仁"},{"name":"永廣 信治"},{"name":"村瀬 永子"},{"name":"梶 龍兒"},{"name":"後藤 惠"}]},"publication_date":"2008-12-25","publication_name":{"en":"Functional Neurosurgery","ja":"機能的脳神経外科"},"volume":"Vol.47","number":"No.2","starting_page":"111","ending_page":"113","languages":["jpn"],"referee":true,"identifiers":{"issn":["1344-9699"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/18785227","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=283854","label":"url"}],"paper_title":{"en":"Bilateral deep brain stimulation of the globus pallidus internus in tardive dystonia","ja":"Bilateral deep brain stimulation of the globus pallidus internus in tardive dystonia"},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Goto Satoshi"},{"name":"Shimazu Hideki"},{"name":"Murase Nagako"},{"name":"Matsuzaki Kazuhito"},{"name":"Tamura Tetsuya"},{"name":"Mure Hideo"},{"name":"Tomogane Yusuke"},{"name":"Arita Noriko"},{"name":"Yoshikawa Hiroo"},{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"}],"ja":[{"name":"佐光 亘"},{"name":"後藤 惠"},{"name":"島津 秀紀"},{"name":"村瀬 永子"},{"name":"松﨑 和仁"},{"name":"田村 哲也"},{"name":"牟礼 英生"},{"name":"Tomogane Yusuke"},{"name":"Arita Noriko"},{"name":"Yoshikawa Hiroo"},{"name":"永廣 信治"},{"name":"梶 龍兒"}]},"description":{"en":"Tardive dystonia is a disabling movement disorder as a consequence of exposure to neuroleptic drugs. We followed 6 patients with medically refractory tardive dystonia treated by bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) for 21 +/- 18 months. At last follow-up, the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) motor score improved by 86% +/- 14%, and the BFMDRS disability score improved by 80% +/- 12%. Bilateral GPi-DBS is a beneficial therapeutic option for the long-term relief of tardive dystonia.","ja":"Tardive dystonia is a disabling movement disorder as a consequence of exposure to neuroleptic drugs. We followed 6 patients with medically refractory tardive dystonia treated by bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) for 21 +/- 18 months. At last follow-up, the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) motor score improved by 86% +/- 14%, and the BFMDRS disability score improved by 80% +/- 12%. Bilateral GPi-DBS is a beneficial therapeutic option for the long-term relief of tardive dystonia."},"publication_date":"2008-10-15","publication_name":{"en":"Movement Disorders","ja":"Movement Disorders"},"volume":"Vol.23","number":"No.13","starting_page":"1929","ending_page":"1931","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1002/mds.22100"],"issn":["1531-8257"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/18713855","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=262485","label":"url"}],"paper_title":{"en":"Differential involvement of striosome and matrix dopamine systems in a transgenic model of dopa-responsive dystonia","ja":"Differential involvement of striosome and matrix dopamine systems in a transgenic model of dopa-responsive dystonia"},"authors":{"en":[{"name":"Sato Kenta"},{"name":"Sumi-Ichinose Chiho"},{"name":"Kaji Ryuji"},{"name":"Ikemoto Kazuhisa"},{"name":"Nomura Takahide"},{"name":"Nagatsu Ikuko"},{"name":"Ichinose Hiroshi"},{"name":"Ito Masayuki"},{"name":"Sako Wataru"},{"name":"Nagahiro Shinji"},{"name":"Graybiel M. Ann"},{"name":"Goto Satoshi"}],"ja":[{"name":"Sato Kenta"},{"name":"Sumi-Ichinose Chiho"},{"name":"梶 龍兒"},{"name":"Ikemoto Kazuhisa"},{"name":"Nomura Takahide"},{"name":"Nagatsu Ikuko"},{"name":"Ichinose Hiroshi"},{"name":"Ito Masayuki"},{"name":"佐光 亘"},{"name":"永廣 信治"},{"name":"Graybiel M. Ann"},{"name":"後藤 惠"}]},"description":{"en":"Dopa-responsive dystonia (DRD) is a hereditary dystonia characterized by a childhood onset of fixed dystonic posture with a dramatic and sustained response to relatively low doses of levodopa. DRD is thought to result from striatal dopamine deficiency due to a reduced synthesis and activity of tyrosine hydroxylase (TH), the synthetic enzyme for dopamine. The mechanisms underlying the genesis of dystonia in DRD present a challenge to models of basal ganglia movement control, given that striatal dopamine deficiency is the hallmark of Parkinson's disease. We report here behavioral and anatomical observations on a transgenic mouse model for DRD in which the gene for 6-pyruvoyl-tetrahydropterin synthase is targeted to render selective dysfunction of TH synthesis in the striatum. Mutant mice exhibited motor deficits phenotypically resembling symptoms of human DRD and manifested a major depletion of TH labeling in the striatum, with a marked posterior-to-anterior gradient resulting in near total loss caudally. Strikingly, within the regions of remaining TH staining in the striatum, there was a greater loss of TH labeling in striosomes than in the surrounding matrix. The predominant loss of TH expression in striosomes occurred during the early postnatal period, when motor symptoms first appeared. We suggest that the differential striosome-matrix pattern of dopamine loss could be a key to identifying the mechanisms underlying the genesis of dystonia in DRD.","ja":"Dopa-responsive dystonia (DRD) is a hereditary dystonia characterized by a childhood onset of fixed dystonic posture with a dramatic and sustained response to relatively low doses of levodopa. DRD is thought to result from striatal dopamine deficiency due to a reduced synthesis and activity of tyrosine hydroxylase (TH), the synthetic enzyme for dopamine. The mechanisms underlying the genesis of dystonia in DRD present a challenge to models of basal ganglia movement control, given that striatal dopamine deficiency is the hallmark of Parkinson's disease. We report here behavioral and anatomical observations on a transgenic mouse model for DRD in which the gene for 6-pyruvoyl-tetrahydropterin synthase is targeted to render selective dysfunction of TH synthesis in the striatum. Mutant mice exhibited motor deficits phenotypically resembling symptoms of human DRD and manifested a major depletion of TH labeling in the striatum, with a marked posterior-to-anterior gradient resulting in near total loss caudally. Strikingly, within the regions of remaining TH staining in the striatum, there was a greater loss of TH labeling in striosomes than in the surrounding matrix. The predominant loss of TH expression in striosomes occurred during the early postnatal period, when motor symptoms first appeared. We suggest that the differential striosome-matrix pattern of dopamine loss could be a key to identifying the mechanisms underlying the genesis of dystonia in DRD."},"publication_date":"2008-08-19","publication_name":{"en":"Proceedings of the National Academy of Sciences of the United States of America","ja":"Proceedings of the National Academy of Sciences of the United States of America"},"volume":"Vol.105","number":"No.34","starting_page":"12551","ending_page":"12556","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1073/pnas.0806065105"],"issn":["1091-6490"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/18413578","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=262282","label":"url"}],"paper_title":{"en":"Thalamic Vo-complex vs pallidal deep brain stimulation for focal hand dystonia","ja":"Thalamic Vo-complex vs pallidal deep brain stimulation for focal hand dystonia"},"authors":{"en":[{"name":"Goto Satoshi"},{"name":"Shimazu Hideki"},{"name":"Matsuzaki Kazuhito"},{"name":"Tamura Tetsuya"},{"name":"Murase Nagako"},{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"}],"ja":[{"name":"後藤 惠"},{"name":"島津 秀紀"},{"name":"松﨑 和仁"},{"name":"田村 哲也"},{"name":"村瀬 永子"},{"name":"永廣 信治"},{"name":"梶 龍兒"}]},"publication_date":"2008-04-15","publication_name":{"en":"Neurology","ja":"Neurology"},"volume":"Vol.70","number":"No.16","starting_page":"1500","ending_page":"1501","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1212/01.wnl.0000310430.00743.11"],"issn":["1526-632X"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"http://ci.nii.ac.jp/naid/10027053083/","label":"url"},{"@id":"https://cir.nii.ac.jp/crid/1573387451037736320/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=187012","label":"url"}],"paper_title":{"en":"3 Tesla T2^*-weighted MRI demonstrating an intra-MCA embolus in a young adult with cerebral embolism","ja":"3 Tesla T2 *強調MRIで中大脳動脈内塞栓子を呈した若年性脳塞栓症の1例"},"authors":{"en":[{"name":"河北 直也"},{"name":"Fujita Koji"},{"name":"Mitsui Takao"},{"name":"Izumi Yuishin"},{"name":"Suzue Atsuhiko"},{"name":"Uno Masaaki"},{"name":"Satoh Koichi"},{"name":"Nagahiro Shinji"},{"name":"Yamada Hirotsugu"},{"name":"Morita Naomi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"河北 直也"},{"name":"藤田 浩司"},{"name":"三ツ井 貴夫"},{"name":"和泉 唯信"},{"name":"鈴江 淳彦"},{"name":"宇野 昌明"},{"name":"佐藤 浩一"},{"name":"永廣 信治"},{"name":"山田 博胤"},{"name":"森田 奈緒美"},{"name":"梶 龍兒"}]},"publication_date":"2007-05-25","publication_name":{"en":"Japanese Journal of Stroke","ja":"脳卒中"},"volume":"Vol.29","number":"No.3","starting_page":"469","ending_page":"473","referee":true,"identifiers":{"doi":["10.3995/jstroke.29.469"],"issn":["0912-0726"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=271788","label":"url"}],"paper_title":{"en":"健常者に発症し治療に難渋したクリプトコッカス髄膜脳炎の1例","ja":"健常者に発症し治療に難渋したクリプトコッカス髄膜脳炎の1例"},"authors":{"en":[{"name":"Matsui Naoko"},{"name":"Nakane Shunya"},{"name":"Izumi Yuishin"},{"name":"Nagahiro Shinji"},{"name":"西田 善彦"},{"name":"Kaji Ryuji"}],"ja":[{"name":"松井 尚子"},{"name":"中根 俊成"},{"name":"和泉 唯信"},{"name":"永廣 信治"},{"name":"西田 善彦"},{"name":"梶 龍兒"}]},"publication_date":"2007","publication_name":{"en":"Neurological Therapeutics","ja":"神経治療学"},"volume":"Vol.24","starting_page":"497","ending_page":"502","languages":["jpn"],"referee":true,"identifiers":{"issn":["0916-8443"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=271783","label":"url"}],"paper_title":{"en":"1.5 Tesla Stroke Unit MRI: 画像診断の新展開","ja":"1.5 Tesla Stroke Unit MRI: 画像診断の新展開"},"authors":{"en":[{"name":"Harada Masafumi"},{"name":"Morita Naomi"},{"name":"Nishitani Hiromu"},{"name":"Uno Masaaki"},{"name":"Nagahiro Shinji"},{"name":"Nakane Shunya"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"原田 雅史"},{"name":"森田 奈緒美"},{"name":"西谷 弘"},{"name":"宇野 昌明"},{"name":"永廣 信治"},{"name":"中根 俊成"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"publication_date":"2007","publication_name":{"en":"分子脳血管病","ja":"分子脳血管病"},"volume":"Vol.6","starting_page":"258","ending_page":"263","languages":["jpn"],"referee":true,"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/16830314","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=271799","label":"url"}],"paper_title":{"en":"Impact of bilateral pallidal stimulation on DYT1-generalized dystonia in Japanese patients","ja":"Impact of bilateral pallidal stimulation on DYT1-generalized dystonia in Japanese patients"},"authors":{"en":[{"name":"Goto Satoshi"},{"name":"Yamada K"},{"name":"Shimazu Hideki"},{"name":"Murase Nagako"},{"name":"Matsuzaki Kazuhito"},{"name":"Tamura Tetsuya"},{"name":"Nagahiro Shinji"},{"name":"Kuratsu J"},{"name":"Kaji Ryuji"}],"ja":[{"name":"後藤 惠"},{"name":"Yamada K"},{"name":"島津 秀紀"},{"name":"村瀬 永子"},{"name":"松﨑 和仁"},{"name":"田村 哲也"},{"name":"永廣 信治"},{"name":"Kuratsu J"},{"name":"梶 龍兒"}]},"description":{"en":"Early-onset generalized dystonia attributable to a DYT1 gene mutation is a hyperkinetic movement disorder that responds poorly to pharmacotherapy. In this video brief, we show that continuous bilateral stimulation of the globus pallidus internus produced sustained and marked improvements in the motor symptoms and functional disabilities of Japanese patients with DYT1-generalized dystonia.","ja":"Early-onset generalized dystonia attributable to a DYT1 gene mutation is a hyperkinetic movement disorder that responds poorly to pharmacotherapy. In this video brief, we show that continuous bilateral stimulation of the globus pallidus internus produced sustained and marked improvements in the motor symptoms and functional disabilities of Japanese patients with DYT1-generalized dystonia."},"publication_date":"2006-10","publication_name":{"en":"Movement Disorders","ja":"Movement Disorders"},"volume":"Vol.21","number":"No.10","starting_page":"1785","ending_page":"1787","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1002/mds.21021"],"issn":["0885-3185"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/16731023","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=271798","label":"url"}],"paper_title":{"en":"Alleviation of camptocormia by bilateral subthalamic nucleus stimulation in a patient with Parkinson's disease","ja":"Alleviation of camptocormia by bilateral subthalamic nucleus stimulation in a patient with Parkinson's disease"},"authors":{"en":[{"name":"Yamada K"},{"name":"Goto Satoshi"},{"name":"Matsuzaki Kazuhito"},{"name":"Tamura Tetsuya"},{"name":"Murase Nagako"},{"name":"Shimazu Hideki"},{"name":"Nagahiro Shinji"},{"name":"Kuratsu J"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Yamada K"},{"name":"後藤 惠"},{"name":"松﨑 和仁"},{"name":"田村 哲也"},{"name":"村瀬 永子"},{"name":"島津 秀紀"},{"name":"永廣 信治"},{"name":"Kuratsu J"},{"name":"梶 龍兒"}]},"description":{"en":"Camptocormia, known also as \"bent spine syndrome\", is characterized by involuntary truncal flexion of the thoraco-lumbar spine that appears in the sitting or standing position. Although Parkinson's disease (PD) is the most frequent etiologic factor, this postural disorder responds poorly to levodopa or other medications. We report a PD patient in whom chronic bilateral subthalamic nucleus stimulation produced a striking alleviation of camptocormia.","ja":"Camptocormia, known also as \"bent spine syndrome\", is characterized by involuntary truncal flexion of the thoraco-lumbar spine that appears in the sitting or standing position. Although Parkinson's disease (PD) is the most frequent etiologic factor, this postural disorder responds poorly to levodopa or other medications. We report a PD patient in whom chronic bilateral subthalamic nucleus stimulation produced a striking alleviation of camptocormia."