Tokushima University / Educator and Researcher Directory --- Kaji, Ryuji

Personal Web Page

https://researchmap.jp/read0088168 (researchmap)

Field of Study

○	Medicine

Subject of Study

○

Book / Paper

Book:

1.	Takeuchi Toshiaki, Miyamoto Ryosuke, Osaki Yusuke, Takashi Abe, Nobuaki Yamamoto, Koji Fujita and Ryuji Kaji : 中脳黒質におけるT1強調画像高信号, 株式会社メディカ出版, 大阪市淀川区宮原3-4-30, Jun. 2015.
2.	Nobuaki Yamamoto, Ai Miyashiro, Koji Fujita, Takashi Abe, Junichiro Satomi and Ryuji Kaji : 亜急性に経過した基底核・脳幹部病変, May 2015.
3.	Toshitaka Kawarai, Ryoma Morigaki, Oki Ryosuke, Satoshi Goto and Ryuji Kaji : ALS and TFG, 科学評論社, Apr. 2015. (Keyword) TRK-fused gene (TFG) / amyotrophic lateral sclerosis / hereditary sensory motor neuropathy with proximal dominant involvement / vesicular transport / TDP-43
4.	Ai Miyashiro, Nobuaki Yamamoto, Koji Fujita, Takashi Abe, Yuka Terasawa and Ryuji Kaji : 大脳半球に多発するT2*強調画像の点状低信号, Feb. 2015.
5.	Nobuaki Yamamoto, Ai Miyashiro, Koji Fujita, Takashi Abe and Ryuji Kaji : T1強調画像における基底核高信号, Jun. 2014.
6.	Ryoma Morigaki and Ryuji Kaji : Movement Disordersの内科的治療, Dec. 2013.
7.	Ryuji Kaji, Koutaro Asanuma, Toshitaka Kawarai, Yoshimichi Miyazaki, Ryoma Morigaki, Satoshi Goto, 目崎高広, 太田悦朗, 小幡文弥, 豊島至, 藤本健一, 野村哲志, 中島健二, Takashi Sakamoto, Kenta Sato, 平孝臣, 横地房子, 小林一太, 片山容一, 小林武夫, 石毛美代子, 松本英之, 宇川義一, 玉川聡, 辻貞俊, 堀内正浩 and 長谷川一子 : ジストニアのすべて―最新の治療指針, 株式会社診断と治療社, Tokyo, May 2013.
8.	Ryoma Morigaki, Ryuji Kaji, Shinji Nagahiro and Satoshi Goto : Thalamic deep brain stimulation for Parkinsons disease., 2011.
9.	Ryoma Morigaki, Shinji Nagahiro, Ryuji Kaji and Satoshi Goto : Current use of thalamic surgeries or treating movement disorders, 2011.

Academic Paper (Judged Full Paper):

1.	Naoko Matsui, Keiko Tanaka, Mitsuyo Ishida, Yohei Yamamoto, Yuri Matsubara, Reiko Saika, Takahiro Iizuka, Koshi Nakamura, Nagato Kuriyama, Makoto Matsui, Kokichi Arisawa, Yosikazu Nakamura, Ryuji Kaji, Satoshi Kuwabara and Yuishin Izumi : Prevalence, Clinical Profiles, and Prognosis of Stiff-Person Syndrome in a Japanese Nationwide Survey., Neurology® Neuroimmunology & Neuroinflammation, Vol.10, No.6, e200165, 2023. (Summary) 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. (Keyword) Adult / Aged / Aged, 80 and over / Female / Humans / Male / Middle Aged / Antibodies / East Asian People / Glutamate Decarboxylase / Immunotherapy / Prevalence / Prognosis / Stiff-Person Syndrome (Link to Publication Site) ● Publication site (DOI): 10.1212/NXI.0000000000200165 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 37739810 ● Search Scopus @ Elsevier (PMID): 37739810 ● Search Scopus @ Elsevier (DOI): 10.1212/NXI.0000000000200165 (DOI: 10.1212/NXI.0000000000200165, PubMed: 37739810)
2.	R Nakamura, G Tohnai, M Nakatochi, N Atsuta, H Watanabe, D Ito, M Katsuno, A Hirakawa, Yuishin Izumi, M Morita, T Hirayama, O Kano, K Kanai, N Hattori, A Taniguchi, N Suzuki, M Aoki, I Iwata, I Yabe, K Shibuya, S Kuwabara, M Oda, R Hashimoto, I Aiba, T Ishihara, O Onodera, T Yamashita, K Abe, K Mizoguchi, T Shimizu, Y Ikeda, T Yokota, K Hasegawa, F Tanaka, K Nakashima, Ryuji Kaji, JI Niwa, M Doyu, C Terao, S Ikegawa, K Fujimori, S Nakamura, F Ozawa, S Morimoto, K Onodera, T Ito, Y Okada, H Okano, G Sobue and Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS) study group : 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, Journal of Neurology, Neurosurgery, and Psychiatry, Vol.94, No.10, 816-824, 2023. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1136/jnnp-2022-330851 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 37142397 ● Search Scopus @ Elsevier (PMID): 37142397 ● Search Scopus @ Elsevier (DOI): 10.1136/jnnp-2022-330851 (DOI: 10.1136/jnnp-2022-330851, PubMed: 37142397)
3.	Yasuo Nakahara, Jun Mitsui, Hidetoshi Date, Joyce Kristine Porto, Yasuhiro Hayashi, Atsushi Yamashita, Yoshio Kusakabe, Takashi Matsukawa, Hiroyuki Ishiura, Tsutomu Yasuda, Atsushi Iwata, Jun Goto, Yaeko Ichikawa, Yoshio Momose, Yuji Takahashi, Tatsushi Toda, Rikifumi Ohta, Jun Yoshimura, Shinichi Morishita, K Emil Gustavsson, Darren Christy, Melissa Maczis, J Matthew Farrer, Han-Joon Kim, Sung-Sup Park, Beomseok Jeon, Jin Zhang, Weihong Gu, W Sonja Scholz, B Andrew Singleton, Henry Houlden, Ichiro Yabe, Hidenao Sasaki, Masaaki Matsushima, Hiroshi Takashima, Akio Kikuchi, Masashi Aoki, Kenju Hara, Akiyoshi Kakita, Mitsunori Yamada, Hitoshi Takahashi, Osamu Onodera, Masatoyo Nishizawa, Hirohisa Watanabe, Mizuki Ito, Gen Sobue, Kinya Ishikawa, Hidehiro Mizusawa, Kazuaki Kanai, Satoshi Kuwabara, Kimihito Arai, Shigeru Koyano, Yoshiyuki Kuroiwa, Kazuko Hasegawa, Tatsuhiko Yuasa, Kenichi Yasui, Kenji Nakashima, Hijiri Ito, Yuishin Izumi, Ryuji Kaji, Takeo Kato, Susumu Kusunoki, Yasushi Osaki, Masahiro Horiuchi, Ken Yamamoto, Mihoko Shimada, Taku Miyagawa, Yosuke Kawai, Nao Nishida, Katsushi Tokunaga, Alexandra Dürr, Alexis Brice, Alessandro Filla, Thomas Klockgether, Ullrich Wüllner, M Caroline Tanner, A Walter Kukull, M-Y Virginia Lee, Eliezer Masliah, A Phillip Low, Paola Sandroni, Laurie Ozelius, Tatiana Foroud and Shoji Tsuji : Genome-wide association study identifies a new susceptibility locus in for Multiple System Atrophy., medRxiv : the preprint server for health sciences, 2023. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1101/2023.05.02.23289328 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 37425910 ● Search Scopus @ Elsevier (PMID): 37425910 ● Search Scopus @ Elsevier (DOI): 10.1101/2023.05.02.23289328 (DOI: 10.1101/2023.05.02.23289328, PubMed: 37425910)
4.	M Higashihara, Hiroki Yamazaki, Yuishin Izumi, M Kobayashi, Hiroyuki Nodera, C Oishi, A Iwata, S Murayama, Ryuji Kaji and M Sonoo : Far-field potential of the compound muscle action potential as a reliable marker in amyotrophic lateral sclerosis, Muscle & Nerve, Vol.68, No.3, 257-263, 2023. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1002/mus.27829 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 37086196 ● Search Scopus @ Elsevier (PMID): 37086196 ● Search Scopus @ Elsevier (DOI): 10.1002/mus.27829 (DOI: 10.1002/mus.27829, PubMed: 37086196)
5.	Ryuji Kaji, Ai Miyashiro, Nori Sato, Taiki Furumoto, Toshiaki Takeuchi, Ryosuke Miyamoto, Tomoko Kohda, Yuishin Izumi and Shunji Kozaki : A Pilot Study of A2NTX, a Novel Low-Molecular-Weight Neurotoxin Derived from Subtype A2 for Post-Stroke Lower Limb Spasticity: Comparison with OnabotulinumtoxinA., Toxins, Vol.14, No.11, 2022. (Summary) = 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. (Keyword) Humans / Botulinum Toxins, Type A / Hand Strength / Lower Extremity / Muscle Spasticity / Neuromuscular Agents / Neurotoxins / Pilot Projects / Stroke / Treatment Outcome (Tokushima University Institutional Repository) ● Metadata: 118076 (Link to Publication Site) ● Publication site (DOI): 10.3390/toxins14110739 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 36355989 ● Search Scopus @ Elsevier (PMID): 36355989 ● Search Scopus @ Elsevier (DOI): 10.3390/toxins14110739 (Tokushima University Institutional Repository: 118076, DOI: 10.3390/toxins14110739, PubMed: 36355989)
6.	Naoko Matsui, Mika Takahara, Hiroki Yamazaki, Naoko Takamatsu, Yusuke Osaki, Ryuji Kaji, Ichizo Nishino, Satoshi Yamashita and Yuishin Izumi : A case of anti-NT5c1A antibody-seropositive inclusion body myositis associated with severe dysphagia and prominent forearm weakness, Neurology and Clinical Neuroscience, Vol.11, No.1, 46-48, 2022. (Link to Publication Site) ● Publication site (DOI): 10.1111/ncn3.12678 (Link to Search Site for Scientific Articles) ● Search Scopus @ Elsevier (DOI): 10.1111/ncn3.12678 (DOI: 10.1111/ncn3.12678)
7.	Ryosuke Oki, Yuishin Izumi, Koji Fujita, Ryosuke Miyamoto, Hiroyuki Nodera, Yasutaka Sato, Satoshi Sakaguchi, Hiroshi Nokihara, Kazuaki Kanai, Taiji Tsunemi, Nobutaka Hattori, Yuki Hatanaka, Masahiro Sonoo, Naoki Atsuta, Gen Sobue, Toshio Shimizu, Kazumoto Shibuya, Ken Ikeda, Osamu Kano, Kazuto Nishinaka, Yasuhiro Kojima, Masaya Oda, Kiyonobu Komai, Hitoshi Kikuchi, Nobuo Kohara, Makoto Urushitani, Yoshiaki Nakayama, Hidefumi Ito, Makiko Nagai, Kazutoshi Nishiyama, Daisuke Kuzume, Shun Shimohama, Takayoshi Shimohata, Koji Abe, Tomohiko Ishihara, Osamu Onodera, Sagiri Isose, Nobuyuki Araki, Mitsuya Morita, Kazuyuki Noda, Tatsushi Toda, Hirofumi Maruyama, Hirokazu Furuya, Satoshi Teramukai, Tatsuo Kagimura, Kensuke Noma, Hiroaki Yanagawa, Satoshi Kuwabara and Ryuji Kaji : Efficacy and Safety of Ultrahigh-Dose Methylcobalamin in Early-Stage Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial., JAMA Neurology, Vol.79, No.6, 575-583, 2022. (Summary) ClinicalTrials.gov Identifier: NCT03548311. (Keyword) Amyotrophic Lateral Sclerosis / Double-Blind Method / Humans / Male / Middle Aged / Treatment Outcome / Vital Capacity / Vitamin B 12 (Tokushima University Institutional Repository) ● Metadata: 118371 (Link to Publication Site) ● Publication site (DOI): 10.1001/jamaneurol.2022.0901 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 35532908 ● Search Scopus @ Elsevier (PMID): 35532908 ● Search Scopus @ Elsevier (DOI): 10.1001/jamaneurol.2022.0901 (Tokushima University Institutional Repository: 118371, DOI: 10.1001/jamaneurol.2022.0901, PubMed: 35532908)
8.	Naohiro Egawa, Yuishin Izumi, Hidefumi Suzuki, Itaru Tsuge, Koji Fujita, Hitoshi Shimano, Keiichi Izumikawa, Nobuhiro Takahashi, Kayoko Tsukita, Takako Enami, Masahiro Nakamura, Akira Watanabe, Motoko Naitoh, Shigehiko Suzuki, Tsuneyoshi Seki, Kazuhiro Kobayashi, Tatsushi Toda, Ryuji Kaji, Ryosuke Takahashi and Haruhisa Inoue : TDP-43 regulates cholesterol biosynthesis by inhibiting sterol regulatory element-binding protein 2., Scientific Reports, Vol.12, No.1, 2022. (Summary) 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. (Keyword) Amyotrophic Lateral Sclerosis / Animals / DNA-Binding Proteins / Humans / Mice / Motor Neuron Disease / Sterol Regulatory Element Binding Protein 2 / Sterols (Tokushima University Institutional Repository) ● Metadata: 117387 (Link to Publication Site) ● Publication site (DOI): 10.1038/s41598-022-12133-4 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 35568729 ● Search Scopus @ Elsevier (PMID): 35568729 ● Search Scopus @ Elsevier (DOI): 10.1038/s41598-022-12133-4 (Tokushima University Institutional Repository: 117387, DOI: 10.1038/s41598-022-12133-4, PubMed: 35568729)
9.	G Tohnai, R Nakamura, N Atsuta, M Nakatochi, N Hayashi, D Ito, H Watanabe, H Watanabe, M Katsuno, Yuishin Izumi, A Taniguchi, K Kanai, M Morita, O Kano, S Kuwabara, M Oda, K Abe, M Aoki, I Aiba, K Okamoto, K Mizoguchi, T Ishihara, A Kawata, T Yokota, K Hasegawa, I Nagano, I Yabe, F Tanaka, S Kuru, N Hattori, K Nakashima, Ryuji Kaji, G Sobue and Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS) : Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis, Neurobiology of Aging, Vol.113, 131-136, 2022. (Summary) 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. (Keyword) Amyotrophic Lateral Sclerosis / Exome / Genetic Predisposition to Disease / Heat-Shock Proteins / Humans / Japan / Molecular Chaperones / Mutation (Link to Publication Site) ● Publication site (DOI): 10.1016/j.neurobiolaging.2021.12.002 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 35039179 ● Search Scopus @ Elsevier (PMID): 35039179 ● Search Scopus @ Elsevier (DOI): 10.1016/j.neurobiolaging.2021.12.002 (DOI: 10.1016/j.neurobiolaging.2021.12.002, PubMed: 35039179)
10.	T Takeuchi, T Okuno, A Miyashiro, T Kohda, Ryosuke Miyamoto, Yuishin Izumi, S Kozaki and Ryuji Kaji : Clinical safety and tolerability of A2NTX, a novel low-molecular-weight neurotoxin derived from botulinum neurotoxin subtype A2, in comparison with subtype A1 toxins, Toxins, Vol.13, No.11, 824, 2021. (Summary) 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. (Keyword) Adolescent / Adult / Aged / Aged, 80 and over / Botulinum Toxins, Type A / Case-Control Studies / Dose-Response Relationship, Drug / Female / Humans / Male / Middle Aged / Molecular Weight / Neuromuscular Agents / Retrospective Studies / Young Adult (Tokushima University Institutional Repository) ● Metadata: 117149 (Link to Publication Site) ● Publication site (DOI): 10.3390/toxins13110824 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 34822610 ● Summary page in Scopus @ Elsevier: 2-s2.0-85119953968 (Tokushima University Institutional Repository: 117149, DOI: 10.3390/toxins13110824, PubMed: 34822610, Elsevier: Scopus)
11.	Wataru Sako, Yuishin Izumi, Takashi Abe, Shotaro Haji, Nagahisa Murakami, Yusuke Osaki, Yuki Matsumoto, Masafumi Harada and Ryuji Kaji : MR spectroscopy and imaging-derived measurements in the supplementary motor area for biomarkers of amyotrophic lateral sclerosis, Neurological Sciences, Vol.42, No.10, 4257-4263, 2021. (Link to Publication Site) ● Publication site (DOI): 10.1007/s10072-021-05107-3 (Link to Search Site for Scientific Articles) ● Summary page in Scopus @ Elsevier: 2-s2.0-85100872799 (DOI: 10.1007/s10072-021-05107-3, Elsevier: Scopus)
12.	Yusuke Osaki, Hiroyuki Nodera, Tatsuya Fukumoto, Ryuji Kaji and Yuishin Izumi : Peripheral nerve dysfunction in a patient with thyrotoxic periodic paralysis: Evidence from an axonal prolonged exercise test, Clinical Neurophysiology, Vol.132, No.7, 1496-1498, 2021. (Keyword) Adolescent / Adult / Axons / Exercise Test / Humans / Hypokalemic Periodic Paralysis / Male / Peripheral Nerves (Link to Publication Site) ● Publication site (DOI): 10.1016/j.clinph.2021.04.006 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 34030052 ● Summary page in Scopus @ Elsevier: 2-s2.0-85106374066 (DOI: 10.1016/j.clinph.2021.04.006, PubMed: 34030052, Elsevier: Scopus)
13.	Hiroshi Koyama, Hideo Mure, Ryoma Morigaki, Ryosuke Miyamoto, Kazuhisa Miyake, Taku Matsuda, Koji Fujita, Yuishin Izumi, Ryuji Kaji, Satoshi Goto and Yasushi Takagi : Long-Term Follow-Up of 12 Patients Treated with Bilateral Pallidal Stimulation for Tardive Dystonia, Life, Vol.11, No.6, 477, 2021. (Summary) 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. (Tokushima University Institutional Repository) ● Metadata: 116561 (Link to Publication Site) ● Publication site (DOI): 10.3390/life11060477 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 34074009 ● Summary page in Scopus @ Elsevier: 2-s2.0-85107554331 (Tokushima University Institutional Repository: 116561, DOI: 10.3390/life11060477, PubMed: 34074009, Elsevier: Scopus)
14.	Shotaro Haji, Wataru Sako, Nagahisa Murakami, Yusuke Osaki, Takahiro Furukawa, Yuishin Izumi and Ryuji Kaji : The value of serum uric acid as a prognostic biomarker in amyotrophic lateral sclerosis: Evidence from a meta-analysis, Clinical Neurology and Neurosurgery, Vol.203, 106566, 2021. (Tokushima University Institutional Repository) ● Metadata: 116650 (Link to Publication Site) ● Publication site (DOI): 10.1016/j.clineuro.2021.106566 (Link to Search Site for Scientific Articles) ● Search Scopus @ Elsevier (DOI): 10.1016/j.clineuro.2021.106566 (Tokushima University Institutional Repository: 116650, DOI: 10.1016/j.clineuro.2021.106566)
15.	R Nakamura, G Tohnai, N Atsuta, M Nakatochi, N Hayashi, H Watanabe, D Yokoi, H Watanabe, M Katsuno, Yuishin Izumi, A Taniguchi, K Kanai, M Morita, O Kano, S Kuwabara, M Oda, K Abe, M Aoki, I Aiba, K Okamoto, K Mizoguchi, N Hattori, K Nakashima, Ryuji Kaji, G Sobue and Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS) : Genetic and functional analysis of KIF5A variants in Japanese patients with sporadic amyotrophic lateral sclerosis, Neurobiology of Aging, Vol.97, No.147, e11-e17, 2021. (Summary) 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. (Keyword) Amyotrophic Lateral Sclerosis / Asian People / Exons / Genetic Association Studies / Genetic Predisposition to Disease / Humans / Japan / Kinesins / Loss of Function Mutation (Link to Publication Site) ● Publication site (DOI): 10.1016/j.neurobiolaging.2020.07.010 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 32888732 ● Search Scopus @ Elsevier (PMID): 32888732 ● Search Scopus @ Elsevier (DOI): 10.1016/j.neurobiolaging.2020.07.010 (DOI: 10.1016/j.neurobiolaging.2020.07.010, PubMed: 32888732)
16.	Tsuyoshi Okuno, T Takeuchi, E Takeda, Yuishin Izumi and Ryuji Kaji : Clinical uses of a robot (hybrid-assisted limb or HALTM)in patients with post-stroke spasticity after botulinum toxin injections, The Journal of Medical Investigation : JMI, Vol.68, No.3,4, 297-301, 2021. (Summary) 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. (Keyword) Botulinum Toxins, Type A / Humans / Muscle Spasticity / Neuromuscular Agents / Robotics / Treatment Outcome (Tokushima University Institutional Repository) ● Metadata: 116385 (Link to Publication Site) ● Publication site (DOI): 10.2152/jmi.68.297 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 34759148 ● Search Scopus @ Elsevier (PMID): 34759148 ● Search Scopus @ Elsevier (DOI): 10.2152/jmi.68.297 (Tokushima University Institutional Repository: 116385, DOI: 10.2152/jmi.68.297, PubMed: 34759148)
17.	R Nakamura, K Misawa, G Tohnai, M Nakatochi, S Furuhashi, N Atsuta, N Hayashi, D Yokoi, H Watanabe, M Katsuno, Yuishin Izumi, K Kanai, N Hattori, M Morita, A Taniguchi, O Kano, M Oda, K Shibuya, S Kuwabara, N Suzuki, M Aoki, Y Ohta, T Yamashita, K Abe, R Hashimoto, I Aiba, K Okamoto, K Mizoguchi, K Hasegawa, Y Okada, T Ishihara, O Onodera, K Nakashima, Ryuji Kaji, Y Kamatani, S Ikegawa, Y Momozawa, M Kubo, N Ishida, N Minegishi, M Nagasaki and G Sobue : A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis, Communications Biology, Vol.3, No.1, 526, 2020. (Summary) 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. (Keyword) Amyotrophic Lateral Sclerosis / Asian Continental Ancestry Group / Case-Control Studies / China / Coenzyme A Ligases / European Continental Ancestry Group / Female / Genes / Genetic Predisposition to Disease / Genome-Wide Association Study / Humans / Japan / Male / Polymorphism, Single Nucleotide (Tokushima University Institutional Repository) ● Metadata: 116518 (Link to Publication Site) ● Publication site (DOI): 10.1038/s42003-020-01251-2 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 32968195 ● Search Scopus @ Elsevier (PMID): 32968195 ● Search Scopus @ Elsevier (DOI): 10.1038/s42003-020-01251-2 (Tokushima University Institutional Repository: 116518, DOI: 10.1038/s42003-020-01251-2, PubMed: 32968195)