},"publication_date":"2006-05-30","publication_name":{"en":"Parkinsonism & Related Disorders","ja":"Parkinsonism & Related Disorders"},"volume":"Vol.12","number":"No.6","starting_page":"372","ending_page":"375","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.parkreldis.2006.02.003"],"issn":["1353-8020"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/16686692","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=142266","label":"url"}],"paper_title":{"en":"Attenuation of MPTP-induced neurotoxicity and locomotor dysfunction in Nucling-deficient mice via suppression of the apoptosome pathway","ja":"Attenuation of MPTP-induced neurotoxicity and locomotor dysfunction in Nucling-deficient mice via suppression of the apoptosome pathway"},"authors":{"en":[{"name":"Teng Xichuan"},{"name":"Sakai Takashi"},{"name":"Liu Li"},{"name":"Sakai Rika"},{"name":"Kaji Ryuji"},{"name":"Fukui Kiyoshi"}],"ja":[{"name":"Teng Xichuan"},{"name":"坂井 隆志"},{"name":"劉 莉"},{"name":"坂井 利佳"},{"name":"梶 龍兒"},{"name":"福井 清"}]},"description":{"en":"1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-induced neurotoxicity is one of the experimental models most commonly used to study the pathogenesis of Parkinson's disease (PD). Although the biochemical mechanisms underlying the cell death induced by MPTP remain to be clarified, it has been found that the mitochondrial apoptotic signaling pathway plays an important role in the neurotoxicity of MPTP. Nucling is a novel type of apoptosis-associated molecule, essential for cytochrome c, apoptosis protease activating factor 1 (Apaf-1), pro-caspase-9 apoptosome induction and caspase-9 activation following pro-apoptotic stress. Here we found that Nucling-deficient mice treated with MPTP did not exhibit locomotor dysfunction in an open-field test. The substantia nigra dopaminergic neurons of Nucling-deficient mice were resistant to the damaging effects of the neurotoxin MPTP. Up-regulated expression of apoptosome was attenuated in Nucling-deficient mice treated with MPTP. These results indicate an important role for Nucling in MPTP-induced neuronal degeneration and suggest that the suppression of Nucling would be of therapeutic benefit for the treatment of neurodegeneration in PD.","ja":"1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-induced neurotoxicity is one of the experimental models most commonly used to study the pathogenesis of Parkinson's disease (PD). Although the biochemical mechanisms underlying the cell death induced by MPTP remain to be clarified, it has been found that the mitochondrial apoptotic signaling pathway plays an important role in the neurotoxicity of MPTP. Nucling is a novel type of apoptosis-associated molecule, essential for cytochrome c, apoptosis protease activating factor 1 (Apaf-1), pro-caspase-9 apoptosome induction and caspase-9 activation following pro-apoptotic stress. Here we found that Nucling-deficient mice treated with MPTP did not exhibit locomotor dysfunction in an open-field test. The substantia nigra dopaminergic neurons of Nucling-deficient mice were resistant to the damaging effects of the neurotoxin MPTP. Up-regulated expression of apoptosome was attenuated in Nucling-deficient mice treated with MPTP. These results indicate an important role for Nucling in MPTP-induced neuronal degeneration and suggest that the suppression of Nucling would be of therapeutic benefit for the treatment of neurodegeneration in PD."},"publication_date":"2006-05","publication_name":{"en":"Journal of Neurochemistry","ja":"Journal of Neurochemistry"},"volume":"Vol.97","number":"No.4","starting_page":"1126","ending_page":"1135","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1111/j.1471-4159.2006.03833.x"],"issn":["0022-3042"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/22151634","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=271797","label":"url"}],"paper_title":{"en":"Psychiatric symptoms and subthalamic nucleus stimulation in Parkinson's disease. A retrospective study in our Japanese patients","ja":"Psychiatric symptoms and subthalamic nucleus stimulation in Parkinson's disease. A retrospective study in our Japanese patients"},"authors":{"en":[{"name":"Yamada K"},{"name":"Goto Satoshi"},{"name":"Matsuzaki Kazuhito"},{"name":"Nagahiro Shinji"},{"name":"Murase Nagako"},{"name":"Shimazu Hideki"},{"name":"Kaji Ryuji"},{"name":"Kuratsu J"},{"name":"Ushio Y"}],"ja":[{"name":"Yamada K"},{"name":"後藤 惠"},{"name":"松﨑 和仁"},{"name":"永廣 信治"},{"name":"村瀬 永子"},{"name":"島津 秀紀"},{"name":"梶 龍兒"},{"name":"Kuratsu J"},{"name":"Ushio Y"}]},"description":{"en":"Objectives. With respect to postoperative activities of daily living (ADL), we retrospectively investigated associated psychiatric symptoms that influenced beneficial effects of subthalamic nucleus (STN) stimulation in our Japanese patients with Parkinson disease (PD). Materials and Methods. Twenty-five patients underwent bilateral STN stimulation. Pre- and 3 months after the surgery, their parkinsonian symptoms were evaluated with Unified Parkinson Disease Rating Scale (UPDRS) and Schwab-England (S-E) ADL scale. Stepwise multiple analysis was performed to determine the factors affecting postoperative ADL. Results. Eleven out of 25 patients manifested drug-induced psychosis preoperatively, although their mean dosage of levodopa was small (366.4 ± 152.7 mg). Disease duration positively affected the severity of the patients' psychiatric symptoms. Postoperative S-E score showed a significant improvement compared to the pretreatment baseline in both of \"on\" and \"off\" medication states, as all their cardinal motor symptoms were significantly ameliorated. Preoperative scores for thought disorder and axial disability negatively impact on the postoperative S-E score in \"on\" state (p < 0.01). Preoperative score for intellectual impairment was only a significant predictor of worse postoperative ADL in \"off\" state. Conclusions. The markedly lower dose of levodopa may suggest ethnic characteristics of our Japanese patients with respect to tolerance for antiparkinsonian medications. Preoperative manifestation of drug-induced psychosis and cognitive dysfunction were the major factor that strikingly suppressed daily activities after STN stimulation.","ja":"Objectives. With respect to postoperative activities of daily living (ADL), we retrospectively investigated associated psychiatric symptoms that influenced beneficial effects of subthalamic nucleus (STN) stimulation in our Japanese patients with Parkinson disease (PD). Materials and Methods. Twenty-five patients underwent bilateral STN stimulation. Pre- and 3 months after the surgery, their parkinsonian symptoms were evaluated with Unified Parkinson Disease Rating Scale (UPDRS) and Schwab-England (S-E) ADL scale. Stepwise multiple analysis was performed to determine the factors affecting postoperative ADL. Results. Eleven out of 25 patients manifested drug-induced psychosis preoperatively, although their mean dosage of levodopa was small (366.4 ± 152.7 mg). Disease duration positively affected the severity of the patients' psychiatric symptoms. Postoperative S-E score showed a significant improvement compared to the pretreatment baseline in both of \"on\" and \"off\" medication states, as all their cardinal motor symptoms were significantly ameliorated. Preoperative scores for thought disorder and axial disability negatively impact on the postoperative S-E score in \"on\" state (p < 0.01). Preoperative score for intellectual impairment was only a significant predictor of worse postoperative ADL in \"off\" state. Conclusions. The markedly lower dose of levodopa may suggest ethnic characteristics of our Japanese patients with respect to tolerance for antiparkinsonian medications. Preoperative manifestation of drug-induced psychosis and cognitive dysfunction were the major factor that strikingly suppressed daily activities after STN stimulation."},"publication_date":"2006-04","publication_name":{"en":"Neuromodulation","ja":"Neuromodulation"},"volume":"Vol.9","number":"No.2","starting_page":"107","ending_page":"114","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1111/j.1525-1403.2006.00054.x"],"issn":["1094-7159"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/16466934","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=361311","label":"url"}],"paper_title":{"en":"Effect of repetitive transcranial magnetic stimulation applied over the premotor cortex on somatosensory-evoked potentials and regional cerebral blood flow.","ja":"Effect of repetitive transcranial magnetic stimulation applied over the premotor cortex on somatosensory-evoked potentials and regional cerebral blood flow."},"authors":{"en":[{"name":"Urushihara Ryou"},{"name":"Murase Nagako"},{"name":"Rothwell John C"},{"name":"Harada Masafumi"},{"name":"Hosono Yuki"},{"name":"Asanuma Kotaro"},{"name":"Shimazu Hideki"},{"name":"Nakamura Kazumi"},{"name":"Chikahisa Sachiko"},{"name":"Kitaoka Kazuyoshi"},{"name":"Sei Hiroyoshi"},{"name":"Morita Yusuke"},{"name":"Kaji Ryuji"}],"ja":[{"name":"漆原 良"},{"name":"村瀬 永子"},{"name":"Rothwell John C"},{"name":"原田 雅史"},{"name":"Hosono Yuki"},{"name":"Asanuma Kotaro"},{"name":"島津 秀紀"},{"name":"Nakamura Kazumi"},{"name":"近久 幸子"},{"name":"北岡 和義"},{"name":"勢井 宏義"},{"name":"森田 雄介"},{"name":"梶 龍兒"}]},"description":{"en":"Somatosensory-evoked potentials (SEPs) are attenuated by movement. This phenomenon of 'gating' reflects sensorimotor integration for motor control. The frontal N30 component after median nerve stimulation was shown to be reduced in amplitude prior to hand movement. To investigate the mechanism of this sensory gating, we recorded median SEPs immediately before and after application of monophasic very low-frequency (0.2 Hz) repetitive transcranial magnetic stimulation (rTMS) of 250 stimuli over motor cortex (MC), premotor cortex (PMC), or supplementary motor area (SMA) in 9 healthy volunteers. The stimulus intensity for MC or PMC was set 85% of the resting motor threshold for the hand muscle, and that for SMA was at the active motor threshold for the leg muscle. SEPs showed significant increases in amplitudes of the frontal N30 component after PMC stimulation, but not after SMA or MC stimulation. Low-frequency (1 Hz) biphasic stimulation over PMC showed no significant N30 changes in 6 out of 9 subjects tested, indicating the effect being specific for 0.2 Hz monophasic stimulation. To examine the functional anatomy of the N30 change, single photon emission computed tomography was performed immediately before and after monophasic 0.2 Hz rTMS over PMC in all the 9 subjects. Regional cerebral blood flow showed significant increases mainly in PMC and prefrontal cortex, indicating the involvement of these cortical areas in sensory input gating for motor control.","ja":"Somatosensory-evoked potentials (SEPs) are attenuated by movement. This phenomenon of 'gating' reflects sensorimotor integration for motor control. The frontal N30 component after median nerve stimulation was shown to be reduced in amplitude prior to hand movement. To investigate the mechanism of this sensory gating, we recorded median SEPs immediately before and after application of monophasic very low-frequency (0.2 Hz) repetitive transcranial magnetic stimulation (rTMS) of 250 stimuli over motor cortex (MC), premotor cortex (PMC), or supplementary motor area (SMA) in 9 healthy volunteers. The stimulus intensity for MC or PMC was set 85% of the resting motor threshold for the hand muscle, and that for SMA was at the active motor threshold for the leg muscle. SEPs showed significant increases in amplitudes of the frontal N30 component after PMC stimulation, but not after SMA or MC stimulation. Low-frequency (1 Hz) biphasic stimulation over PMC showed no significant N30 changes in 6 out of 9 subjects tested, indicating the effect being specific for 0.2 Hz monophasic stimulation. To examine the functional anatomy of the N30 change, single photon emission computed tomography was performed immediately before and after monophasic 0.2 Hz rTMS over PMC in all the 9 subjects. Regional cerebral blood flow showed significant increases mainly in PMC and prefrontal cortex, indicating the involvement of these cortical areas in sensory input gating for motor control."},"publication_date":"2006-02-08","publication_name":{"en":"Neuroimage","ja":"Neuroimage"},"volume":"Vol.31","number":"No.2","starting_page":"699","ending_page":"709","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.neuroimage.2005.12.027"],"issn":["1053-8119"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/110734","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/15460899","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-7044220587&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=126805","label":"url"}],"paper_title":{"en":"Stress control and human nutrition","ja":"Stress control and human nutrition"},"authors":{"en":[{"name":"Takeda Eiji"},{"name":"Terao Junji"},{"name":"Nakaya Yutaka"},{"name":"Miyamoto Ken-ichi"},{"name":"Baba Yoshinobu"},{"name":"Chuman Hiroshi"},{"name":"Kaji Ryuji"},{"name":"Ohmori Tetsuro"},{"name":"Rokutan Kazuhito"}],"ja":[{"name":"武田 英二"},{"name":"寺尾 純二"},{"name":"中屋 豊"},{"name":"宮本 賢一"},{"name":"馬場 嘉信"},{"name":"中馬 寛"},{"name":"梶 龍兒"},{"name":"大森 哲郎"},{"name":"六反 一仁"}]},"description":{"en":"Stress is a pervasive factor in everyday life that critically affects development and functioning. Severe and prolonged stress exposure impairs homeostatic mechanisms, particularly associated with the onset of depressive illness. Brain food is aimed at preventing as well as treating a growing number of stress-related mental disorders. Some topics on the association of stress and nutrition is reviewed. (1) An increased activity of serotonergic neurons in the brain is an established consequence of stress. An increase in brain tryptophan levels on the order of that produced by eating a carbohydrate-rich/protein-poor meal causes parallel increases in the amounts of serotonin released into synapses. (2) Eating is thought to be suppressed during stress, due to anorectic effects of corticotrophin releasing hormone, and increased during recovery from stress, due to appetite stimulating effects of residual cortisol. (3) A strong inverse association between coffee intake and risk of suicide. (4) Night eating syndrome has been found to occur during periods of stress and is associated with poor results at attempts to lose weight and disturbances in the hypothalamic-pituitary-adrenal axis. (5) Dietary antioxidants present in fruits and vegetables may improve cognitive function. Therefore, it is concluded that the establishment of functional foods that correctly regulate stress response must be firmly based upon scientific knowledge and legal regulation.","ja":"Stress is a pervasive factor in everyday life that critically affects development and functioning. Severe and prolonged stress exposure impairs homeostatic mechanisms, particularly associated with the onset of depressive illness. Brain food is aimed at preventing as well as treating a growing number of stress-related mental disorders. Some topics on the association of stress and nutrition is reviewed. (1) An increased activity of serotonergic neurons in the brain is an established consequence of stress. An increase in brain tryptophan levels on the order of that produced by eating a carbohydrate-rich/protein-poor meal causes parallel increases in the amounts of serotonin released into synapses. (2) Eating is thought to be suppressed during stress, due to anorectic effects of corticotrophin releasing hormone, and increased during recovery from stress, due to appetite stimulating effects of residual cortisol. (3) A strong inverse association between coffee intake and risk of suicide. (4) Night eating syndrome has been found to occur during periods of stress and is associated with poor results at attempts to lose weight and disturbances in the hypothalamic-pituitary-adrenal axis. (5) Dietary antioxidants present in fruits and vegetables may improve cognitive function. Therefore, it is concluded that the establishment of functional foods that correctly regulate stress response must be firmly based upon scientific knowledge and legal regulation."},"publication_date":"2004-08","publication_name":{"en":"The Journal of Medical Investigation : JMI","ja":"The Journal of Medical Investigation : JMI"},"volume":"Vol.51","number":"No.3-4","starting_page":"139","ending_page":"145","languages":["eng"],"referee":true,"identifiers":{"doi":["10.2152/jmi.51.139"],"issn":["1343-1420"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/15271982","label":"url"},{"@id":"https://cir.nii.ac.jp/crid/1364233268616555648/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=86296","label":"url"}],"paper_title":{"en":"Nucling Recruits Apaf-1/Pro-caspase-9 Complex for the Induction of Stress-Induced Apoptosis","ja":"Nucling Recruits Apaf-1/Pro-caspase-9 Complex for the Induction of Stress-Induced Apoptosis"},"authors":{"en":[{"name":"Sakai Takashi"},{"name":"Liu Li"},{"name":"Teng Xichuan"},{"name":"Mukai-Sakai Rika"},{"name":"Shimada Hidenori"},{"name":"Kaji Ryuji"},{"name":"Mitani Tasuku"},{"name":"Matsumoto Mitsuru"},{"name":"Toida Kazunori"},{"name":"Ishimura Kazunori"},{"name":"Shishido Yuji"},{"name":"Mak W. Tak"},{"name":"Fukui Kiyoshi"}],"ja":[{"name":"坂井 隆志"},{"name":"劉 莉"},{"name":"滕 錫川"},{"name":"坂井 利佳"},{"name":"島田 英徳"},{"name":"梶 龍兒"},{"name":"三谷 匡"},{"name":"松本 満"},{"name":"樋田 一徳"},{"name":"石村 和敬"},{"name":"宍戸 裕二"},{"name":"Mak W. Tak"},{"name":"福井 清"}]},"description":{"en":"Nucling is a novel protein isolated from murine embryonal carcinoma cells with an up-regulated expression during cardiac muscle differentiation. We show here that Nucling was up-regulated by proapoptotic stimuli and important for the induction of apoptosis after cytotoxic stress. We further demonstrated that overexpressed Nucling was able to induce apoptosis. In Nucling-deficient cells, the expression levels of Apaf-1 and cytochrome c, which are the major components of an apoptosis-promoting complex named apoptosome, were both down-regulated under cellular stress. A deficiency of Nucling also conferred resistance to apoptotic stress on the cell. After UV irradiation, Nucling was shown to reside in an Apaf-1/pro-caspase-9 complex, suggesting that Nucling might be a key molecule for the formation and maintenance of this complex. Nucling induced translocation of Apaf-1 to the nucleus, thereby distributing the Nucling/Apaf-1/pro-caspase-9 complex to the nuclear fraction. These findings suggest that Nucling recruits and transports the apoptosome complex during stress-induced apoptosis.","ja":"Nucling is a novel protein isolated from murine embryonal carcinoma cells with an up-regulated expression during cardiac muscle differentiation. We show here that Nucling was up-regulated by proapoptotic stimuli and important for the induction of apoptosis after cytotoxic stress. We further demonstrated that overexpressed Nucling was able to induce apoptosis. In Nucling-deficient cells, the expression levels of Apaf-1 and cytochrome c, which are the major components of an apoptosis-promoting complex named apoptosome, were both down-regulated under cellular stress. A deficiency of Nucling also conferred resistance to apoptotic stress on the cell. After UV irradiation, Nucling was shown to reside in an Apaf-1/pro-caspase-9 complex, suggesting that Nucling might be a key molecule for the formation and maintenance of this complex. Nucling induced translocation of Apaf-1 to the nucleus, thereby distributing the Nucling/Apaf-1/pro-caspase-9 complex to the nuclear fraction. These findings suggest that Nucling recruits and transports the apoptosome complex during stress-induced apoptosis."},"publication_date":"2004-07-22","publication_name":{"en":"The Journal of Biological Chemistry","ja":"The Journal of Biological Chemistry"},"volume":"Vol.279","number":"No.39","starting_page":"41131","ending_page":"41140","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1074/jbc.M402902200"],"issn":["0021-9258"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/12651071","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=130166","label":"url"}],"paper_title":{"en":"Influence of cytokine and mannose binding protein gene polymorphisms on human t-cell leukemia virus type i (hTLV-i) provirus load in HTLV-I asymptomatic carriers","ja":"Influence of cytokine and mannose binding protein gene polymorphisms on human t-cell leukemia virus type i (hTLV-i) provirus load in HTLV-I asymptomatic carriers"},"authors":{"en":[{"name":"Nishimura Masataka"},{"name":"Maeda Michiyuki"},{"name":"Yasunaga Jun-ichiro"},{"name":"Kawakami Hideshi"},{"name":"Kaji Ryuji"},{"name":"Adachi Akio"},{"name":"Uchiyama Takashi"},{"name":"Matsuoka Masao"}],"ja":[{"name":"Nishimura Masataka"},{"name":"Maeda Michiyuki"},{"name":"Yasunaga Jun-ichiro"},{"name":"Kawakami Hideshi"},{"name":"梶 龍兒"},{"name":"足立 昭夫"},{"name":"Uchiyama Takashi"},{"name":"Matsuoka Masao"}]},"description":{"en":"Human T-cell leukemia virus type I (HTLV-I) provirus load differs more than 100-fold among carriers and a high provirus load in the peripheral blood mononuclear cells (PBMCs) is regarded as a risk factor for both preleukemic states and inflammatory diseases including HTLV-I-associated myelopathy (HAM). We examined polymorphisms in the genes for tumor necrosis factor (TNF), TNF receptor type 1 and 2, lymphotoxin (LT)-alpha, interleukin (IL)-1beta, IL-6, IL-10, monocyte chemoattractant protein (MCP)-1, and mannose binding protein (ManBP) in 143 HTLV-I carriers whether these polymorphisms affect the provirus load in the PBMCs of carriers. No significant association was observed between these polymorphisms and the provirus load. Homozygotes for a ManBP-variant allele, however, showed a tendency for the decreased number of provirus load. When combined, the data on the alleles of LT-alpha and MCP-1, HTLV-I carriers having high producer alleles of both genes showed a trend for increased provirus load. These data suggest that inflammation or an active immune response may induce an increased amount of HTLV-I-infected T cells, leading to a high provirus load.","ja":"Human T-cell leukemia virus type I (HTLV-I) provirus load differs more than 100-fold among carriers and a high provirus load in the peripheral blood mononuclear cells (PBMCs) is regarded as a risk factor for both preleukemic states and inflammatory diseases including HTLV-I-associated myelopathy (HAM). We examined polymorphisms in the genes for tumor necrosis factor (TNF), TNF receptor type 1 and 2, lymphotoxin (LT)-alpha, interleukin (IL)-1beta, IL-6, IL-10, monocyte chemoattractant protein (MCP)-1, and mannose binding protein (ManBP) in 143 HTLV-I carriers whether these polymorphisms affect the provirus load in the PBMCs of carriers. No significant association was observed between these polymorphisms and the provirus load. Homozygotes for a ManBP-variant allele, however, showed a tendency for the decreased number of provirus load. When combined, the data on the alleles of LT-alpha and MCP-1, HTLV-I carriers having high producer alleles of both genes showed a trend for increased provirus load. These data suggest that inflammation or an active immune response may induce an increased amount of HTLV-I-infected T cells, leading to a high provirus load."},"publication_date":"2003-04","publication_name":{"en":"Human Immunology","ja":"Human Immunology"},"volume":"Vol.64","number":"No.4","starting_page":"453","ending_page":"457","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/S0198-8859(02)00829-7"],"issn":["0198-8859"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/12634487","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=134406","label":"url"}],"paper_title":{"en":"Premovement gating of somatosensory evoked potentials after tibial nerve stimulation","ja":"Premovement gating of somatosensory evoked potentials after tibial nerve stimulation"},"authors":{"en":[{"name":"Asanuma Kotaro"},{"name":"Urushihara Ryo"},{"name":"Nakamura Kazumi"},{"name":"Kitaoka Kazuyoshi"},{"name":"Sei Hiroyoshi"},{"name":"Morita Yusuke"},{"name":"Shibasaki Hiroshi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Asanuma Kotaro"},{"name":"Urushihara Ryo"},{"name":"Nakamura Kazumi"},{"name":"Kitaoka Kazuyoshi"},{"name":"勢井 宏義"},{"name":"森田 雄介"},{"name":"Shibasaki Hiroshi"},{"name":"梶 龍兒"}]},"description":{"en":"Somatosensory evoked potentials (SEPs) are attenuated or gated during movement. The mechanism for this includes both centrifugal gating of afferent input and competition with other afferents caused by the movement (peripheral gating). Using a paradigm in which the signal for triggering movement is the electric stimulus for SEPs, we studied the gating of SEPs after tibial nerve stimulation prior to foot movement, and compared it with that during counting task. Significant gating was found for P40 component, which distributed centrally and ipsilaterally to the side of the stimulation, whereas the contralateral N40 component showed no changes. Dissociated gating of P40 and N40 indicates multiple generators of these components, in contrast to the previous view of a single generator dipole projecting tangentially. Together with the previous findings in median SEPs, these gating phenomena should represent a general mechanism for sensori-motor integration in preparation for limb movement.","ja":"Somatosensory evoked potentials (SEPs) are attenuated or gated during movement. The mechanism for this includes both centrifugal gating of afferent input and competition with other afferents caused by the movement (peripheral gating). Using a paradigm in which the signal for triggering movement is the electric stimulus for SEPs, we studied the gating of SEPs after tibial nerve stimulation prior to foot movement, and compared it with that during counting task. Significant gating was found for P40 component, which distributed centrally and ipsilaterally to the side of the stimulation, whereas the contralateral N40 component showed no changes. Dissociated gating of P40 and N40 indicates multiple generators of these components, in contrast to the previous view of a single generator dipole projecting tangentially. Together with the previous findings in median SEPs, these gating phenomena should represent a general mechanism for sensori-motor integration in preparation for limb movement."