18.	Ryoma Morigaki, Ryosuke Miyamoto, Hideo Mure, Koji Fujita, Taku Matsuda, Yoko Yamamoto, Masahito Nakataki, Tetsuya Okahisa, Yuki Matsumoto, Kazuhisa Miyake, Nobuaki Yamamoto, Ryuji Kaji, Yasushi Takagi and Satoshi Goto : Can Pallidal Deep Brain Stimulation Rescue Borderline Dystonia? Possible Coexistence of Functional (Psychogenic) and Organic Components., Brain Sciences, Vol.10, No.9, 636, 2020. (Summary) 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. (Tokushima University Institutional Repository) ● Metadata: 116502 (Link to Publication Site) ● Publication site (DOI): 10.3390/brainsci10090636 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 32942724 ● Search Scopus @ Elsevier (PMID): 32942724 ● Search Scopus @ Elsevier (DOI): 10.3390/brainsci10090636 (Tokushima University Institutional Repository: 116502, DOI: 10.3390/brainsci10090636, PubMed: 32942724)
19.	Ryosuke Miyamoto, Toshitaka Kawarai, T Takeuchi, Yuishin Izumi, Satoshi Goto and Ryuji Kaji : Efficacy of Istradefylline for the Treatment of ADCY5-Related Disease, Movement Disorders Clinical Practice, Vol.7, No.7, 852-853, 2020. (Summary) View Supplementary Video 1 View Supplementary Video 2. (Link to Publication Site) ● Publication site (DOI): 10.1002/mdc3.13067 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 33043083 ● Search Scopus @ Elsevier (PMID): 33043083 ● Search Scopus @ Elsevier (DOI): 10.1002/mdc3.13067 (DOI: 10.1002/mdc3.13067, PubMed: 33043083)
20.	N Hayashi, N Atsuta, D Yokoi, R Nakamura, M Nakatochi, M Katsuno, Yuishin Izumi, K Kanai, N Hattori, A Taniguchi, M Morita, O Kano, K Shibuya, S Kuwabara, N Suzuki, M Aoki, I Aiba, K Mizoguchi, M Oda, Ryuji Kaji and G Sobue : Prognosis of Amyotrophic Lateral Sclerosis Patients Undergoing Tracheostomy Invasive Ventilation Therapy in Japan, Journal of Neurology, Neurosurgery, and Psychiatry, Vol.91, No.3, 285-290, 2020. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1136/jnnp-2019-322213 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 31937581 ● Summary page in Scopus @ Elsevier: 2-s2.0-85077977240 (DOI: 10.1136/jnnp-2019-322213, PubMed: 31937581, Elsevier: Scopus)
21.	Nagahisa Murakami, Wataru Sako, Shotaroh Haji, T Furukawa, Y Otomi, H Otsuka, Yuishin Izumi, Masafumi Harada and Ryuji Kaji : Differences in Cerebellar Perfusion Between Parkinson's Disease and Multiple System Atrophy, Journal of the Neurological Sciences, Vol.409, 116627, 2020. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jns.2019.116627 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 31865188 ● Summary page in Scopus @ Elsevier: 2-s2.0-85076518855 (DOI: 10.1016/j.jns.2019.116627, PubMed: 31865188, Elsevier: Scopus)
22.	Yuishin Izumi, Ryosuke Oki, Satoshi Kuwabara and Ryuji Kaji : JETALS: The Japanese Early-stage Trial of high dose methylcobalamin for ALS, Brain and Nerve = Shinkei kenkyū no shinpo, Vol.71, No.11, 1261-1269, 2019. (Summary) 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. (Keyword) Amyotrophic Lateral Sclerosis / Double-Blind Method / Humans / Japan / Prospective Studies / Vitamin B 12 (Link to Publication Site) ● Publication site (DOI): 10.11477/mf.1416201436 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 31722312 ● Summary page in Scopus @ Elsevier: 2-s2.0-85074961295 (DOI: 10.11477/mf.1416201436, PubMed: 31722312, Elsevier: Scopus)
23.	Toshitaka Kawarai, Antonio Orlacchio and Ryuji Kaji : Lesser motor disability in adulthood: A ten-year follow-up of a dyskinetic patient with ADCY5 mutation, Journal of the Neurological Sciences, Vol.405, 116383, 2019. (Keyword) Adenylyl Cyclases / Adult / Dystonic Disorders / Follow-Up Studies / Humans / male / Mutation, Missense / Prognosis (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jns.2019.07.001 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 31422281 ● Summary page in Scopus @ Elsevier: 2-s2.0-85070573368 (DOI: 10.1016/j.jns.2019.07.001, PubMed: 31422281, Elsevier: Scopus)
24.	Koji Fujita, Tomoyasu Matsubara, Ryosuke Miyamoto, Hiroyuki Sumikura, Toshiaki Takeuchi, Keiko Saladini Maruyama, Toshitaka Kawarai, Hiroyuki Nodera, Fukashi Udaka, Kodai Kume, Hiroyuki Morino, Hideshi Kawakami, Masato Hasegawa, Ryuji Kaji, Shigeo Murayama and Yuishin Izumi : Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report., BMC Neurology, Vol.19, No.1, 168, 2019. (Summary) 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. (Tokushima University Institutional Repository) ● Metadata: 114373 (Link to Publication Site) ● Publication site (DOI): 10.1186/s12883-019-1402-7 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 31319800 ● Search Scopus @ Elsevier (PMID): 31319800 ● Search Scopus @ Elsevier (DOI): 10.1186/s12883-019-1402-7 (Tokushima University Institutional Repository: 114373, DOI: 10.1186/s12883-019-1402-7, PubMed: 31319800)
25.	Wataru Sako, Takashi Abe, Shotaroh Haji, Nagahisa Murakami, Yusuke Osaki, Yuishin Izumi, Masafumi Harada and Ryuji Kaji : A method for differential diagnosis of parkinsonian syndromes, Acta Neurologica Scandinavica, Vol.140, No.3, 229-235, 2019. (Summary) 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. (Keyword) Aged / Diagnosis, Differential / Female / Humans / Magnetic Resonance Imaging / Male / Mesencephalon / Middle Aged / Multiple System Atrophy / Parkinsonian Disorders / Pons / Supranuclear Palsy, Progressive (Link to Publication Site) ● Publication site (DOI): 10.1111/ane.13136 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 31225648 ● Summary page in Scopus @ Elsevier: 2-s2.0-85067842485 (DOI: 10.1111/ane.13136, PubMed: 31225648, Elsevier: Scopus)
26.	Wataru Sako, Takashi Abe, Yuishin Izumi, Masafumi Harada and Ryuji Kaji : Deterministic-tractography-based approach for diagnosis and disease monitoring of amyotrophic lateral sclerosis, Clinical Neurology and Neurosurgery, Vol.181, 73-75, 2019. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1016/j.clineuro.2019.04.015 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 31009854 ● Summary page in Scopus @ Elsevier: 2-s2.0-85064459749 (DOI: 10.1016/j.clineuro.2019.04.015, PubMed: 31009854, Elsevier: Scopus)
27.	Nagahisa Murakami, Wataru Sako, Shotaroh Haji, Takahiro Furukawa, Yoichi Otomi, Hideki Otsuka, Yuishin Izumi, Masafumi Harada and Ryuji Kaji : Potential Utility of 123I-MIBG Scintigraphy as a Predictor of Falls in Parkinson's Disease, Frontiers in Neurology, Vol.10, 376, 2019. (Summary) 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. (Tokushima University Institutional Repository) ● Metadata: 114903 (Link to Publication Site) ● Publication site (DOI): 10.3389/fneur.2019.00376 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 31031701 ● Summary page in Scopus @ Elsevier: 2-s2.0-85067834785 (Tokushima University Institutional Repository: 114903, DOI: 10.3389/fneur.2019.00376, PubMed: 31031701, Elsevier: Scopus)
28.	Toshitaka Kawarai, Hiroki Yamazaki, Ryosuke Miyamoto, Naoko Takamatsu, Atsuko Mori, Yusuke Osaki, Antonio Orlacchio, Hiroyuki Nodera, Akihiro Hashiguchi, Yujiro Higuchi, Akiko Yoshimura, Hiroshi Takashima and Ryuji Kaji : PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability., Neuromuscular Disorders, Vol.26, No.6, 422-426, 2019. (Summary) 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. (Keyword) Adult / family / female / Gene Dosage / Hereditary Sensory and Motor Neuropathy / Humans / male / Middle Aged / Mutation / Myelin Proteins / Pedigree / Phenotype / Polyneuropathies / RNA Splice Sites (Link to Publication Site) ● Publication site (DOI): 10.1016/j.nmd.2019.03.010 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 31122831 ● Summary page in Scopus @ Elsevier: 2-s2.0-85065707113 (DOI: 10.1016/j.nmd.2019.03.010, PubMed: 31122831, Elsevier: Scopus)
29.	Wataru Sako, Takashi Abe, T Furukawa, R Oki, Shotaroh Haji, Nagahisa Murakami, Yuishin Izumi, Masafumi Harada and Ryuji Kaji : Differences in the intra-cerebellar connections and graph theoretical measures between Parkinson's disease and multiple system atrophy, Journal of the Neurological Sciences, Vol.400, 129-134, 2019. (Summary) 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. (Keyword) Aged / Aged, 80 and over / Cerebellum / Female / Humans / Magnetic Resonance Imaging / Male / Middle Aged / Multiple System Atrophy / Nerve Net / Parkinson Disease (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jns.2019.03.022 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 30928779 ● Summary page in Scopus @ Elsevier: 2-s2.0-85063409926 (DOI: 10.1016/j.jns.2019.03.022, PubMed: 30928779, Elsevier: Scopus)
30.	Hiroyuki Nodera, Y Osaki, Hiroki Yamazaki, A Mori, Yuishin Izumi and Ryuji Kaji : Deep learning for waveform identification of resting needle electromyography signals, Clinical Neurophysiology, Vol.130, No.5, 617-623, 2019. (Summary) 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. (Keyword) Algorithms / Deep Learning / Electromyography / Humans / Muscle, Skeletal / Neural Networks, Computer (Link to Publication Site) ● Publication site (DOI): 10.1016/j.clinph.2019.01.024 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 30870796 ● Summary page in Scopus @ Elsevier: 2-s2.0-85062625222 (DOI: 10.1016/j.clinph.2019.01.024, PubMed: 30870796, Elsevier: Scopus)