},"publication_date":"2003-03-03","publication_name":{"en":"NeuroReport","ja":"NeuroReport"},"volume":"Vol.14","number":"No.3","starting_page":"375","ending_page":"379","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1097/00001756-200303030-00016"],"issn":["0959-4965"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/12121679","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=130150","label":"url"}],"paper_title":{"en":"Association between interleukin-6 gene polymorphism and human T-Cell leukemia virus type I associated myelopathy","ja":"Association between interleukin-6 gene polymorphism and human T-Cell leukemia virus type I associated myelopathy"},"authors":{"en":[{"name":"Nishimura Masataka"},{"name":"Matsuoka Masao"},{"name":"Maeda Michiyuki"},{"name":"Mizut Ikuko"},{"name":"Mita Shuji"},{"name":"Uchino Makoto"},{"name":"Matsui Makoto"},{"name":"Kuroda Yasuo"},{"name":"Kawakami Hideshi"},{"name":"Kaji Ryuji"},{"name":"Adachi Akio"},{"name":"Uchiyama Takashi"}],"ja":[{"name":"Nishimura Masataka"},{"name":"Matsuoka Masao"},{"name":"Maeda Michiyuki"},{"name":"Mizut Ikuko"},{"name":"Mita Shuji"},{"name":"Uchino Makoto"},{"name":"Matsui Makoto"},{"name":"Kuroda Yasuo"},{"name":"Kawakami Hideshi"},{"name":"梶 龍兒"},{"name":"足立 昭夫"},{"name":"Uchiyama Takashi"}]},"description":{"en":"We studied cytokine gene polymorphisms in the promoter region, including interleukin (IL)-6, IL-1beta, and IL-10, in Japanese patients with human T-cell leukemia virus type I (HTLV-I) associated myelopathy (HAM) (n = 65), asymptomatic HTLV-I carriers (n = 143), and HTLV-I seronegative, normal controls (n = 160). There was a significant difference between HAM patients and HTLV-I carriers in the distribution of IL-6 promoter polymorphism at position -634 (chi(2) = 9.90, p = 0.0071). The IL-6 genotype was also significantly different between HAM patients and normal controls (chi(2) = 11.53, p = 0.0033), while a similar distribution was observed in IL-1beta and IL-10 polymorphisms among HAM patients, carriers, and normal controls. The results suggest that IL-6 gene region may contribute to susceptibility to HAM, and that aberrant cytokine productions could be involved in the development of HAM.","ja":"We studied cytokine gene polymorphisms in the promoter region, including interleukin (IL)-6, IL-1beta, and IL-10, in Japanese patients with human T-cell leukemia virus type I (HTLV-I) associated myelopathy (HAM) (n = 65), asymptomatic HTLV-I carriers (n = 143), and HTLV-I seronegative, normal controls (n = 160). There was a significant difference between HAM patients and HTLV-I carriers in the distribution of IL-6 promoter polymorphism at position -634 (chi(2) = 9.90, p = 0.0071). The IL-6 genotype was also significantly different between HAM patients and normal controls (chi(2) = 11.53, p = 0.0033), while a similar distribution was observed in IL-1beta and IL-10 polymorphisms among HAM patients, carriers, and normal controls. The results suggest that IL-6 gene region may contribute to susceptibility to HAM, and that aberrant cytokine productions could be involved in the development of HAM."},"publication_date":"2002-08","publication_name":{"en":"Human Immunology","ja":"Human Immunology"},"volume":"Vol.63","number":"No.8","starting_page":"696","ending_page":"700","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/S0198-8859(02)00419-6"],"issn":["0198-8859"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://cir.nii.ac.jp/crid/1523951030731320960/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=366292","label":"url"}],"paper_title":{"en":"【ALS 2019】メコバラミン","ja":"【ALS 2019】メコバラミン"},"authors":{"en":[{"name":"Izumi Yuishin"},{"name":"Oki Ryosuke"},{"name":"桑原 聡"},{"name":"Kaji Ryuji"}],"ja":[{"name":"和泉 唯信"},{"name":"沖 良祐"},{"name":"桑原 聡"},{"name":"梶 龍兒"}]},"publication_date":"2019","publication_name":{"en":"Advances in Neurological Sciences","ja":"神経研究の進歩"},"volume":"Vol.71","number":"No.11","starting_page":"1261","ending_page":"1269","languages":["jpn"],"invited":true,"identifiers":{"issn":["1881-6096"]},"published_paper_type":"research_institution"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/111054","label":"url"},{"@id":"https://cir.nii.ac.jp/crid/1050564287419680128/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=344003","label":"url"}],"paper_title":{"en":"症例報告 第17回若手奨励賞受賞論文 遅発性ジストニア(tardive dystonia)に対して脳深部刺激術を施行した5例","ja":"症例報告 第17回若手奨励賞受賞論文 遅発性ジストニア(tardive dystonia)に対して脳深部刺激術を施行した5例"},"authors":{"en":[{"name":"小山 広士"},{"name":"Ohkita Shinya"},{"name":"Mure Hideo"},{"name":"Morigaki Ryoma"},{"name":"Kaji Ryuji"},{"name":"Goto Satoshi"},{"name":"Nagahiro Shinji"}],"ja":[{"name":"小山 広士"},{"name":"大北 真哉"},{"name":"牟礼 英生"},{"name":"森垣 龍馬"},{"name":"梶 龍兒"},{"name":"後藤 惠"},{"name":"永廣 信治"}]},"description":{"en":"We assessed the efficiency of pallidal deep brain stimulation for tardive dystonia. This search was carried out in Electronic chart of Tokushima University Hospital. 5 patients with tardive dystonia were enrolled. GPi(internal segment of globus pallidus)was the target in all patients. The motor part of Burke-Fahn-Marsden Dystonia Rating Scale(BFMDRS)was improved by 78.4% on average when compared to preoperative BFMDRS scores. The performed analysis indicates that GPi-DBS is an effective and safe treatment for tardive dystonia.","ja":"We assessed the efficiency of pallidal deep brain stimulation for tardive dystonia. This search was carried out in Electronic chart of Tokushima University Hospital. 5 patients with tardive dystonia were enrolled. GPi(internal segment of globus pallidus)was the target in all patients. The motor part of Burke-Fahn-Marsden Dystonia Rating Scale(BFMDRS)was improved by 78.4% on average when compared to preoperative BFMDRS scores. The performed analysis indicates that GPi-DBS is an effective and safe treatment for tardive dystonia."},"publication_date":"2017-08-25","publication_name":{"en":"Shikoku Acta Medica","ja":"四国医学雑誌"},"volume":"Vol.73","number":"No.3 4","starting_page":"193","ending_page":"193","languages":["jpn"],"identifiers":{"issn":["0037-3699"]},"published_paper_type":"research_institution"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/111133","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/28954996","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=341956","label":"url"}],"paper_title":{"en":"Usefulness of a novel higher brain dysfunction screening test for evaluating higher brain function in healthy persons.","ja":"Usefulness of a novel higher brain dysfunction screening test for evaluating higher brain function in healthy persons."},"authors":{"en":[{"name":"Hioka Akemi"},{"name":"Mizobuchi Yoshifumi"},{"name":"Tada Yoshiteru"},{"name":"Nishi Kyoko"},{"name":"Shirayama Yasuhiko"},{"name":"Katoh Shinsuke"},{"name":"Akazawa N"},{"name":"Kaji Ryuji"},{"name":"Ojima Y"},{"name":"Nagahiro Shinji"}],"ja":[{"name":"日岡 明美"},{"name":"溝渕 佳史"},{"name":"多田 恵曜"},{"name":"西 京子"},{"name":"白山 靖彦"},{"name":"加藤 真介"},{"name":"Akazawa N"},{"name":"梶 龍兒"},{"name":"Ojima Y"},{"name":"永廣 信治"}]},"description":{"en":"To accurately and rapidly screen for higher brain dysfunction, we developed a screening test named the \"higher brain dysfunction screening test\" (HIBRID-ST). Previous studies have reported a decrease in higher brain function with age. However, whether HIBRID-ST can detect a decrease in higher brain function in healthy persons remains unclear. We aimed to assess the usefulness of HIBRID-ST for evaluating higher brain function in healthy persons. We recruited 60 persons without physiological abnormalities and divided them into six equal groups based on their age (20s-70s). HIBRID-ST addresses orientation, short-term memory, word recall, situational awareness, visual short-term memory, and graphic replication and includes the Trail Making and Kana-hiroi tests. There was a significant negative correlation between the participants' age and their total HIBRID-ST score (ϱ = -0.68, p < 0.01). The total HIBRID-ST score of participants in their 70s was significantly lower than that of participants in their 20s-60s; the total HIBRID-ST score of participants in their 60s was significantly lower than that of participants in their 20s-50s. Our findings show that HIBRID-ST accurately detects an age-related decline in higher brain function. Further studies are needed to examine the usefulness of HIBRID-ST in patients with higher brain dysfunction. J. Med. Invest. 64: 280-285, August, 2017.","ja":"To accurately and rapidly screen for higher brain dysfunction, we developed a screening test named the \"higher brain dysfunction screening test\" (HIBRID-ST). Previous studies have reported a decrease in higher brain function with age. However, whether HIBRID-ST can detect a decrease in higher brain function in healthy persons remains unclear. We aimed to assess the usefulness of HIBRID-ST for evaluating higher brain function in healthy persons. We recruited 60 persons without physiological abnormalities and divided them into six equal groups based on their age (20s-70s). HIBRID-ST addresses orientation, short-term memory, word recall, situational awareness, visual short-term memory, and graphic replication and includes the Trail Making and Kana-hiroi tests. There was a significant negative correlation between the participants' age and their total HIBRID-ST score (ϱ = -0.68, p < 0.01). The total HIBRID-ST score of participants in their 70s was significantly lower than that of participants in their 20s-60s; the total HIBRID-ST score of participants in their 60s was significantly lower than that of participants in their 20s-50s. Our findings show that HIBRID-ST accurately detects an age-related decline in higher brain function. Further studies are needed to examine the usefulness of HIBRID-ST in patients with higher brain dysfunction. J. Med. Invest. 64: 280-285, August, 2017."},"publication_date":"2017","publication_name":{"en":"The Journal of Medical Investigation : JMI","ja":"The Journal of Medical Investigation : JMI"},"volume":"Vol.64","number":"No.3.4","starting_page":"280","ending_page":"285","languages":["eng"],"identifiers":{"doi":["10.2152/jmi.64.280"],"issn":["1349-6867"]},"published_paper_type":"research_institution"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"http://www.med.or.jp/english/journal/pdf/2011_06/375_380.pdf","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84856928597&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=256563","label":"url"}],"paper_title":{"en":"Revised organ transplant act and neurosurgeons","ja":"Revised organ transplant act and neurosurgeons"},"authors":{"en":[{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"}],"ja":[{"name":"永廣 信治"},{"name":"梶 龍兒"}]},"publication_date":"2011-11","publication_name":{"en":"JMAJ: Japan Medical Association Journal","ja":"JMAJ: Japan Medical Association Journal"},"volume":"Vol.54","number":"No.6","starting_page":"375","ending_page":"380","languages":["eng"],"identifiers":{"issn":["1346-8650"]},"published_paper_type":"research_institution"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://cir.nii.ac.jp/crid/1573387449814655232/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=262459","label":"url"}],"paper_title":{"en":"Conservative treatment strategy in patients with dystonia","ja":"薬物療法を中心としたジストニア治療戦略"},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Kaji Ryuji"},{"name":"MIYAMOTO Ryosuke"},{"name":"Morigaki Ryoma"},{"name":"Mizobuchi Yoshifumi"},{"name":"Nagahiro Shinji"},{"name":"Goto Satoshi"}],"ja":[{"name":"佐光 亘"},{"name":"梶 龍兒"},{"name":"宮本 亮介"},{"name":"森垣 龍馬"},{"name":"溝渕 佳史"},{"name":"永廣 信治"},{"name":"後藤 惠"}]},"publication_date":"2011-06-15","publication_name":{"en":"Functional Neurosurgery","ja":"機能的脳神経外科"},"volume":"Vol.50","number":"No.1","starting_page":"36","ending_page":"37","languages":["jpn"],"identifiers":{"issn":["1344-9699"]},"published_paper_type":"research_institution"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://cir.nii.ac.jp/crid/1572824499861230208/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=262458","label":"url"}],"paper_title":{"en":"Bilateral pallidal stimulation in Meige syndrome","ja":"原発性 Meige 症候群に対する両側淡蒼球刺激術 : 罹患部位による反応の相違"},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Morigaki Ryoma"},{"name":"TSUZUKI Takashi"},{"name":"IMA Hiroyuki"},{"name":"USHIO Yukitaka"},{"name":"Mizobuchi Yoshifumi"},{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"},{"name":"Goto Satoshi"}],"ja":[{"name":"佐光 亘"},{"name":"森垣 龍馬"},{"name":"都築 貴"},{"name":"井間 博之"},{"name":"生塩 之敬"},{"name":"溝渕 佳史"},{"name":"永廣 信治"},{"name":"梶 龍兒"},{"name":"後藤 惠"}]},"publication_date":"2011-06-15","publication_name":{"en":"Functional Neurosurgery","ja":"機能的脳神経外科"},"volume":"Vol.50","number":"No.1","starting_page":"46","ending_page":"47","languages":["jpn"],"identifiers":{"issn":["1344-9699"]},"published_paper_type":"research_institution"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://cir.nii.ac.jp/crid/1571417124977670272/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=262457","label":"url"}],"paper_title":{"en":"Clinical characteristics of X-linked dystonia-parkinsonism","ja":"X-linked dystonia-parkinsonism 患者の臨床症状の検討"},"authors":{"en":[{"name":"Morigaki Ryoma"},{"name":"Sako Wataru"},{"name":"Mizobuchi Yoshifumi"},{"name":"Nagahiro Shinji"},{"name":"Goto Satoshi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"森垣 龍馬"},{"name":"佐光 亘"},{"name":"溝渕 佳史"},{"name":"永廣 信治"},{"name":"後藤 惠"},{"name":"梶 龍兒"}]},"publication_date":"2011-06-15","publication_name":{"en":"Functional Neurosurgery","ja":"機能的脳神経外科"},"volume":"Vol.50","number":"No.1","starting_page":"48","ending_page":"49","languages":["jpn"],"identifiers":{"issn":["1344-9699"]},"published_paper_type":"research_institution"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://cir.nii.ac.jp/crid/1572261549908102016/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=262456","label":"url"}],"paper_title":{"en":"Bilateral subthalamic stimulation for dropped head syndrome in Parkinson's disease","ja":"パーキンソン病における dropped head syndrome に対する両側視床下核刺激術の治療効果"},"authors":{"en":[{"name":"Sako Wataru"},{"name":"MIYAMOTO Ryosuke"},{"name":"Kaji Ryuji"},{"name":"Morigaki Ryoma"},{"name":"Mizobuchi Yoshifumi"},{"name":"Nagahiro Shinji"},{"name":"Goto Satoshi"}],"ja":[{"name":"佐光 亘"},{"name":"宮本 亮介"},{"name":"梶 龍兒"},{"name":"森垣 龍馬"},{"name":"溝渕 佳史"},{"name":"永廣 信治"},{"name":"後藤 惠"}]},"publication_date":"2011-06-15","publication_name":{"en":"Functional Neurosurgery","ja":"機能的脳神経外科"},"volume":"Vol.50","number":"No.1","starting_page":"108","ending_page":"109","languages":["jpn"],"identifiers":{"issn":["1344-9699"]},"published_paper_type":"research_institution"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"http://search.jamas.or.jp/link/ui/2011087554","label":"url"},{"@id":"https://cir.nii.ac.jp/crid/1573105974837985664/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=235849","label":"url"}],"paper_title":{"en":"Meige症候群に対する両側淡蒼球刺激術","ja":"Meige症候群に対する両側淡蒼球刺激術"},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Morigaki Ryoma"},{"name":"Mizobuchi Yoshifumi"},{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"},{"name":"Goto Satoshi"}],"ja":[{"name":"佐光 亘"},{"name":"森垣 龍馬"},{"name":"溝渕 佳史"},{"name":"永廣 信治"},{"name":"梶 龍兒"},{"name":"後藤 惠"}]},"publication_date":"2010-12-15","publication_name":{"en":"Functional Neurosurgery","ja":"機能的脳神経外科"},"volume":"Vol.49","number":"No.2","starting_page":"148","ending_page":"151","languages":["jpn"],"identifiers":{"issn":["1344-9699"]},"published_paper_type":"research_institution"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/20844439","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=235402","label":"url"}],"paper_title":{"en":"Peripheral nerve excitability measures at different target levels: the effects of aging and diabetic neuropathy.","ja":"Peripheral nerve excitability measures at different target levels: the effects of aging and diabetic neuropathy."},"authors":{"en":[{"name":"Shibuta Yoshiko"},{"name":"Nodera Hiroyuki"},{"name":"Mori Atsuko"},{"name":"Okita Takahiro"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Shibuta Yoshiko"},{"name":"野寺 裕之"},{"name":"Mori Atsuko"},{"name":"Okita Takahiro"},{"name":"梶 龍兒"}]},"description":{"en":"Threshold tracking testing has provided novel insights of peripheral nerve excitability in normal and pathologic conditions. However, little has been known on the nerve excitability properties of axons with different stimulation thresholds and the effects of aging and peripheral neuropathy to those. We performed multiple nerve excitability tests in normal controls divided into three age groups and in patients with diabetic neuropathy, which were recorded at three target levels (10%, 40%, and 60% of the maximum motor response amplitudes). In all the control groups, tracking at low target level shows smaller threshold change by hyperpolarizing stimuli and greater threshold change by depolarizing stimuli, suggestive of greater transient Na current. Normal elderly showed greater threshold change by hyperpolarizing pulse than younger subjects at high target level, likely reflecting decrease of axon diameters. Patients with diabetic neuropathy showed smaller threshold changes by both depolarizing and hyperpolarizing pulses (\"fanning-in\"), more noticeably at the lower target level, suggestive of the combined effects of membrane depolarization and greater decrease of axonal diameters in smaller fibers. Given the reported unpredictable electrical recruitment order in the diseased conditions and difference of nerve excitability measures in threshold electrotonus at different target levels, comparing threshold electrotonus values between normal and diseased axons may be problematic by comparing axons with different nerve excitability characteristics.","ja":"Threshold tracking testing has provided novel insights of peripheral nerve excitability in normal and pathologic conditions. However, little has been known on the nerve excitability properties of axons with different stimulation thresholds and the effects of aging and peripheral neuropathy to those. We performed multiple nerve excitability tests in normal controls divided into three age groups and in patients with diabetic neuropathy, which were recorded at three target levels (10%, 40%, and 60% of the maximum motor response amplitudes). In all the control groups, tracking at low target level shows smaller threshold change by hyperpolarizing stimuli and greater threshold change by depolarizing stimuli, suggestive of greater transient Na current. Normal elderly showed greater threshold change by hyperpolarizing pulse than younger subjects at high target level, likely reflecting decrease of axon diameters. Patients with diabetic neuropathy showed smaller threshold changes by both depolarizing and hyperpolarizing pulses (\"fanning-in\"), more noticeably at the lower target level, suggestive of the combined effects of membrane depolarization and greater decrease of axonal diameters in smaller fibers. Given the reported unpredictable electrical recruitment order in the diseased conditions and difference of nerve excitability measures in threshold electrotonus at different target levels, comparing threshold electrotonus values between normal and diseased axons may be problematic by comparing axons with different nerve excitability characteristics."},"publication_date":"2010-10","publication_name":{"en":"Journal of Clinical Neurophysiology","ja":"Journal of Clinical Neurophysiology"},"volume":"Vol.27","number":"No.5","starting_page":"350","ending_page":"357","languages":["eng"],"identifiers":{"doi":["10.1097/WNP.0b013e3181f387ab"],"issn":["1537-1603"]},"published_paper_type":"research_institution"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"http://search.jamas.or.jp/link/ui/2010295548","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=235873","label":"url"}],"paper_title":{"en":"ALSの超音波所見","ja":"ALSの超音波所見"},"authors":{"en":[{"name":"高松 直子"},{"name":"Terasawa Yuka"},{"name":"Sato Kenta"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"高松 直子"},{"name":"寺澤 由佳"},{"name":"佐藤 健太"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"publication_date":"2010-09","publication_name":{"en":"Neurosonology","ja":"神経超音波医学"},"volume":"Vol.23","starting_page":"58","ending_page":"58","languages":["jpn"],"identifiers":{"issn":["0917-074X"]},"published_paper_type":"research_institution"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"http://search.jamas.or.jp/link/ui/2010295549","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=235870","label":"url"}],"paper_title":{"en":"CIDPにおける頸部脊髄神経根内のHiS sign","ja":"CIDPにおける頸部脊髄神経根内のHiS sign"},"authors":{"en":[{"name":"Terasawa Yuka"},{"name":"高松 直子"},{"name":"Sato Kenta"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"寺澤 由佳"},{"name":"高松 直子"},{"name":"佐藤 健太"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"publication_date":"2010-09","publication_name":{"en":"Neurosonology","ja":"神経超音波医学"},"volume":"Vol.23","starting_page":"58","ending_page":"58","languages":["jpn"],"identifiers":{"issn":["0917-074X"]},"published_paper_type":"research_institution"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/20589876","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=235412","label":"url"}],"paper_title":{"en":"Long-term suppression of Meige syndrome after pallidal stimulation: a 10-year follow-up study.","ja":"Long-term suppression of Meige syndrome after pallidal stimulation: a 10-year follow-up study."},"authors":{"en":[{"name":"Inoue Nobuhiro"},{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"},{"name":"Goto Satoshi"}],"ja":[{"name":"Inoue Nobuhiro"},{"name":"永廣 信治"},{"name":"梶 龍兒"},{"name":"後藤 惠"}]},"publication_date":"2010-08-15","publication_name":{"en":"Movement Disorders","ja":"Movement Disorders"},"volume":"Vol.25","number":"No.11","starting_page":"1756","ending_page":"1758","languages":["eng"],"identifiers":{"doi":["10.1002/mds.23166"],"issn":["1531-8257"]},"published_paper_type":"research_institution"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"http://search.jamas.or.jp/link/ui/2011082716","label":"url"},{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/110323","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=235850","label":"url"}],"paper_title":{"en":"進行性に増悪をきたし血管内治療を施行した右内頸動脈閉塞の1例","ja":"進行性に増悪をきたし血管内治療を施行した右内頸動脈閉塞の1例"},"authors":{"en":[{"name":"坂東 美佳"},{"name":"山本 伸昭"},{"name":"Terasawa Yuka"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"},{"name":"Satomi Junichiro"},{"name":"Nagahiro Shinji"}],"ja":[{"name":"坂東 美佳"},{"name":"山本 伸昭"},{"name":"寺澤 由佳"},{"name":"和泉 唯信"},{"name":"梶 龍兒"},{"name":"里見 淳一郎"},{"name":"永廣 信治"}]},"publication_date":"2010-08","publication_name":{"en":"Shikoku Acta Medica","ja":"四国医学雑誌"},"volume":"Vol.66","number":"No.3-4","starting_page":"101","ending_page":"106","languages":["jpn"],"identifiers":{"issn":["0037-3699"]},"published_paper_type":"research_institution"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/20569068","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=235392","label":"url"}],"paper_title":{"en":"Botulinum toxin type A in post-stroke upper limb spasticity.","ja":"Botulinum toxin type A in post-stroke upper limb spasticity."},"authors":{"en":[{"name":"Kaji Ryuji"},{"name":"Osako Yuka"},{"name":"Suyama Kazuaki"},{"name":"Maeda Toshio"},{"name":"Uechi Yasuyuki"},{"name":"Iwasaki Masaru"}],"ja":[{"name":"梶 龍兒"},{"name":"Osako Yuka"},{"name":"Suyama Kazuaki"},{"name":"Maeda Toshio"},{"name":"Uechi Yasuyuki"},{"name":"Iwasaki Masaru"}]},"description":{"en":"To evaluate the efficacy and safety of one-time injections of botulinum toxin type A (BoNTA) in Japanese patients with post-stroke upper limb spasticity.","ja":"To evaluate the efficacy and safety of one-time injections of botulinum toxin type A (BoNTA) in Japanese patients with post-stroke upper limb spasticity."