31.	Fumiko Nakazeki, Itaru Tsuge, Takahiro Horie, Keiko Imamura, Kayoko Tsukita, Akitsu Hotta, Osamu Baba, Yasuhide Kuwabara, Tomohiro Nishino, Tetsushi Nakao, Masataka Nishiga, Hitoo Nishi, Yasuhiro Nakashima, Yuya Ide, Satoshi Koyama, Masahiro Kimura, Shuhei Tsuji, Motoko Naitoh, Shigehiko Suzuki, Yuishin Izumi, Toshitaka Kawarai, Ryuji Kaji, Takeshi Kimura, Haruhisa Inoue and Koh Ono : MiR-33a is a therapeutic target in SPG4-related hereditary spastic paraplegia human neurons, Clinical Science, Vol.133, No.4, 583-595, 2019. (Summary) 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. (Keyword) 3' Untranslated Regions / Binding Sites / Cells, Cultured / Gene Expression Regulation / Genetic Therapy / Humans / induced pluripotent stem cells / MicroRNAs / Neural Stem Cells / Neurites / Neurogenesis / Oligonucleotides / Phenotype / Spastic Paraplegia, Hereditary / Spastin (Tokushima University Institutional Repository) ● Metadata: 115067 (Link to Publication Site) ● Publication site (DOI): 10.1042/CS20180980 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 30777884 ● Summary page in Scopus @ Elsevier: 2-s2.0-85062006049 (Tokushima University Institutional Repository: 115067, DOI: 10.1042/CS20180980, PubMed: 30777884, Elsevier: Scopus)
32.	Nobuaki Yamamoto, Yuki Yamamoto, Masaaki Korai, Kenji Shimada, Yasuhisa Kanematsu, Yuishin Izumi, Junichiro Satomi, Yasushi Takagi and Ryuji Kaji : Simultaneous approach to tandem occlusion in acute ischemic stroke patients: Percutaneous Transluminal Angioplasty (PTA) using push wire of stent retriever, Journal of Neuroendovascular Therapy, Vol.13, No.6, 257-261, 2019. (Link to Publication Site) ● Publication site (DOI): 10.5797/jnet.cr.2018-0108 (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1390001288147947776 ● Search Scopus @ Elsevier (DOI): 10.5797/jnet.cr.2018-0108 (DOI: 10.5797/jnet.cr.2018-0108, CiNii: 1390001288147947776)
33.	T Matsubara, M Oda, T Takahashi, C Watanabe, Y Tachiyama, H Morino, H Kawakami, Ryuji Kaji, H Maruyama, S Murayama and Yuishin Izumi : Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy, Neuropathology, Vol.39, No.1, 47-53, 2019. (Summary) 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. (Keyword) Amyotrophic Lateral Sclerosis / DNA-Binding Proteins / Disease Progression / Female / Humans / Inclusion Bodies / Middle Aged / Muscular Atrophy, Spinal (Tokushima University Institutional Repository) ● Metadata: 113068 (Link to Publication Site) ● Publication site (DOI): 10.1111/neup.12523 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 30511354 ● Search Scopus @ Elsevier (PMID): 30511354 ● Search Scopus @ Elsevier (DOI): 10.1111/neup.12523 (Tokushima University Institutional Repository: 113068, DOI: 10.1111/neup.12523, PubMed: 30511354)
34.	Hiroyuki Nodera, Kazuki Sogawa, Naoko Takamatsu, Shuji Hashiguchi, Miho Saito, Atsuko Mori, Yusuke Osaki, Yuishin Izumi and Ryuji Kaji : Texture analysis of sonographic muscle images can distinguish myopathic conditions., The Journal of Medical Investigation : JMI, Vol.66, No.3,4, 237-247, 2019. (Summary) 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. (Keyword) Adult / Aged / Aged, 80 and over / Dermatomyositis / Female / Humans / Machine Learning / Male / Middle Aged / Muscle, Skeletal / Myositis, Inclusion Body / Myotonic Dystrophy / Prospective Studies / Ultrasonography (Tokushima University Institutional Repository) ● Metadata: 114035 (Link to Publication Site) ● Publication site (DOI): 10.2152/jmi.66.237 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 31656281 ● Summary page in Scopus @ Elsevier: 2-s2.0-85074149880 (Tokushima University Institutional Repository: 114035, DOI: 10.2152/jmi.66.237, PubMed: 31656281, Elsevier: Scopus)
35.	Hiroyuki Nodera, Y Osaki, Hiroki Yamazaki, A Mori, Yuishin Izumi and Ryuji Kaji : Classification of needle-EMG resting potentials by machine learning, Muscle & Nerve, Vol.59, No.2, 224-229, 2019. (Summary) 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. (Keyword) Electromyography / Evoked Potentials, Motor / Female / Fourier Analysis / Humans / Linear Models / Machine Learning / Male / Muscle, Skeletal / Muscular Diseases / Needles / Rest / Signal Processing, Computer-Assisted (Link to Publication Site) ● Publication site (DOI): 10.1002/mus.26363 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 30353953 ● Summary page in Scopus @ Elsevier: 2-s2.0-85058702574 (DOI: 10.1002/mus.26363, PubMed: 30353953, Elsevier: Scopus)
36.	Yuishin Izumi, Ryosuke Miyamoto, Koji Fujita, Yuki Yamamoto, Hirotsugu Yamada, Tomoyasu Matsubara, Yuki Unai, Ai Tsukamoto, Naoko Takamatsu, Hiroyuki Nodera, Shinya Hayashi, Masaya Oda, Atsuko Mori, Yoshihiko Nishida, Shunsuke Watanabe, Hirohisa Ogawa, Hisanori Uehara, Shigeo Murayama, Masataka Sata and Ryuji Kaji : Distinct Incidence of Takotsubo Syndrome Between Amyotrophic Lateral Sclerosis and Synucleinopathies: A Cohort Study., Frontiers in Neurology, Vol.9, 1099, 2018. (Summary) 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. (Tokushima University Institutional Repository) ● Metadata: 113228 (Link to Publication Site) ● Publication site (DOI): 10.3389/fneur.2018.01099 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 30619056 ● Search Scopus @ Elsevier (PMID): 30619056 ● Search Scopus @ Elsevier (DOI): 10.3389/fneur.2018.01099 (Tokushima University Institutional Repository: 113228, DOI: 10.3389/fneur.2018.01099, PubMed: 30619056)
37.	村上永尚, Wataru Sako, 土師正太郎, Takahiro Furukawa, Naoto Uyama, Youichi Otomi, Yuishin Izumi, Masafumi Harada and Ryuji Kaji : 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, Clinical Neurology, Vol.58, No.Suppl., S213, 2018.
38.	Makoto Kinoshita, Masahito Nakataki, Ryoma Morigaki, Satsuki Sumitani, Satoshi Goto, Ryuji Kaji and Tetsuro Ohmori : 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., Clinical Psychopharmacology and Neuroscience, Vol.16, No.4, 494-496, 2018. (Summary) 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. (Tokushima University Institutional Repository) ● Metadata: 114301 (Link to Publication Site) ● Publication site (DOI): 10.9758/cpn.2018.16.4.494 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 30466222 ● Summary page in Scopus @ Elsevier: 2-s2.0-85055838752 (Tokushima University Institutional Repository: 114301, DOI: 10.9758/cpn.2018.16.4.494, PubMed: 30466222, Elsevier: Scopus)
39.	Yuishin Izumi, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Takashi Kurashige, Yoshimitsu Shimatani, Ryuji Kaji and Hideshi Kawakami : Compound heterozygote mutations in the SIGMAR1 gene in an oldest-old patient with amyotrophic lateral sclerosis., Geriatrics & Gerontology International, Vol.18, No.10, 1519-1520, 2018. (Link to Publication Site) ● Publication site (DOI): 10.1111/ggi.13506 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 30311446 ● Search Scopus @ Elsevier (PMID): 30311446 ● Search Scopus @ Elsevier (DOI): 10.1111/ggi.13506 (DOI: 10.1111/ggi.13506, PubMed: 30311446)
40.	Shunya Nakane, Koji Fujita, Shingo Azuma, Ryo Urushihara, Masaki Kamada, Masafumi Harada, Yuishin Izumi and Ryuji Kaji : CSF cystatin C and diffusion tensor imaging parameters as biomarkers of upper motor neuron degeneration in amyotrophic lateral sclerosis., Clinical Neurology and Neurosurgery, Vol.172, 162-168, 2018. (Summary) 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. (Keyword) Adult / Aged / Aged, 80 and over / Amyotrophic Lateral Sclerosis / Biomarkers / Cystatin C / Diffusion Magnetic Resonance Imaging / Diffusion Tensor Imaging / Female / Humans / Magnetic Resonance Spectroscopy / Male / Middle Aged / Motor Neurons / Multimodal Imaging / Nerve Degeneration (Link to Publication Site) ● Publication site (DOI): 10.1016/j.clineuro.2018.07.008 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 30016754 ● Search Scopus @ Elsevier (PMID): 30016754 ● Search Scopus @ Elsevier (DOI): 10.1016/j.clineuro.2018.07.008 (DOI: 10.1016/j.clineuro.2018.07.008, PubMed: 30016754)
41.	Naoko Matsui, Hiroyuki Nodera, D Kuzume, N Iwasa, Y Unai, W Sakai, Y Miyazaki, H Yamazaki, Yusuke Osaki, A Mori, T Furukawa, A Tsukamoto-Miyashiro, Y Shimatani, M Yamasaki, Yuishin Izumi, S Kusunoki, Kokichi Arisawa and Ryuji Kaji : Guillan-Barre syndrome in local area in Japan, 2006-2015: an epidemiological and clinical study of 108 patients, European Journal of Neurology, Vol.25, No.5, 718-724, 2018. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1111/ene.13569 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 29337417 ● Summary page in Scopus @ Elsevier: 2-s2.0-85042582939 (DOI: 10.1111/ene.13569, PubMed: 29337417, Elsevier: Scopus)
42.	Yuki Yamamoto, Nobuaki Yamamoto, Junichiro Satomi, Idumi Yamaguchi, Masaaki Korai, Yasuhisa Kanematsu, Yasushi Takagi and Ryuji Kaji : Dural arteriovenous fistula in the superior orbital fissure, Surgical Neurology International, Vol.9, No.1, 95, 2018. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.4103/sni.sni_46_18 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 29888029 ● Search Scopus @ Elsevier (PMID): 29888029 ● Search Scopus @ Elsevier (DOI): 10.4103/sni.sni_46_18 (DOI: 10.4103/sni.sni_46_18, PubMed: 29888029)
43.	山上圭, Takahiro Furukawa, Yusuke Osaki, 村上永尚, 中道一生, 西條政幸, Naoko Matsui, Yuishin Izumi and Ryuji Kaji : 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, Neuroinfection, Vol.23, No.1, 151-156, 2018.