},"publication_date":"2010-08","publication_name":{"en":"Current Medical Research and Opinion","ja":"Current Medical Research and Opinion"},"volume":"Vol.26","number":"No.8","starting_page":"1983","ending_page":"1992","languages":["eng"],"identifiers":{"doi":["10.1185/03007995.2010.497103"],"issn":["1473-4877"]},"published_paper_type":"research_institution"},"priority":"input_data"} 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{"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://cir.nii.ac.jp/crid/1574231874745267840/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=262460","label":"url"}],"paper_title":{"en":"Vo-complex thalamotomy and pallidal stimulation in focal hand dystonia","ja":"Focal hand dystonia に対する視床 Vo-complex 破壊術と淡蒼球刺激術"},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Murase Nagako"},{"name":"Mizobuchi Yoshifumi"},{"name":"Morigaki Ryoma"},{"name":"Matsuzaki Kazuhito"},{"name":"Nagahiro Shinji"},{"name":"Kaji Ryuji"},{"name":"Goto Satoshi"}],"ja":[{"name":"佐光 亘"},{"name":"村瀬 永子"},{"name":"溝渕 佳史"},{"name":"森垣 龍馬"},{"name":"松﨑 和仁"},{"name":"永廣 信治"},{"name":"梶 龍兒"},{"name":"後藤 惠"}]},"publication_date":"2010-06-15","publication_name":{"en":"Functional Neurosurgery","ja":"機能的脳神経外科"},"volume":"Vol.49","number":"No.1","starting_page":"98","ending_page":"99","languages":["jpn"],"identifiers":{"issn":["1344-9699"]},"published_paper_type":"research_institution"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"http://search.jamas.or.jp/link/ui/2010286847","label":"url"},{"@id":"https://cir.nii.ac.jp/crid/1572261549908344832/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=235892","label":"url"}],"paper_title":{"en":"Involuntary movements due to cerebrovascular disease : Three case reports","ja":"その他の不随意運動 脳血管障害による不随意運動の3症例"},"authors":{"en":[{"name":"Morigaki Ryoma"},{"name":"Uno Masaaki"},{"name":"Matsubara Shunji"},{"name":"Satoh Koichi"},{"name":"Suzue Atsuhiko"},{"name":"Mizobuchi Yoshifumi"},{"name":"Sako Wataru"},{"name":"Kaji Ryuji"},{"name":"Nagahiro Shinji"},{"name":"Goto Satoshi"}],"ja":[{"name":"森垣 龍馬"},{"name":"宇野 昌明"},{"name":"松原 俊二"},{"name":"佐藤 浩一"},{"name":"鈴江 淳彦"},{"name":"溝渕 佳史"},{"name":"佐光 亘"},{"name":"梶 龍兒"},{"name":"永廣 信治"},{"name":"後藤 惠"}]},"publication_date":"2010-06-15","publication_name":{"en":"Functional Neurosurgery","ja":"機能的脳神経外科"},"volume":"Vol.49","number":"No.1","starting_page":"60","ending_page":"61","languages":["jpn"],"identifiers":{"issn":["1344-9699"]},"published_paper_type":"research_institution"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/20538517","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=235396","label":"url"}],"paper_title":{"en":"Utility of recovery cycle with two conditioning pulses for detection of impaired axonal slow potassium current in ALS.","ja":"Utility of recovery cycle with two conditioning pulses for detection of impaired axonal slow potassium current in ALS."},"authors":{"en":[{"name":"Shibuta Yoshiko"},{"name":"Nodera Hiroyuki"},{"name":"Nodera Atsuko"},{"name":"Okita Takahiro"},{"name":"Asanuma Kotaro"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Shibuta Yoshiko"},{"name":"野寺 裕之"},{"name":"Nodera Atsuko"},{"name":"Okita Takahiro"},{"name":"Asanuma Kotaro"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"Slow potassium current (I(Ks)) is important in controlling nerve excitability and its impairment is known in various neurological diseases, including amyotrophic lateral sclerosis (ALS). I(Ks) gives rise to the late subexcitability phase of the recovery cycle, which can be amplified by the use of multiple conditioning pulses. The clinical utility of this technique has not previously been explored.","ja":"Slow potassium current (I(Ks)) is important in controlling nerve excitability and its impairment is known in various neurological diseases, including amyotrophic lateral sclerosis (ALS). I(Ks) gives rise to the late subexcitability phase of the recovery cycle, which can be amplified by the use of multiple conditioning pulses. The clinical utility of this technique has not previously been explored."},"publication_date":"2010-06-09","publication_name":{"en":"Clinical Neurophysiology","ja":"Clinical Neurophysiology"},"volume":"Vol.121","number":"No.12","starting_page":"2117","ending_page":"2120","languages":["eng"],"identifiers":{"doi":["10.1016/j.clinph.2010.05.015"],"issn":["1872-8952"]},"published_paper_type":"research_institution"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/20493629","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=235403","label":"url"}],"paper_title":{"en":"Transverse myelitis and polymyositis associated with antiphospholipid antibody syndrome.","ja":"Transverse myelitis and polymyositis associated with antiphospholipid antibody syndrome."},"authors":{"en":[{"name":"Mori Atsuko"},{"name":"Nodera Hiroyuki"},{"name":"Nakane Syunya"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Mori Atsuko"},{"name":"野寺 裕之"},{"name":"Nakane Syunya"},{"name":"梶 龍兒"}]},"description":{"en":"Antiphospholipid antibody syndrome (APS) has been widely recognized to be associated with various neurological complications. In addition to the classical notion of APS as a thrombotic disorder, APS has been suggested to be an autoinflammatory disease as well. We present a previously healthy 46-year-old man who concurrently developed transverse myelitis and polymyositis whose laboratory studies were significant for the elevated antiphospholipid antibodies such as anti-cardiolipin (CL)/beta2-glycoprotein I (beta 2GPI) antibody. This report further enhances the recognized clinical phenotypes of the neurological complications of APS and the understanding of its pathomechanism.","ja":"Antiphospholipid antibody syndrome (APS) has been widely recognized to be associated with various neurological complications. In addition to the classical notion of APS as a thrombotic disorder, APS has been suggested to be an autoinflammatory disease as well. We present a previously healthy 46-year-old man who concurrently developed transverse myelitis and polymyositis whose laboratory studies were significant for the elevated antiphospholipid antibodies such as anti-cardiolipin (CL)/beta2-glycoprotein I (beta 2GPI) antibody. This report further enhances the recognized clinical phenotypes of the neurological complications of APS and the understanding of its pathomechanism."},"publication_date":"2010-05-20","publication_name":{"en":"Clinical Neurology and Neurosurgery","ja":"Clinical Neurology and Neurosurgery"},"volume":"Vol.112","number":"No.8","starting_page":"713","ending_page":"716","languages":["eng"],"identifiers":{"doi":["10.1016/j.clineuro.2010.04.017"],"issn":["1872-6968"]},"published_paper_type":"research_institution"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/20358216","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=235393","label":"url"}],"paper_title":{"en":"Botulinum toxin type A in post-stroke lower limb spasticity: a multicenter, double-blind, placebo-controlled trial.","ja":"Botulinum toxin type A in post-stroke lower limb spasticity: a multicenter, double-blind, placebo-controlled trial."},"authors":{"en":[{"name":"Kaji Ryuji"},{"name":"Osako Yuka"},{"name":"Suyama Kazuaki"},{"name":"Maeda Toshio"},{"name":"Uechi Yasuyuki"},{"name":"Iwasaki Masaru"}],"ja":[{"name":"梶 龍兒"},{"name":"Osako Yuka"},{"name":"Suyama Kazuaki"},{"name":"Maeda Toshio"},{"name":"Uechi Yasuyuki"},{"name":"Iwasaki Masaru"}]},"description":{"en":"Lower limb spasticity in post-stroke patients can impair ambulation and reduces activities of daily living (ADL) performance of patients. Botulinum toxin type A (BoNTA) has been shown effective for upper limb spasticity. This study assesses the treatment of lower limb spasticity in a large placebo-controlled clinical trial. In this multicenter, randomized, double-blind, parallel-group, placebo-controlled study, we evaluate the efficacy and safety of one-time injections of botulinum toxin type A (BoNTA) in Japanese patients with post-stroke lower limb spasticity. One hundred twenty patients with lower limb spasticity were randomized to a single treatment with BoNTA 300 U or placebo. The tone of the ankle flexor was assessed at baseline and through 12 weeks using the Modified Ashworth Scale (MAS). Gait pattern and speed of gait were also assessed. The primary endpoint was area under the curve (AUC) of the change from baseline in the MAS ankle score. Significant improvement in spasticity with BoNTA 300 U was demonstrated by a mean difference in the AUC of the change from baseline in the MAS ankle score between the BoNTA and placebo groups (-3.428; 95% CIs, -5.841 to -1.016; p = 0.006; t test). A significantly greater decrease from baseline in the MAS ankle score was noted at weeks 4, 6 and 8 in the BoNTA group compared to the placebo group (p < 0.001). Significant improvement in the Clinicians Global Impression was noted by the investigator at weeks 4, 6 and 8 (p = 0.016-0.048, Wilcoxon test), but not by the patient or physical/occupational therapist. Assessments of gait pattern using the Physician's Rating Scale and speed of gait revealed no significant treatment differences but showed a tendency towards improvement with BoNTA. No marked difference was noted in the frequency of treatment-related adverse events between BoNTA and placebo groups. This was the first large-scale trial to indicate that BoNTA significantly reduced spasticity in lower limb muscles.","ja":"Lower limb spasticity in post-stroke patients can impair ambulation and reduces activities of daily living (ADL) performance of patients. Botulinum toxin type A (BoNTA) has been shown effective for upper limb spasticity. This study assesses the treatment of lower limb spasticity in a large placebo-controlled clinical trial. In this multicenter, randomized, double-blind, parallel-group, placebo-controlled study, we evaluate the efficacy and safety of one-time injections of botulinum toxin type A (BoNTA) in Japanese patients with post-stroke lower limb spasticity. One hundred twenty patients with lower limb spasticity were randomized to a single treatment with BoNTA 300 U or placebo. The tone of the ankle flexor was assessed at baseline and through 12 weeks using the Modified Ashworth Scale (MAS). Gait pattern and speed of gait were also assessed. The primary endpoint was area under the curve (AUC) of the change from baseline in the MAS ankle score. Significant improvement in spasticity with BoNTA 300 U was demonstrated by a mean difference in the AUC of the change from baseline in the MAS ankle score between the BoNTA and placebo groups (-3.428; 95% CIs, -5.841 to -1.016; p = 0.006; t test). A significantly greater decrease from baseline in the MAS ankle score was noted at weeks 4, 6 and 8 in the BoNTA group compared to the placebo group (p < 0.001). Significant improvement in the Clinicians Global Impression was noted by the investigator at weeks 4, 6 and 8 (p = 0.016-0.048, Wilcoxon test), but not by the patient or physical/occupational therapist. Assessments of gait pattern using the Physician's Rating Scale and speed of gait revealed no significant treatment differences but showed a tendency towards improvement with BoNTA. No marked difference was noted in the frequency of treatment-related adverse events between BoNTA and placebo groups. This was the first large-scale trial to indicate that BoNTA significantly reduced spasticity in lower limb muscles."},"publication_date":"2010-04-01","publication_name":{"en":"Journal of Neurology","ja":"Journal of Neurology"},"volume":"Vol.257","number":"No.8","starting_page":"1330","ending_page":"1337","languages":["eng"],"identifiers":{"doi":["10.1007/s00415-010-5526-3"],"issn":["1432-1459"]},"published_paper_type":"research_institution"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"http://ci.nii.ac.jp/naid/130000142263/","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/20046006","label":"url"},{"@id":"https://cir.nii.ac.jp/crid/1390001204871227136/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=235418","label":"url"}],"paper_title":{"en":"Anti-neuronal antibodies in acute pandysautonomia.","ja":"Anti-neuronal antibodies in acute pandysautonomia."},"authors":{"en":[{"name":"Matsui Naoko"},{"name":"Mitsui Takao"},{"name":"Ohshima Yasushi"},{"name":"Yokoi Kenji"},{"name":"Kunishige Makoto"},{"name":"Yagi Fumikazu"},{"name":"Vernino Steven"},{"name":"Matsumoto Toshio"},{"name":"Kaji Ryuji"}],"ja":[{"name":"松井 尚子"},{"name":"三ツ井 貴夫"},{"name":"Ohshima Yasushi"},{"name":"Yokoi Kenji"},{"name":"Kunishige Makoto"},{"name":"Yagi Fumikazu"},{"name":"Vernino Steven"},{"name":"松本 俊夫"},{"name":"梶 龍兒"}]},"description":{"en":"We encountered two patients with acute pandysautonomia who subacutely exhibited extensive autonomic dysfunction after antecedent infections. Although these patients had been suffering from autonomic disturbance for several months, they both had a good clinical course after plasma exchange and intravenous immunoglobulin therapy. Thin-layer chromatography (TLC)-immunostaining did not demonstrate any antibodies against gangliosides, but immunoblot analysis showed antibodies against a neuroblastoma cell line, SH-SY5Y, in serum samples. Furthermore, ganglionic acetylcholine receptor autoantibodies were detected in one patient. These findings suggest that neuronal antibodies against the autonomic nervous system play an important role in the pathogenesis of acute pandysautonomia.","ja":"We encountered two patients with acute pandysautonomia who subacutely exhibited extensive autonomic dysfunction after antecedent infections. Although these patients had been suffering from autonomic disturbance for several months, they both had a good clinical course after plasma exchange and intravenous immunoglobulin therapy. Thin-layer chromatography (TLC)-immunostaining did not demonstrate any antibodies against gangliosides, but immunoblot analysis showed antibodies against a neuroblastoma cell line, SH-SY5Y, in serum samples. Furthermore, ganglionic acetylcholine receptor autoantibodies were detected in one patient. These findings suggest that neuronal antibodies against the autonomic nervous system play an important role in the pathogenesis of acute pandysautonomia."