44.	Toshitaka Kawarai, Ryosuke Miyamoto, Eiji Nakagawa, Reiko Koichihara, Takashi Sakamoto, Hideo Mure, Ryoma Morigaki, Hidetaka Koizumi, Ryosuke Oki, Celeste Montecchiani, Carlo Caltagirone, Antonio Orlacchio, Ayako Hattori, Hideaki Mashimo, Yuishin Izumi, Takahiro Mezaki, Satoko Kumada, Makoto Taniguchi, Fusako Yokochi, Shinji Saitoh, Satoshi Goto and Ryuji Kaji : Phenotype variability and allelic heterogeneity in KMT2B-Associated disease., Parkinsonism & Related Disorders, 2018. (Summary) 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. (Keyword) Dystonia (Link to Publication Site) ● Publication site (DOI): 10.1016/j.parkreldis.2018.03.022 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 29653907 ● Search Scopus @ Elsevier (PMID): 29653907 ● Search Scopus @ Elsevier (DOI): 10.1016/j.parkreldis.2018.03.022 (DOI: 10.1016/j.parkreldis.2018.03.022, PubMed: 29653907)
45.	Hideo Mure, Ryoma Morigaki, Ryosuke Miyamoto, Masahito Nakataki, 岡久哲也, Shinsuke Katoh, Ryuji Kaji, Yasushi Takagi, Shinji Nagahiro and Satoshi Goto : Multi-disciplinary approach for dystonia patients by treatment with deep brain stimulation, Functional Neurosurgery, Vol.57, 35-39, 2018. (Keyword) ジストニア / 脳深部刺激療法 / 多職種連携 / Dystonia / DBS / Multidisciplinary / Collaboration (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1520572358412476800 (CiNii: 1520572358412476800)
46.	Kozue Kuwabara, Toshitaka Kawarai, Yasushi Ishida, Ryosuke Miyamoto, Ryosuke Oki, Antonio Orlacchio, Yoshiko Nomura, Mitsumasa Fukuda, Eiichi Ishii, Haruo Shintaku and Ryuji Kaji : A novel compound heterozygous TH mutation in a Japanese case of dopa-responsive dystonia with mild clinical course., Parkinsonism & Related Disorders, Vol.46, 87-89, 2017. (Link to Publication Site) ● Publication site (DOI): 10.1016/j.parkreldis.2017.10.019 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 29126763 ● Summary page in Scopus @ Elsevier: 2-s2.0-85034443966 (DOI: 10.1016/j.parkreldis.2017.10.019, PubMed: 29126763, Elsevier: Scopus)
47.	Masaki Kamada, Toshitaka Kawarai, Ryosuke Miyamoto, Rie Kawakita, Yuki Tojima, Celeste Montecchiani, Laura D'Onofrio, Carlo Caltagirone, Antonio Orlacchio and Ryuji Kaji : Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability., Parkinsonism & Related Disorders, Vol.46, 79-83, 2017. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1016/j.parkreldis.2017.10.012 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 29107646 ● Summary page in Scopus @ Elsevier: 2-s2.0-85032279469 (DOI: 10.1016/j.parkreldis.2017.10.012, PubMed: 29107646, Elsevier: Scopus)
48.	Nobuaki Yamamoto, Junichiro Satomi, Yuki Yamamoto, Kenji Shono, Yasuhisa Kanematsu, Yuishin Izumi, Shinji Nagahiro and Ryuji Kaji : Risk Factors of Neurological Deterioration in Patients with Cerebral Infarction due to Large Artery Atherosclerosis, Journal of Stroke & Cerebrovascular Diseases, Vol.26, No.8, 1801-1806, 2017. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jstrokecerebrovasdis.2017.04.011 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 28476508 ● Search Scopus @ Elsevier (PMID): 28476508 ● Search Scopus @ Elsevier (DOI): 10.1016/j.jstrokecerebrovasdis.2017.04.011 (DOI: 10.1016/j.jstrokecerebrovasdis.2017.04.011, PubMed: 28476508)
49.	Toshitaka Kawarai, Celeste Montecchiani, Ryosuke Miyamoto, Fabrizio Gaudiello, Carlo Caltagirone, Yuishin Izumi, Ryuji Kaji and Antonio Orlacchio : Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability., Journal of the Neurological Sciences, Vol.380, 92-97, 2017. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jns.2017.07.011 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 28870597 ● Search Scopus @ Elsevier (PMID): 28870597 ● Search Scopus @ Elsevier (DOI): 10.1016/j.jns.2017.07.011 (DOI: 10.1016/j.jns.2017.07.011, PubMed: 28870597)
50.	Toshitaka Kawarai, Ryoma Morigaki, Ryuji Kaji and Satoshi Goto : Clinicopathological Phenotype and Genetics of X-Linked Dystonia-Parkinsonism (XDP; DYT3; Lubag)., Brain Sciences, Vol.7, No.7, 72, 2017. (Summary) 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. (Tokushima University Institutional Repository) ● Metadata: 114300 (Link to Publication Site) ● Publication site (DOI): 10.3390/brainsci7070072 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 28672841 ● Summary page in Scopus @ Elsevier: 2-s2.0-85021763034 (Tokushima University Institutional Repository: 114300, DOI: 10.3390/brainsci7070072, PubMed: 28672841, Elsevier: Scopus)
51.	Muto Kohei, Naoko Matsui, Unai Yuki, Sakai Waka, Haji Shotaro, Udaka Kengo, Hirokazu Miki, Takahiro Furukawa, Masahiro Abe and Ryuji Kaji : Memory B cell resurgence requires repeated rituximab in myasthenia gravis, Neuromuscular Disorders, Vol.27, No.16, 918-922, 2017. (Summary) 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. (Keyword) Adult / Autoantibodies / B-Lymphocytes / Female / Humans / Immunoglobulins, Intravenous / Immunologic Factors / Middle Aged / Myasthenia Gravis / Receptors, Cholinergic / Rituximab / Treatment Outcome (Link to Publication Site) ● Publication site (DOI): 10.1016/j.nmd.2017.06.012 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 28694074 ● Search Scopus @ Elsevier (PMID): 28694074 ● Search Scopus @ Elsevier (DOI): 10.1016/j.nmd.2017.06.012 (DOI: 10.1016/j.nmd.2017.06.012, PubMed: 28694074)
52.	Naoto Uyama, Hideki Otsuka, Takayoshi Shinya, Youichi Otomi, Masafumi Harada, Wataru Sako, Yuishin Izumi, Ryuji Kaji, Yuya Watanabe, Satoru Takashi and Yamato Kunikane : 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., Nuclear Medicine Communications, Vol.38, No.6, 487-492, 2017. (Summary) 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. (Keyword) 3-Iodobenzylguanidine / Adult / Aged / Aged, 80 and over / Diagnosis, Differential / Dopamine Plasma Membrane Transport Proteins / female / Humans / male / Middle Aged / Myocardial Perfusion Imaging / Parkinson's disease / Parkinsonian Disorders / ROC Curve / Tomography, Emission-Computed, Single-Photon / Tropanes (Link to Publication Site) ● Publication site (DOI): 10.1097/MNM.0000000000000674 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 28410288 ● Summary page in Scopus @ Elsevier: 2-s2.0-85017467575 (DOI: 10.1097/MNM.0000000000000674, PubMed: 28410288, Elsevier: Scopus)
53.	Shu Sogabe, Junichiro Satomi, Yoshiteru Tada, Yasuhisa Kanematsu, Kazuyuki Kuwayama, Kenji Yagi, Shotaroh Yoshioka, Yoshifumi Mizobuchi, Hideo Mure, Izumi Yamaguchi, Takashi Abe, Nobuaki Yamamoto, Keiko Kitazato, Ryuji Kaji, Masafumi Harada and Shinji Nagahiro : Intra-arterial high signals on arterial spin labeling perfusion images predict the occluded internal carotid artery segment, Neuroradiology, Vol.59, No.6, 587-595, 2017. (Summary) 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. (Tokushima University Institutional Repository) ● Metadata: 111444 (Link to Publication Site) ● Publication site (DOI): 10.1007/s00234-017-1828-9 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 28397019 ● Search Scopus @ Elsevier (PMID): 28397019 ● Search Scopus @ Elsevier (DOI): 10.1007/s00234-017-1828-9 (Tokushima University Institutional Repository: 111444, DOI: 10.1007/s00234-017-1828-9, PubMed: 28397019)
54.	Nagahisa Murakami, Keiko Imamura, Yuishin Izumi, Naohiro Egawa, Kayoko Tsukita, Takako Enami, Takuya Yamamoto, Toshitaka Kawarai, Ryuji Kaji and Haruhisa Inoue : Proteasome impairment in neural cells derived from HMSN-P patient iPSCs., Molecular Brain, Vol.10, No.1, 2017. (Summary) 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. (Tokushima University Institutional Repository) ● Metadata: 110142 (Link to Publication Site) ● Publication site (DOI): 10.1186/s13041-017-0286-y (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 28196470 ● Search Scopus @ Elsevier (PMID): 28196470 ● Search Scopus @ Elsevier (DOI): 10.1186/s13041-017-0286-y (Tokushima University Institutional Repository: 110142, DOI: 10.1186/s13041-017-0286-y, PubMed: 28196470)
55.	Yuki Yamamoto, Naoko Matsui, 平松有, Yoshimichi Miyazaki, Hiroyuki Nodera, Yuishin Izumi, 高嶋博 and Ryuji Kaji : Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease., Clinical Neurology, Vol.57, No.2, 82-87, 2017. (Summary) 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. (Keyword) Biomarkers / Cardiomyopathies / carnitine / Charcot-Marie-Tooth Disease / Diagnosis, Differential / Disease Progression / Genetic Testing / Humans / Lipid Metabolism, Inborn Errors / male / Middle Aged / Mitochondrial Myopathies / Mitochondrial Trifunctional Protein / Mitochondrial Trifunctional Protein, beta Subunit / Mutation / Nervous System Diseases / Peripheral Nervous System Diseases / Recurrence / Rhabdomyolysis (Link to Publication Site) ● Publication site (DOI): 10.5692/clinicalneurol.cn-000976 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 28132977 ● Summary page in Scopus @ Elsevier: 2-s2.0-85017414707 (DOI: 10.5692/clinicalneurol.cn-000976, PubMed: 28132977, Elsevier: Scopus)
56.	Takahiro Furukawa, Naoko Matsui, 田中惠子, Yuishin Izumi and Ryuji Kaji : A case of neuromyelitis optica spectrum disorder (NMOSD) with Sjögren's syndrome manifested only brain involvement by preceding parotitis., Clinical Neurology, Vol.57, No.2, 77-81, 2017. (Summary) 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. (Keyword) Adult / Autoantibodies / Biomarkers / brain / female / Humans / Immunosuppressive Agents / magnetic resonance imaging / Methylprednisolone / Neuromyelitis Optica / Parotitis / Plasma Exchange / Pulse Therapy, Drug / Recurrence / Sjögren's syndrome / Tacrolimus / Treatment Outcome (Link to Publication Site) ● Publication site (DOI): 10.5692/clinicalneurol.cn-000924 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 28132975 ● Summary page in Scopus @ Elsevier: 2-s2.0-85017467963 (DOI: 10.5692/clinicalneurol.cn-000924, PubMed: 28132975, Elsevier: Scopus)
57.	Nobuaki Yamamoto, Junichiro Satomi, Yuki Yamamoto, Izumi Yamaguchi, Shinji Nagahiro and Ryuji Kaji : Usefulness of 3-Tesla magnetic resonance arterial spin-labeled imaging for diagnosis of cranial dural arteriovenous fistula, Journal of the Neurological Sciences, Vol.372, 428-432, 2017. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jns.2016.11.011 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 27842984 ● Search Scopus @ Elsevier (PMID): 27842984 ● Search Scopus @ Elsevier (DOI): 10.1016/j.jns.2016.11.011 (DOI: 10.1016/j.jns.2016.11.011, PubMed: 27842984)
58.	Kenji Shono, Junichiro Satomi, Yoshiteru Tada, Yasuhisa Kanematsu, Nobuaki Yamamoto, Yuishin Izumi, Ryuji Kaji, Masafumi Harada and Shinji Nagahiro : Optimal Timing of Diffusion-Weighted Imaging to Avoid False-Negative Findings in Patients With Transient Ischemic Attack, Stroke, Vol.48, No.7, 1990-1992, 2017. (Summary) 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. (Keyword) Aged / Aged, 80 and over / Diffusion Magnetic Resonance Imaging / False Negative Reactions / Female / Humans / Ischemic Attack, Transient / Male / Middle Aged / Retrospective Studies / Risk Factors / Sensitivity and Specificity / Time Factors (Link to Publication Site) ● Publication site (DOI): 10.1161/STROKEAHA.117.014576 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 28536173 ● Summary page in Scopus @ Elsevier: 2-s2.0-85019546161 (DOI: 10.1161/STROKEAHA.117.014576, PubMed: 28536173, Elsevier: Scopus)
59.	Takashi Abe, Toshitaka Kawarai, Koji Fujita, Wataru Sako, Yuka Terasawa, Tsuyoshi Matsuda, Waka Sakai, Ai Tsukamoto-Miyashiro, Naoko Matsui, Yuishin Izumi, Ryuji Kaji and Masafumi Harada : MR Spectroscopy in Patients with Hereditary Diffuse Leukoencephalopathy with Spheroids and Asymptomatic Carriers of Colony-stimulating Factor 1 Receptor Mutation., Magnetic Resonance in Medical Sciences, Vol.16, No.4, 297-303, 2016. (Summary) 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. (Tokushima University Institutional Repository) ● Metadata: 116229 (Link to Publication Site) ● Publication site (DOI): 10.2463/mrms.mp.2016-0016 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 28025469 ● Summary page in Scopus @ Elsevier: 2-s2.0-85031294587 (Tokushima University Institutional Repository: 116229, DOI: 10.2463/mrms.mp.2016-0016, PubMed: 28025469, Elsevier: Scopus)
60.	Hideo Mure, Ryoma Morigaki, Shinya Ohkita, Ryosuke Miyamoto, Ryuji Kaji, Shinji Nagahiro and Satoshi Goto : 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, Functional Neurosurgery, Vol.55, 80-86, 2016. (Keyword) ジストニア / 脳深部刺激療法 / 淡蒼球内接 / 視床吻腹側核 / Dystonia / DBS / GPi / Thalamic Vo nucleus (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1520853833839457024 (CiNii: 1520853833839457024)
61.	Ryoma Morigaki, Hideo Mure, Ryuji Kaji, Shinji Nagahiro and Satoshi Goto : Therapeutic Perspective on Tardive Syndrome with Special Reference to Deep Brain Stimulation, Frontiers in Psychiatry, Vol.7, 207, 2016. (Summary) 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. (Tokushima University Institutional Repository) ● Metadata: 114470 (Link to Publication Site) ● Publication site (DOI): 10.3389/fpsyt.2016.00207 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 28082923 ● Summary page in Scopus @ Elsevier: 2-s2.0-85009160109 (Tokushima University Institutional Repository: 114470, DOI: 10.3389/fpsyt.2016.00207, PubMed: 28082923, Elsevier: Scopus)
62.	Naoki Suzuki, Madoka Mori-Yoshimura, Satoshi Yamashita, Satoshi Nakano, Ken-ya Murata, Yukie Inamori, Naoko Matsui, En Kimura, Hirofumi Kusaka, Tomoyoshi Kondo, Itsuro Higuchi, Ryuji Kaji, Maki Tateyama, Rumiko Izumi, Hiroya Ono, Masaaki Kato, Hitoshi Warita, Toshiaki Takahashi, Ichizo Nishino and Masashi Aoki : Multicenter questionnaire survey for sporadic inclusion body myositis in Japan, Orphanet Journal of Rare Diseases, Vol.11, No.1, 146, 2016. (Summary) 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. (Tokushima University Institutional Repository) ● Metadata: 114517 (Link to Publication Site) ● Publication site (DOI): 10.1186/s13023-016-0524-x (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 27821140 ● Search Scopus @ Elsevier (PMID): 27821140 ● Search Scopus @ Elsevier (DOI): 10.1186/s13023-016-0524-x (Tokushima University Institutional Repository: 114517, DOI: 10.1186/s13023-016-0524-x, PubMed: 27821140)
63.	Takahiro Furukawa, Chieko Ishifune, Shin-ichi Tsukumo, Katsuto Hozumi, Yoichi Maekawa, Naoko Matsui, Ryuji Kaji and Koji Yasutomo : Transmission of survival signals through Delta-like 1 on activated CD4(+) T cells., Scientific Reports, Vol.6, 33692, 2016. (Summary) 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. (Tokushima University Institutional Repository) ● Metadata: 112325 (Link to Publication Site) ● Publication site (DOI): 10.1038/srep33692 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 27659682 ● Summary page in Scopus @ Elsevier: 2-s2.0-84988568998 (Tokushima University Institutional Repository: 112325, DOI: 10.1038/srep33692, PubMed: 27659682, Elsevier: Scopus)
64.	山下雄也, Hiroki Yamazaki, Naoko Matsui, Yoshimichi Miyazaki, 塚本愛, 西野一三, 鈴木重明, 西田善彦, Hiroyuki Nodera, Yuishin Izumi and Ryuji Kaji : A Case of Anti-SRP Positive Immune-mediated Necrotizing Myopathy Treated Effectively with Combined Immunotherapy, The Journal of the Japanese Society of Internal Medicine, Vol.105, No.8, 1443-1450, 2016. (Summary) <p>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．</p> (Keyword) 抗SRP抗体 / 壊死性ミオパチー / 免疫グロブリン大量静注療法 / 免疫抑制薬 (Link to Publication Site) ● Publication site (DOI): 10.2169/naika.105.1443 (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1390282681425704832 ● Search Scopus @ Elsevier (DOI): 10.2169/naika.105.1443 (DOI: 10.2169/naika.105.1443, CiNii: 1390282681425704832)
65.	Toshitaka Kawarai, Ryosuke Miyamoto, Yoshimitsu Shimatani, Antonio Orlacchio and Ryuji Kaji : Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings With Autosomal Recessive Spinocerebellar Ataxia Type 16., JAMA Neurology, Vol.73, No.7, 888-890, 2016. (Link to Publication Site) ● Publication site (DOI): 10.1001/jamaneurol.2016.0647 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 27182963 ● Search Scopus @ Elsevier (PMID): 27182963 ● Search Scopus @ Elsevier (DOI): 10.1001/jamaneurol.2016.0647 (DOI: 10.1001/jamaneurol.2016.0647, PubMed: 27182963)
66.	Wataru Sako, Takashi Abe, Nagahisa Murakami, Yoshimichi Miyazaki, Yuishin Izumi, Masafumi Harada and Ryuji Kaji : Imaging-based differential diagnosis between multiple system atrophy and Parkinson's disease., Journal of the Neurological Sciences, Vol.368, 104-108, 2016. (Summary) 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. (Keyword) Area Under Curve / cerebellum / Diagnosis, Differential / Female / Humans / Male / Middle Aged / Middle Cerebellar Peduncle / Multiple System Atrophy / Parkinson's disease / Putamen / ROC Curve (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jns.2016.06.061 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 27538610 ● Summary page in Scopus @ Elsevier: 2-s2.0-84978114190 (DOI: 10.1016/j.jns.2016.06.061, PubMed: 27538610, Elsevier: Scopus)
67.	山子泰斗, Masaki Hanibuchi, Hirokazu Ogino, 村上永尚, Ryuji Kaji and Yasuhiko Nishioka : A Case of Small Cell Lung Cancer with Diverse Neurological Symptoms due to Paraneoplastic Neurological Syndrome, Japanese Journal of Lung Cancer, Vol.56, No.3, 199-204, 2016. (Summary) <b><i>Background. </i></b>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. <b><i>Case. </i></b>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. <b><i>Conclusion. </i></b>We experienced a case of small cell lung cancer with diverse neurological symptoms due to the presence of paraneoplastic neurological syndrome. (Keyword) Paraneoplastic neurological syndrome / Small cell lung cancer / Lambert-Eaton myasthenic syndrome / Anti-amphiphysin antibody / Anti-ganglioside antibody (Tokushima University Institutional Repository) ● Metadata: 117547 (Link to Publication Site) ● Publication site (DOI): 10.2482/haigan.56.199 (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1390001204681086464 ● Search Scopus @ Elsevier (DOI): 10.2482/haigan.56.199 (Tokushima University Institutional Repository: 117547, DOI: 10.2482/haigan.56.199, CiNii: 1390001204681086464)