},"publication_date":"2010-01-01","publication_name":{"en":"Internal Medicine","ja":"Internal Medicine"},"volume":"Vol.49","number":"No.1","starting_page":"73","ending_page":"77","languages":["eng"],"identifiers":{"doi":["10.2169/internalmedicine.49.2788"],"issn":["1349-7235"]},"published_paper_type":"research_institution"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"http://search.jamas.or.jp/link/ui/2010219542","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=235893","label":"url"}],"paper_title":{"en":"「徳島治験ネットワーク」における治験の共同実施について 国際共同治験実施の現状","ja":"「徳島治験ネットワーク」における治験の共同実施について 国際共同治験実施の現状"},"authors":{"en":[{"name":"高井 繁美"},{"name":"Yanagawa Hiroaki"},{"name":"宮本 登志子"},{"name":"明石 晃代"},{"name":"井上 弘美"},{"name":"久米 亜紀子"},{"name":"田島 壮一郎"},{"name":"佐藤 千穂"},{"name":"西条 伴香"},{"name":"井本 淳一郎"},{"name":"鈴木 あかね"},{"name":"山上 真樹子"},{"name":"浦川 典子"},{"name":"下村 智子"},{"name":"Katashima Rumi"},{"name":"Irahara Minoru"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"},{"name":"西田 善彦"},{"name":"橋本 和典"},{"name":"近藤 彰"},{"name":"櫻木 章司"},{"name":"宇都宮 正登"},{"name":"川島 周"},{"name":"徳島 治験ネットワーク"}],"ja":[{"name":"高井 繁美"},{"name":"楊河 宏章"},{"name":"宮本 登志子"},{"name":"明石 晃代"},{"name":"井上 弘美"},{"name":"久米 亜紀子"},{"name":"田島 壮一郎"},{"name":"佐藤 千穂"},{"name":"西条 伴香"},{"name":"井本 淳一郎"},{"name":"鈴木 あかね"},{"name":"山上 真樹子"},{"name":"浦川 典子"},{"name":"下村 智子"},{"name":"片島 るみ"},{"name":"苛原 稔"},{"name":"和泉 唯信"},{"name":"梶 龍兒"},{"name":"西田 善彦"},{"name":"橋本 和典"},{"name":"近藤 彰"},{"name":"櫻木 章司"},{"name":"宇都宮 正登"},{"name":"川島 周"},{"name":"徳島 治験ネットワーク"}]},"publication_date":"2010","publication_name":{"en":"Shikoku Acta Medica","ja":"四国医学雑誌"},"volume":"Vol.66","number":"No.1-2","starting_page":"48","ending_page":"48","languages":["jpn"],"identifiers":{"issn":["0037-3699"]},"published_paper_type":"research_institution"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"http://search.jamas.or.jp/link/ui/2010289882","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=235874","label":"url"}],"paper_title":{"en":"小児難病を知る Charcot-Marie-Tooth病","ja":"小児難病を知る Charcot-Marie-Tooth病"},"authors":{"en":[{"name":"Shimatani Yoshimitsu"},{"name":"Kaji Ryuji"}],"ja":[{"name":"島谷 佳光"},{"name":"梶 龍兒"}]},"publication_date":"2010","publication_name":{"en":"Journal of Clinical Rehabilitation","ja":"Journal of Clinical Rehabilitation"},"volume":"Vol.19","number":"No.8","starting_page":"790","ending_page":"791","languages":["jpn"],"identifiers":{"issn":["0918-5259"]},"published_paper_type":"research_institution"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/19900504","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=235384","label":"url"}],"paper_title":{"en":"Threshold-dependent effects on peripheral nerve in vivo excitability properties in the rat.","ja":"Threshold-dependent effects on peripheral nerve in vivo excitability properties in the rat."},"authors":{"en":[{"name":"Mori Atsuko"},{"name":"Nodera Hiroyuki"},{"name":"Shibuta Yoshiko"},{"name":"Okita Takahiro"},{"name":"Bostock Hugh"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Mori Atsuko"},{"name":"野寺 裕之"},{"name":"Shibuta Yoshiko"},{"name":"Okita Takahiro"},{"name":"Bostock Hugh"},{"name":"梶 龍兒"}]},"description":{"en":"Various factors, including maturity, have been shown to influence peripheral nerve excitability measures, but little is known about differences in these properties between axons with different stimulation thresholds. Multiple nerve excitability tests were performed on the caudal motor axons of immature and mature female rats, recording from tail muscles at three target compound muscle action potential (CMAP) levels: 10%, 40% (\"standard\" level), and 60% of the maximum CMAP amplitude. Compared to lower target levels, axons at high target levels have the following characteristics: lower strength-duration time constant, less threshold reduction during depolarizing currents and greater threshold increase to hyperpolarizing currents, most notably to long hyperpolarizing currents in mature rats. Threshold-dependent effects on peripheral nerve excitability properties depend on the maturation stage, especially inward rectification (Ih), which becomes inversely related to threshold level. Performing nerve excitability tests at different target levels is useful in understanding the variation in membrane properties between different axons within a nerve. Because of the threshold effects on nerve excitability and the possibility of increased variability between axons and altered electric recruitment order in disease conditions, excitability parameters measured only at the \"standard\" target level should be interpreted with caution, especially the responses to hyperpolarizing currents.","ja":"Various factors, including maturity, have been shown to influence peripheral nerve excitability measures, but little is known about differences in these properties between axons with different stimulation thresholds. Multiple nerve excitability tests were performed on the caudal motor axons of immature and mature female rats, recording from tail muscles at three target compound muscle action potential (CMAP) levels: 10%, 40% (\"standard\" level), and 60% of the maximum CMAP amplitude. Compared to lower target levels, axons at high target levels have the following characteristics: lower strength-duration time constant, less threshold reduction during depolarizing currents and greater threshold increase to hyperpolarizing currents, most notably to long hyperpolarizing currents in mature rats. Threshold-dependent effects on peripheral nerve excitability properties depend on the maturation stage, especially inward rectification (Ih), which becomes inversely related to threshold level. Performing nerve excitability tests at different target levels is useful in understanding the variation in membrane properties between different axons within a nerve. Because of the threshold effects on nerve excitability and the possibility of increased variability between axons and altered electric recruitment order in disease conditions, excitability parameters measured only at the \"standard\" target level should be interpreted with caution, especially the responses to hyperpolarizing currents."},"publication_date":"2009-11-10","publication_name":{"en":"Neuroscience Letters","ja":"Neuroscience Letters"},"volume":"Vol.468","number":"No.3","starting_page":"248","ending_page":"253","languages":["eng"],"identifiers":{"doi":["10.1016/j.neulet.2009.11.006"],"issn":["1872-7972"]},"published_paper_type":"research_institution"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/19778548","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=235419","label":"url"}],"paper_title":{"en":"Quantitative determination of biological activity of botulinum toxins utilizing compound muscle action potentials (CMAP), and comparison of neuromuscular transmission blockage and muscle flaccidity among toxins.","ja":"Quantitative determination of biological activity of botulinum toxins utilizing compound muscle action potentials (CMAP), and comparison of neuromuscular transmission blockage and muscle flaccidity among toxins."},"authors":{"en":[{"name":"Torii Yasushi"},{"name":"Goto Yoshitaka"},{"name":"Takahashi Motohide"},{"name":"Ishida Setsuji"},{"name":"Harakawa Tetsuhiro"},{"name":"Sakamoto Takashi"},{"name":"Kaji Ryuji"},{"name":"Kozaki Shunji"},{"name":"Ginnaga Akihiro"}],"ja":[{"name":"Torii Yasushi"},{"name":"Goto Yoshitaka"},{"name":"Takahashi Motohide"},{"name":"Ishida Setsuji"},{"name":"Harakawa Tetsuhiro"},{"name":"坂本 崇"},{"name":"梶 龍兒"},{"name":"Kozaki Shunji"},{"name":"Ginnaga Akihiro"}]},"description":{"en":"The biological activity of various types of botulinum toxin has been evaluated using the mouse intraperitoneal LD(50) test (ip LD(50)). This method requires a large number of mice to precisely determine toxin activity, and so has posed a problem with regard to animal welfare. We have used a direct measure of neuromuscular transmission, the compound muscle action potential (CMAP), to evaluate the effect of different types of botulinum neurotoxin (NTX), and we compared the effects of these toxins to evaluate muscle relaxation by employing the digit abduction scoring (DAS) assay. This method can be used to measure a broad range of toxin activities the day after administration. Types A, C, C/D, and E NTX reduced the CMAP amplitude one day after administration at below 1 ip LD(50), an effect that cannot be detected using the mouse ip LD(50) assay. The method is useful not only for measuring toxin activity, but also for evaluating the characteristics of different types of NTX. The rat CMAP test is straightforward, highly reproducible, and can directly determine the efficacy of toxin preparations through their inhibition of neuromuscular transmission. Thus, this method may be suitable for pharmacology studies and the quality control of toxin preparations.","ja":"The biological activity of various types of botulinum toxin has been evaluated using the mouse intraperitoneal LD(50) test (ip LD(50)). This method requires a large number of mice to precisely determine toxin activity, and so has posed a problem with regard to animal welfare. We have used a direct measure of neuromuscular transmission, the compound muscle action potential (CMAP), to evaluate the effect of different types of botulinum neurotoxin (NTX), and we compared the effects of these toxins to evaluate muscle relaxation by employing the digit abduction scoring (DAS) assay. This method can be used to measure a broad range of toxin activities the day after administration. Types A, C, C/D, and E NTX reduced the CMAP amplitude one day after administration at below 1 ip LD(50), an effect that cannot be detected using the mouse ip LD(50) assay. The method is useful not only for measuring toxin activity, but also for evaluating the characteristics of different types of NTX. The rat CMAP test is straightforward, highly reproducible, and can directly determine the efficacy of toxin preparations through their inhibition of neuromuscular transmission. Thus, this method may be suitable for pharmacology studies and the quality control of toxin preparations."},"publication_date":"2009-09-22","publication_name":{"en":"Toxicon","ja":"Toxicon"},"volume":"Vol.55","number":"No.2-3","starting_page":"407","ending_page":"414","languages":["eng"],"identifiers":{"doi":["10.1016/j.toxicon.2009.09.005"],"issn":["1879-3150"]},"published_paper_type":"research_institution"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/26335017","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84955645742&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=306098","label":"url"}],"paper_title":{"en":"On-period unified Parkinson's disease rating scale before surgery correlates with differences in outcomes between pallidal and subthalamic stimulation: a meta-analysis.","ja":"On-period unified Parkinson's disease rating scale before surgery correlates with differences in outcomes between pallidal and subthalamic stimulation: a meta-analysis."},"authors":{"en":[{"name":"Sako Wataru"},{"name":"Murakami Nagahisa"},{"name":"Miyazaki Yoshimichi"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"佐光 亘"},{"name":"Murakami Nagahisa"},{"name":"宮﨑 由道"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"publication_date":"2015-09-03","publication_name":{"en":"Neurological Sciences","ja":"Neurological Sciences"},"volume":"Vol.37","number":"No.1","starting_page":"135","ending_page":"137","languages":["eng"],"identifiers":{"doi":["10.1007/s10072-015-2376-x"],"issn":["1590-3478"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/26173439","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84941136467&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=298817","label":"url"}],"paper_title":{"en":"Lack of C9orf72 expansion in 406 sporadic and familial cases of idiopathic dystonia in Japan.","ja":"Lack of C9orf72 expansion in 406 sporadic and familial cases of idiopathic dystonia in Japan."},"authors":{"en":[{"name":"Miyamoto Ryosuke"},{"name":"Kawarai Toshitaka"},{"name":"Oki Ryosuke"},{"name":"Matsumoto Shinichi"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Miyamoto Ryosuke"},{"name":"瓦井 俊孝"},{"name":"Oki Ryosuke"},{"name":"Matsumoto Shinichi"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"publication_date":"2015-07-14","publication_name":{"en":"Movement Disorders","ja":"Movement Disorders"},"volume":"Vol.30","number":"No.10","starting_page":"1430","ending_page":"1431","languages":["eng"],"identifiers":{"doi":["10.1002/mds.26310"],"issn":["1531-8257"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/24227593","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84894236517&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=273631","label":"url"}],"paper_title":{"en":"DYT6 in Japan-genetic screening and clinical characteristics of the patients.","ja":"DYT6 in Japan-genetic screening and clinical characteristics of the patients."