68.	Yusuke Osaki, Koji Fujita, Takashi Abe, Masafumi Harada, Yuishin Izumi and Ryuji Kaji : Mystery Case: Parkinsonism in a diabetic uremic patient., Neurology, Vol.86, No.22, e225-7, 2016. (Link to Publication Site) ● Publication site (DOI): 10.1212/WNL.0000000000002713 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 27242385 ● Summary page in Scopus @ Elsevier: 2-s2.0-84973577883 (DOI: 10.1212/WNL.0000000000002713, PubMed: 27242385, Elsevier: Scopus)
69.	Toshitaka Kawarai, Kanto Yamasaki, Atsuko Mori, Naoko Takamatsu, Yusuke Osaki, Chimeglkham Banzrai, Chimeglkham Banzrai, Ryosuke Miyamoto, Ryosuke Oki, Lucia Pedace, Antonio Orlacchio, Hiroyuki Nodera, Akihiro Hashiguchi, Yujiro Higuchi, Hiroshi Takashima, Yoshihiko Nishida, Yuishin Izumi and Ryuji Kaji : MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2, Journal of Neurology, Neurosurgery, and Psychiatry, 2016. (Keyword) Charcot-Marie-Tooth disease / Mitofusin / nonsense-mediated mRNA decay (Link to Publication Site) ● Publication site (DOI): 10.1136/jnnp-2015-312646 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 27154191 ● Search Scopus @ Elsevier (PMID): 27154191 ● Search Scopus @ Elsevier (DOI): 10.1136/jnnp-2015-312646 (DOI: 10.1136/jnnp-2015-312646, PubMed: 27154191)
70.	Kaji Seiji, Toshitaka Kawarai, Miyamoto Ryosuke, Hiroyuki Nodera, Pedace Lucia, Orlacchio Antonio, Yuishin Izumi, Takahashi Ryosuke and Ryuji Kaji : Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis, Journal of the Neurological Sciences, Vol.364, 45-49, 2016. (Summary) 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. (Keyword) SPG10 / ALS / fasciculation (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jns.2016.03.001 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 27084214 ● Summary page in Scopus @ Elsevier: 2-s2.0-84960442703 (DOI: 10.1016/j.jns.2016.03.001, PubMed: 27084214, Elsevier: Scopus)
71.	Chimeglkham Banzrai, Hiroyuki Nodera, Toshitaka Kawarai, Saki Higashi, Ryo Okada, Atsuko Mori, Yoshimitsu Shimatani, Yusuke Osaki and Ryuji Kaji : Impaired Axonal Na(+) Current by Hindlimb Unloading: Implication for Disuse Neuromuscular Atrophy., Frontiers in Physiology, Vol.7, No.364, 45-49, 2016. (Summary) 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. (Tokushima University Institutional Repository) ● Metadata: 109698 (Link to Publication Site) ● Publication site (DOI): 10.3389/fphys.2016.00036 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26909041 ● Summary page in Scopus @ Elsevier: 2-s2.0-84962917589 (Tokushima University Institutional Repository: 109698, DOI: 10.3389/fphys.2016.00036, PubMed: 26909041, Elsevier: Scopus)
72.	Wataru Sako, Nagahisa Murakami, Yuishin Izumi and Ryuji Kaji : The difference of apparent diffusion coefficient in the middle cerebellar peduncle among parkinsonian syndromes: Evidence from a meta-analysis., Journal of the Neurological Sciences, Vol.363, 90-94, 2016. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jns.2016.02.034 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 27000228 ● Search Scopus @ Elsevier (PMID): 27000228 ● Search Scopus @ Elsevier (DOI): 10.1016/j.jns.2016.02.034 (DOI: 10.1016/j.jns.2016.02.034, PubMed: 27000228)
73.	Waka Sakai, Naoko Matsui, Mitsuyo Ishida, Takahiro Furukawa, Yoshimichi Miyazaki, Koji Fujita, Ryosuke Miyamoto, Nobuaki Yamamoto, Wataru Sako, Kenta Sato, Kazuya Kondo, Yoshihiko Nishida, Takao Mitsui, Yuishin Izumi and Ryuji Kaji : Late-onset myasthenia gravis is predisposed to become generalized in the elderly, eNeurologicalSci, Vol.2, 17-20, 2016. (Tokushima University Institutional Repository) ● Metadata: 110923 (Link to Publication Site) ● Publication site (DOI): 10.1016/j.ensci.2016.02.004 (Link to Search Site for Scientific Articles) ● Search Scopus @ Elsevier (DOI): 10.1016/j.ensci.2016.02.004 (Tokushima University Institutional Repository: 110923, DOI: 10.1016/j.ensci.2016.02.004)
74.	Wataru Sako, Takashi Abe, Yuishin Izumi, Masafumi Harada and Ryuji Kaji : Fractional anisotropy in the supplementary motor area correlates with disease duration and severity of amyotrophic lateral sclerosis., Neurological Sciences, Vol.37, No.4, 573-577, 2016. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1007/s10072-016-2487-z (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26809951 ● Summary page in Scopus @ Elsevier: 2-s2.0-84955300415 (DOI: 10.1007/s10072-016-2487-z, PubMed: 26809951, Elsevier: Scopus)
75.	Yoshimitsu Shimatani, Yuta Nakano, Naoko Tsuyama, Shigeo Murayama, Ryosuke Oki, Ryosuke Miyamoto, Nagahisa Murakami, Koji Fujita, Syunsuke Watanabe, Hisanori Uehara, Takashi Abe, Hiroyuki Nodera, Toshitaka Kawarai, Yuishin Izumi and Ryuji Kaji : Extranodal NK/T-cell lymphoma, nasal type, manifesting as rapidly progressive dementia without any mass or enhancing brain lesion., Neuropathology, Vol.36, No.5, 456-463, 2016. (Summary) 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. (Keyword) Brain / Brain Neoplasms / Cauda Equina / Dementia / Disease Progression / Humans / Immunocompetence / Lymphoma, Extranodal NK-T-Cell / Male / Middle Aged / Spinal Cord (Link to Publication Site) ● Publication site (DOI): 10.1111/neup.12285 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26773724 ● Summary page in Scopus @ Elsevier: 2-s2.0-84989259948 (DOI: 10.1111/neup.12285, PubMed: 26773724, Elsevier: Scopus)
76.	Wataru Sako, Takashi Abe, Yuishin Izumi, Masafumi Harada and Ryuji Kaji : The ratio of N-acetyl aspartate to glutamate correlates with disease duration of amyotrophic lateral sclerosis, Journal of Clinical Neuroscience, Vol.27, 110-113, 2016. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jocn.2015.08.044 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26765768 ● Summary page in Scopus @ Elsevier: 2-s2.0-84952673779 (DOI: 10.1016/j.jocn.2015.08.044, PubMed: 26765768, Elsevier: Scopus)
77.	Shunya Nakane, Kaori Furutani, Masafumi Harada, Ryo Urushihara, Naoko Matsui, Yuishin Izumi and Ryuji Kaji : Multimodal analysis based on high-field magnetic resonance and motor evoked potentials: A case report of multiple sclerosis, Clinical & Experimental Neuroimmunology, Vol.8, No.1, 43-46, 2016. (Link to Publication Site) ● Publication site (DOI): 10.1111/cen3.12352 (Link to Search Site for Scientific Articles) ● Search Scopus @ Elsevier (DOI): 10.1111/cen3.12352 (DOI: 10.1111/cen3.12352)
78.	Masaki Kamata, Shunya Nakane, Naoko Matsui, Osamu Higuchi, Sakai Waka, Koji Fujita, Yuishin Izumi, Hidenori Matsuo and Ryuji Kaji : Ocular myasthenia gravis with anti-muscle-specific tyrosine kinase antibodies: Two new cases and a systematic literature review, Clinical & Experimental Neuroimmunology, Vol.7, No.2, 168-173, 2016. (Link to Publication Site) ● Publication site (DOI): 10.1111/cen3.12296 (Link to Search Site for Scientific Articles) ● Summary page in Scopus @ Elsevier: 2-s2.0-84961266632 (DOI: 10.1111/cen3.12296, Elsevier: Scopus)
79.	Nobuaki Yamamoto, Yuishin Izumi, Y Yamamoto, 垂髪祐樹, Ryuji Kaji, Junichiro Satomi and Shinji Nagahiro : ASL1, Clinical Neurology, Vol.56, No.3, 225, 2016.
80.	Ryosuke Oki, Akiko Uchino, Yuishin Izumi, Hirohisa Ogawa, Shigeo Murayama and Ryuji Kaji : An autopsy case of progressive generalized muscle atrophy over 14 years due to post-polio syndrome, Clinical Neurology, Vol.56, No.1, 12-16, 2016. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.5692/clinicalneurol.cn-000761 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26616485 ● CiNii @ National Institute of Informatics (CRID): 1390282680013781248 ● Summary page in Scopus @ Elsevier: 2-s2.0-84957620367 (DOI: 10.5692/clinicalneurol.cn-000761, PubMed: 26616485, CiNii: 1390282680013781248, Elsevier: Scopus)
81.	Hiroyuki Nodera, Naoko Takamatsu, Naoko Matsui, Atsuko Mori, Yuka Terasawa, Yoshimitsu Shimatani, Yusuke Osaki, Keiko Maruyama, Yuishin Izumi and Ryuji Kaji : Intramuscular dissociation of echogenicity in the triceps surae characterizes sporadic inclusion body myositis, European Journal of Neurology, Vol.23, No.3, 588-596, 2016. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1111/ene.12899 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26706399 ● Search Scopus @ Elsevier (PMID): 26706399 ● Search Scopus @ Elsevier (DOI): 10.1111/ene.12899 (DOI: 10.1111/ene.12899, PubMed: 26706399)
82.	Ryoma Morigaki, Ryosuke Miyamoto, Shinya Ohkita, Yoshifumi Mizobuchi, Hideo Mure, Shinji Nagahiro, Ryuji Kaji and Satoshi Goto : Nuclear factor kappa b is under the control of dopamine signaling in the mouse striatum, Neurologia Medico-Chirurgica, Vol.55, 305, 2016.