},"authors":{"en":[{"name":"Miyamoto Ryosuke"},{"name":"Koizumi Hidetaka"},{"name":"Morino Hiroyuki"},{"name":"Kawarai Toshitaka"},{"name":"Maruyama Hirofumi"},{"name":"Mukai Yohei"},{"name":"Miyashiro Ai"},{"name":"Sako Wataru"},{"name":"Izumi Yuishin"},{"name":"Kawakami Hideshi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"宮本 亮介"},{"name":"小泉 英貴"},{"name":"森野 豊之"},{"name":"瓦井 俊孝"},{"name":"丸山 博文"},{"name":"向井 洋平"},{"name":"宮城 愛"},{"name":"佐光 亘"},{"name":"和泉 唯信"},{"name":"川上 秀史"},{"name":"梶 龍兒"}]},"publication_date":"2013-11-13","publication_name":{"en":"Movement Disorders","ja":"Movement Disorders"},"volume":"Vol.29","number":"No.2","starting_page":"278","ending_page":"280","languages":["eng"],"identifiers":{"doi":["10.1002/mds.25745"],"issn":["1531-8257"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/24034409","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=272067","label":"url"}],"paper_title":{"en":"A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis.","ja":"A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis."},"authors":{"en":[{"name":"Inui Toshio"},{"name":"Kawarai Toshitaka"},{"name":"Fujita Koji"},{"name":"Kawamura Kazuyuki"},{"name":"Mitsui Takao"},{"name":"Orlacchio Antonio"},{"name":"Kamada Masaki"},{"name":"Abe Takashi"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"Inui Toshio"},{"name":"瓦井 俊孝"},{"name":"藤田 浩司"},{"name":"Kawamura Kazuyuki"},{"name":"三ツ井 貴夫"},{"name":"Orlacchio Antonio"},{"name":"鎌田 正紀"},{"name":"阿部 考志"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"description":{"en":"HDLS (Hereditary Diffuse Leukodystrophy with Spheroids) is a hereditary leukodystrophy whose main clinical manifestations include parkinsonism, spasticity, and ataxia. Genetic defects in the colony-stimulating factor 1 receptor (CSF1R) gene have been reported in many HDLS cases. The present report describes a new missense mutation Arg777Gln involving exon 18 of the CSF1R gene in a sporadic patient presenting with tumor-like lesions mimicking primary progressive multiple sclerosis. The patient was initially diagnosed with a progressive variant of multiple sclerosis and received inadequate treatments. Although most HDLS cases have a positive family history, this disease should also be suspected in sporadic patients showing unusual white matter lesions at MRI.","ja":"HDLS (Hereditary Diffuse Leukodystrophy with Spheroids) is a hereditary leukodystrophy whose main clinical manifestations include parkinsonism, spasticity, and ataxia. Genetic defects in the colony-stimulating factor 1 receptor (CSF1R) gene have been reported in many HDLS cases. The present report describes a new missense mutation Arg777Gln involving exon 18 of the CSF1R gene in a sporadic patient presenting with tumor-like lesions mimicking primary progressive multiple sclerosis. The patient was initially diagnosed with a progressive variant of multiple sclerosis and received inadequate treatments. Although most HDLS cases have a positive family history, this disease should also be suspected in sporadic patients showing unusual white matter lesions at MRI."},"publication_date":"2013-08-29","publication_name":{"en":"Journal of the Neurological Sciences","ja":"Journal of the Neurological Sciences"},"languages":["eng"],"identifiers":{"doi":["10.1016/j.jns.2013.08.020"],"issn":["1878-5883"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/23706616","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84880785140&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=276224","label":"url"}],"paper_title":{"en":"Depression in X-linked dystonia-parkinsonism:A case-control study","ja":"Depression in X-linked dystonia-parkinsonism:A case-control study"},"authors":{"en":[{"name":"Morigaki Ryoma"},{"name":"Nakataki Masahito"},{"name":"Kawarai Toshitaka"},{"name":"Lee V. Lillian"},{"name":"Teleg A. Rosalia"},{"name":"Tabuena Daisy P. Ma"},{"name":"Mure Hideo"},{"name":"Sako Wataru"},{"name":"Pasco Matthew D. Paul"},{"name":"Nagahiro Shinji"},{"name":"Iga Junichi"},{"name":"Ohmori Tetsuro"},{"name":"Goto Satoshi"},{"name":"Kaji Ryuji"}],"ja":[{"name":"森垣 龍馬"},{"name":"中瀧 理仁"},{"name":"瓦井 俊孝"},{"name":"Lee V. Lillian"},{"name":"Teleg A. Rosalia"},{"name":"Tabuena Daisy P. Ma"},{"name":"牟礼 英生"},{"name":"佐光 亘"},{"name":"Pasco Matthew D. Paul"},{"name":"永廣 信治"},{"name":"伊賀 淳一"},{"name":"大森 哲郎"},{"name":"後藤 惠"},{"name":"梶 龍兒"}]},"publication_date":"2013-05-24","publication_name":{"en":"Parkinsonism & Related Disorders","ja":"Parkinsonism & Related Disorders"},"volume":"Vol.19","number":"No.9","starting_page":"844","ending_page":"846","languages":["eng"],"identifiers":{"doi":["10.1016/j.parkreldis.2013.04.027"],"issn":["1873-5126"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=269630","label":"url"}],"paper_title":{"en":"精神発育遅滞を伴う家族性小脳変性症の臨床遺伝学的研究の具体的事例","ja":"精神発育遅滞を伴う家族性小脳変性症の臨床遺伝学的研究の具体的事例"},"authors":{"en":[{"name":"Kawarai Toshitaka"},{"name":"佐治 直樹"},{"name":"寺澤 英夫"},{"name":"清水 洋孝"},{"name":"喜多 也寸志"},{"name":"Tajima Atsushi"},{"name":"Imoto Issei"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"瓦井 俊孝"},{"name":"佐治 直樹"},{"name":"寺澤 英夫"},{"name":"清水 洋孝"},{"name":"喜多 也寸志"},{"name":"田嶋 敦"},{"name":"井本 逸勢"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"publication_date":"2012-11","publication_name":{"en":"難病と在宅ケア","ja":"難病と在宅ケア"},"volume":"Vol.18","number":"No.8","starting_page":"45","ending_page":"47","languages":["jpn"],"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/21836032","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-80855123814&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=283908","label":"url"}],"paper_title":{"en":"Brainstem and spinal cord motor neuron involvement with optineurin inclusions in proximal-dominant hereditary motor and sensory neuropathy","ja":"Brainstem and spinal cord motor neuron involvement with optineurin inclusions in proximal-dominant hereditary motor and sensory neuropathy"},"authors":{"en":[{"name":"Fujita Koji"},{"name":"Yoshida Mari"},{"name":"Sako Wataru"},{"name":"Maeda Kouji"},{"name":"Hashizume Yoshio"},{"name":"Goto Satoshi"},{"name":"Sobue Gen"},{"name":"Izumi Yuishin"},{"name":"Kaji Ryuji"}],"ja":[{"name":"藤田 浩司"},{"name":"Yoshida Mari"},{"name":"佐光 亘"},{"name":"Maeda Kouji"},{"name":"Hashizume Yoshio"},{"name":"後藤 惠"},{"name":"Sobue Gen"},{"name":"和泉 唯信"},{"name":"梶 龍兒"}]},"publication_date":"2011-12","publication_name":{"en":"Journal of Neurology, Neurosurgery, and Psychiatry","ja":"Journal of Neurology, Neurosurgery, and Psychiatry"},"volume":"Vol.82","number":"No.12","starting_page":"1402","ending_page":"1403","languages":["eng"],"identifiers":{"doi":["10.1136/jnnp-2011-300783"],"issn":["1468-330X"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/21996809","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=284701","label":"url"}],"paper_title":{"en":"The Awaji criteria for diagnosis of ALS.","ja":"The Awaji criteria for diagnosis of ALS."},"authors":{"en":[{"name":"de Carvalho Mamede"},{"name":"Dengler Reinhard"},{"name":"Eisen Andrew"},{"name":"England John D"},{"name":"Kaji Ryuji"},{"name":"Kimura Jun"},{"name":"Mills Kerry"},{"name":"Mitsumoto Hiroshi"},{"name":"Nodera Hiroyuki"},{"name":"Shefner Jeremy"},{"name":"Swash Michael"}],"ja":[{"name":"de Carvalho Mamede"},{"name":"Dengler Reinhard"},{"name":"Eisen Andrew"},{"name":"England John D"},{"name":"梶 龍兒"},{"name":"Kimura Jun"},{"name":"Mills Kerry"},{"name":"Mitsumoto Hiroshi"},{"name":"野寺 裕之"},{"name":"Shefner Jeremy"},{"name":"Swash Michael"}]},"publication_date":"2011-09","publication_name":{"en":"Muscle & Nerve","ja":"Muscle & Nerve"},"volume":"Vol.44","number":"No.3","starting_page":"456","ending_page":"457","languages":["eng"],"identifiers":{"doi":["10.1002/mus.22175"],"issn":["1097-4598"]},"published_paper_type":"scientific_journal"},"priority":"input_data"} {"insert":{"user_id":"5000020116","type":"published_papers"},"similar_merge":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/20428114","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=235397","label":"url"}],"paper_title":{"en":"Mutations of optineurin in amyotrophic lateral sclerosis.","ja":"Mutations of optineurin in amyotrophic lateral sclerosis."},"authors":{"en":[{"name":"Maruyama Hirofumi"},{"name":"Morino Hiroyuki"},{"name":"Ito Hidefumi"},{"name":"Izumi Yuishin"},{"name":"Kato Hidemasa"},{"name":"Watanabe Yasuhito"},{"name":"Kinoshita Yoshimi"},{"name":"Kamada Masaki"},{"name":"Nodera Hiroyuki"},{"name":"Suzuki Hidenori"},{"name":"Komure Osamu"},{"name":"Matsuura Shinya"},{"name":"Kobatake Keitaro"},{"name":"Morimoto Nobutoshi"},{"name":"Abe Koji"},{"name":"Suzuki Naoki"},{"name":"Aoki Masashi"},{"name":"Kawata Akihiro"},{"name":"Hirai Takeshi"},{"name":"Kato Takeo"},{"name":"Ogasawara Kazumasa"},{"name":"Hirano Asao"},{"name":"Takumi Toru"},{"name":"Kusaka Hirofumi"},{"name":"Hagiwara Koichi"},{"name":"Kaji Ryuji"},{"name":"Kawakami Hideshi"}],"ja":[{"name":"Maruyama Hirofumi"},{"name":"Morino Hiroyuki"},{"name":"Ito Hidefumi"},{"name":"和泉 唯信"},{"name":"Kato Hidemasa"},{"name":"Watanabe Yasuhito"},{"name":"Kinoshita Yoshimi"},{"name":"鎌田 正紀"},{"name":"野寺 裕之"},{"name":"Suzuki Hidenori"},{"name":"Komure Osamu"},{"name":"Matsuura Shinya"},{"name":"Kobatake Keitaro"},{"name":"Morimoto Nobutoshi"},{"name":"阿部 晃治"},{"name":"Suzuki Naoki"},{"name":"Aoki Masashi"},{"name":"Kawata Akihiro"},{"name":"Hirai Takeshi"},{"name":"Kato Takeo"},{"name":"Ogasawara Kazumasa"},{"name":"Hirano Asao"},{"name":"Takumi Toru"},{"name":"Kusaka Hirofumi"},{"name":"Hagiwara Koichi"},{"name":"梶 龍兒"},{"name":"Kawakami Hideshi"}]},"description":{"en":"Amyotrophic lateral sclerosis (ALS) has its onset in middle age and is a progressive disorder characterized by degeneration of motor neurons of the primary motor cortex, brainstem and spinal cord. Most cases of ALS are sporadic, but about 10% are familial. Genes known to cause classic familial ALS (FALS) are superoxide dismutase 1 (SOD1), ANG encoding angiogenin, TARDP encoding transactive response (TAR) DNA-binding protein TDP-43 (ref. 4) and fused in sarcoma/translated in liposarcoma (FUS, also known as TLS). However, these genetic defects occur in only about 20-30% of cases of FALS, and most genes causing FALS are unknown. Here we show that there are mutations in the gene encoding optineurin (OPTN), earlier reported to be a causative gene of primary open-angle glaucoma (POAG), in patients with ALS. We found three types of mutation of OPTN: a homozygous deletion of exon 5, a homozygous Q398X nonsense mutation and a heterozygous E478G missense mutation within its ubiquitin-binding domain. Analysis of cell transfection showed that the nonsense and missense mutations of OPTN abolished the inhibition of activation of nuclear factor kappa B (NF-kappaB), and the E478G mutation revealed a cytoplasmic distribution different from that of the wild type or a POAG mutation. A case with the E478G mutation showed OPTN-immunoreactive cytoplasmic inclusions. Furthermore, TDP-43- or SOD1-positive inclusions of sporadic and SOD1 cases of ALS were also noticeably immunolabelled by anti-OPTN antibodies. Our findings strongly suggest that OPTN is involved in the pathogenesis of ALS. They also indicate that NF-kappaB inhibitors could be used to treat ALS and that transgenic mice bearing various mutations of OPTN will be relevant in developing new drugs for this disorder.","ja":"Amyotrophic lateral sclerosis (ALS) has its onset in middle age and is a progressive disorder characterized by degeneration of motor neurons of the primary motor cortex, brainstem and spinal cord. Most cases of ALS are sporadic, but about 10% are familial. Genes known to cause classic familial ALS (FALS) are superoxide dismutase 1 (SOD1), ANG encoding angiogenin, TARDP encoding transactive response (TAR) DNA-binding protein TDP-43 (ref. 4) and fused in sarcoma/translated in liposarcoma (FUS, also known as TLS). However, these genetic defects occur in only about 20-30% of cases of FALS, and most genes causing FALS are unknown. Here we show that there are mutations in the gene encoding optineurin (OPTN), earlier reported to be a causative gene of primary open-angle glaucoma (POAG), in patients with ALS. We found three types of mutation of OPTN: a homozygous deletion of exon 5, a homozygous Q398X nonsense mutation and a heterozygous E478G missense mutation within its ubiquitin-binding domain. Analysis of cell transfection showed that the nonsense and missense mutations of OPTN abolished the inhibition of activation of nuclear factor kappa B (NF-kappaB), and the E478G mutation revealed a cytoplasmic distribution different from that of the wild type or a POAG mutation. A case with the E478G mutation showed OPTN-immunoreactive cytoplasmic inclusions. Furthermore, TDP-43- or SOD1-positive inclusions of sporadic and SOD1 cases of ALS were also noticeably immunolabelled by anti-OPTN antibodies. Our findings strongly suggest that OPTN is involved in the pathogenesis of ALS. They also indicate that NF-kappaB inhibitors could be used to treat ALS and that transgenic mice bearing various mutations of OPTN will be relevant in developing new drugs for this disorder."},"publication_date":"2010-04-28","publication_name":{"en":"Nature","ja":"Nature"},"volume":"Vol.465","number":"No.7295","starting_page":"223","ending_page":"226","languages":["eng"],"identifiers":{"doi":["10.1038/nature08971"],"issn":["1476-4687"]},"published_paper_type":"scientific_journal"},"priority":"input_data"}