83.	Yoshimichi Miyazaki, Hidetaka Koizumi, Ryosuke Miyamoto, Toshitaka Kawarai and Ryuji Kaji : Treatment of Isolated Dystonia with Zolpidem, Movement Disorders Clinical Practice, 2015. (Keyword) isolated dystonia / torsion dystonia / zolpidem (Link to Publication Site) ● Publication site (DOI): 10.1002/mdc3.12280 (Link to Search Site for Scientific Articles) ● Search Scopus @ Elsevier (DOI): 10.1002/mdc3.12280 (DOI: 10.1002/mdc3.12280)
84.	Nobuaki Yamamoto, Junichiro Satomi, Yamamoto Yuki, Takahiro Furukawa, Yoshiteru Tada, Masafumi Harada, Shinji Nagahiro and Ryuji Kaji : 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, Journal of the Neurological Sciences, Vol.359, No.1-2, 141-145, 2015. (Summary) 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. (Keyword) 3-T MRI / T2-weighted image / SVS / Two-layered SVS / Diffusion-weighted image / Stroke subtype (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jns.2015.10.033 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26671103 ● Summary page in Scopus @ Elsevier: 2-s2.0-84949635529 (DOI: 10.1016/j.jns.2015.10.033, PubMed: 26671103, Elsevier: Scopus)
85.	Nobuaki Yamamoto, Junichiro Satomi, Yuishin Izumi, Yamamoto Yuki, Shinji Nagahiro and Ryuji Kaji : Predictors of a favorable outcome after recanalization in patients with cerebral major vessel occlusion, Journal of Stroke & Cerebrovascular Diseases, Vol.24, No.12, 2793-2799, 2015. (Summary) 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. (Keyword) magnetic resonance angiography / recanalization / endovascular recanalization / tissue-type plasminogen activator (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jstrokecerebrovasdis.2015.08.012 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26387040 ● Summary page in Scopus @ Elsevier: 2-s2.0-84949727124 (DOI: 10.1016/j.jstrokecerebrovasdis.2015.08.012, PubMed: 26387040, Elsevier: Scopus)
86.	Toshitaka Kawarai, Ryosuke Miyamoto, Atsuko Mori, Ryosuke Oki, Ai Tsukamoto-Miyashiro, Naoko Matsui, Yoshimichi Miyazaki, Antonio Orlacchio, Yuishin Izumi, Yoshihiko Nishida and Ryuji Kaji : Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation., Journal of the Neurological Sciences, Vol.359, No.1-2, 250-255, 2015. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jns.2015.10.045 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26671123 ● Search Scopus @ Elsevier (PMID): 26671123 ● Search Scopus @ Elsevier (DOI): 10.1016/j.jns.2015.10.045 (DOI: 10.1016/j.jns.2015.10.045, PubMed: 26671123)
87.	Ryosuke Miyamoto, Hiroyuki Sumikura, Toshiaki Takeuchi, Mitsuru Sanada, Koji Fujita, Toshitaka Kawarai, Hideo Mure, Ryoma Morigaki, Satoshi Goto, Shigeo Murayama, Yuishin Izumi and Ryuji Kaji : Autopsy case of severe generalized dystonia and static ataxia with marked cerebellar atrophy., Neurology, Vol.85, No.17, 1522-1524, 2015. (Keyword) Asphyxia / Atrophy / Autopsy / brain / Cerebellar Ataxia / cerebellum / Dysphonia / Dystonic Disorders / Humans / male / Middle Aged / Prone Position (Link to Publication Site) ● Publication site (DOI): 10.1212/WNL.0000000000002061 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26408497 ● Search Scopus @ Elsevier (PMID): 26408497 ● Search Scopus @ Elsevier (DOI): 10.1212/WNL.0000000000002061 (DOI: 10.1212/WNL.0000000000002061, PubMed: 26408497)
88.	Wataru Sako, Nagahisa Murakami, Yoshimichi Miyazaki, Takashi Abe, Masafumi Harada, Yuishin Izumi and Ryuji Kaji : The effect of tremor onset on middle cerebellar peduncle of Parkinson's disease., Journal of the Neurological Sciences, Vol.358, No.1-2, 172-177, 2015. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jns.2015.08.1531 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26341153 ● Summary page in Scopus @ Elsevier: 2-s2.0-84956834073 (DOI: 10.1016/j.jns.2015.08.1531, PubMed: 26341153, Elsevier: Scopus)
89.	Takahiro Furukawa, Naoko Matsui, Koji Fujita, Hiroyuki Nodera, Fumitaka Shimizu, Katsuichi Miyamoto, Yukitoshi Takahashi, Takashi Kanda, Susumu Kusunoki, Yuishin Izumi and Ryuji Kaji : CSF cytokine profile distinguishes multifocal motor neuropathy from progressive muscular atrophy., Neurology® Neuroimmunology & Neuroinflammation, Vol.2, No.5, e138, 2015. (Summary) 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. (Tokushima University Institutional Repository) ● Metadata: 109981 (Link to Publication Site) ● Publication site (DOI): 10.1212/NXI.0000000000000138 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26280014 ● Search Scopus @ Elsevier (PMID): 26280014 ● Search Scopus @ Elsevier (DOI): 10.1212/NXI.0000000000000138 (Tokushima University Institutional Repository: 109981, DOI: 10.1212/NXI.0000000000000138, PubMed: 26280014)
90.	Toshitaka Kawarai, Atsushi Tajima, Yukiko Kuroda, Naoki Saji, Antonio Orlacchio, Hideo Terasawa, Hirotaka Shimizu, Yasushi Kita, Yuishin Izumi, Takao Mitsui, Issei Imoto and Ryuji Kaji : A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability., Journal of Neurology, Neurosurgery, and Psychiatry, Vol.87, No.6, 656-662, 2015. (Summary) 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. (Keyword) cerebellar degeneration / ataxia / mutation / whole exome sequencing (Link to Publication Site) ● Publication site (DOI): 10.1136/jnnp-2014-309828 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26157035 ● Summary page in Scopus @ Elsevier: 2-s2.0-84937596766 (DOI: 10.1136/jnnp-2014-309828, PubMed: 26157035, Elsevier: Scopus)
91.	Wataru Sako, Nagahisa Murakami, Yuishin Izumi and Ryuji Kaji : Neurofilament light chain level in cerebrospinal fluid can differentiate Parkinson's disease from atypical parkinsonism: Evidence from a meta-analysis., Journal of the Neurological Sciences, Vol.352, No.1-2, 84-87, 2015. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jns.2015.03.041 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 25868897 ● Summary page in Scopus @ Elsevier: 2-s2.0-84928368241 (DOI: 10.1016/j.jns.2015.03.041, PubMed: 25868897, Elsevier: Scopus)
92.	Naoki Saji, Toshitaka Kawarai, Ryosuke Miyamoto, Takahiro Sato, Hiroyuki Morino, Antonio Orlacchio, Ryosuke Oki, Kazumi Kimura and Ryuji Kaji : Exome sequencing identifies a novel intronic mutation in ENG that causes recurrence of pulmonary arteriovenous malformations., Journal of the Neurological Sciences, Vol.352, No.1-2, 29-33, 2015. (Summary) 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. (Keyword) Exome sequencing / Endoglin (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jns.2015.02.007 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 25868896 ● Summary page in Scopus @ Elsevier: 2-s2.0-84928366268 (DOI: 10.1016/j.jns.2015.02.007, PubMed: 25868896, Elsevier: Scopus)
93.	Satoshi Goto, Ryoma Morigaki, Shinya Okita, Shinji Nagahiro and Ryuji Kaji : Development of a highly sensitive immunohistochemical method to detect neurochemical molecules in formalin-fixed and paraffin-embedded tissues from autopsied human brains., Frontiers in Neuroanatomy, Vol.9, No.22, 2015. (Summary) 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. (Tokushima University Institutional Repository) ● Metadata: 114466 (Link to Publication Site) ● Publication site (DOI): 10.3389/fnana.2015.00022 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 25784860 ● Summary page in Scopus @ Elsevier: 2-s2.0-84925154247 (Tokushima University Institutional Repository: 114466, DOI: 10.3389/fnana.2015.00022, PubMed: 25784860, Elsevier: Scopus)
94.	Nobuaki Yamamoto, Junichiro Satomi, Masafumi Harada, Yuishin Izumi, Shinji Nagahiro and Ryuji Kaji : Is the Susceptibility Vessel Sign on 3-Tesla Magnetic Resonance T2-Weighted Imaging a Useful Tool to Predict Recanalization in Intravenous Tissue Plasminogen Activator?, Clinical Neuroradiology, 2014. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1007/s00062-014-0363-x (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 25516146 ● Search Scopus @ Elsevier (PMID): 25516146 ● Search Scopus @ Elsevier (DOI): 10.1007/s00062-014-0363-x (DOI: 10.1007/s00062-014-0363-x, PubMed: 25516146)
95.	Wataru Sako, Nagahisa Murakami, Yuishin Izumi and Ryuji Kaji : Val66Met polymorphism of brain-derived neurotrophic factor is associated with idiopathic dystonia., Journal of Clinical Neuroscience, Vol.22, No.3, 575-577, 2014. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jocn.2014.08.014 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 25523127 ● Search Scopus @ Elsevier (PMID): 25523127 ● Search Scopus @ Elsevier (DOI): 10.1016/j.jocn.2014.08.014 (DOI: 10.1016/j.jocn.2014.08.014, PubMed: 25523127)
96.	Nobuaki Yamamoto, Junichiro Satomi, Yoshiteru Tada, Masafumi Harada, Yuishin Izumi, Shinji Nagahiro and Ryuji Kaji : The two-1 layered susceptibility vessel sign on 3-tesla T2-weighted imaging is a predictive biomarker of stroke subtype, Stroke, Vol.46, No.1, 269-271, 2014. (Summary) 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. (Keyword) imaging biomarker / 3-tesla magnetic resonance imaging / T2-weighted imaging / susceptibility vessel sign / two-layered susceptibility vessel sign (Link to Publication Site) ● Publication site (DOI): 10.1161/STROKEAHA.114.007227 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 25477219 ● Summary page in Scopus @ Elsevier: 2-s2.0-84920283485 (DOI: 10.1161/STROKEAHA.114.007227, PubMed: 25477219, Elsevier: Scopus)
97.	Nobuaki Yamamoto, Junichiro Satomi, Yuka Terasawa, Sogabe Syu, Kohhei Nakajima, Yasuhito Sato, Bando Kazuhiko, Agawa Masahito, Asano Noboru, Hondo Hideki, Yuishin Izumi, Ryuji Kaji and Shinji Nagahiro : 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, Japanese Journal of Stroke, Vol.36, No.6, 419-424, 2014. (Link to Publication Site) ● Publication site (DOI): 10.3995/jstroke.36.419 (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1390282679616796928 ● Search Scopus @ Elsevier (DOI): 10.3995/jstroke.36.419 (DOI: 10.3995/jstroke.36.419, CiNii: 1390282679616796928)
98.	Yusuke Osaki, Naoko Takamatsu, Yoshimitsu Shimatani, Atsuko Mori, Keiko Maruyama, Yoshimichi Miyazaki, Hiroyuki Nodera and Ryuji Kaji : Ultrasonographic evaluation of myokymic discharges., Clinical Neurophysiology, Vol.126, No.8, 1638-1639, 2014. (Link to Publication Site) ● Publication site (DOI): 10.1016/j.clinph.2014.10.154 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 25465356 ● Search Scopus @ Elsevier (PMID): 25465356 ● Search Scopus @ Elsevier (DOI): 10.1016/j.clinph.2014.10.154 (DOI: 10.1016/j.clinph.2014.10.154, PubMed: 25465356)
99.	Hideo Mure, Ryoma Morigaki, Hidetaka Koizumi, Shinya Okita, Toshitaka Kawarai, Ryosuke Miyamoto, Ryuji Kaji, Shinji Nagahiro and Satoshi Goto : Deep brain stimulation of the thalamic ventral lateral anterior nucleus for DYT6 dystonia., Stereotactic and Functional Neurosurgery, Vol.92, No.6, 393-396, 2014. (Summary) The thalamic VLa nucleus could serve as an alternative target in DBS therapy for DYT6 dystonia. (Keyword) dystonia / deep brain stimulation / DYT6 / mutation / hereditary dystonia (Link to Publication Site) ● Publication site (DOI): 10.1159/000365577 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 25359437 ● Summary page in Scopus @ Elsevier: 2-s2.0-84910089742 (DOI: 10.1159/000365577, PubMed: 25359437, Elsevier: Scopus)
100.	Yoshimitsu Shimatani, Hiroyuki Nodera, Yoshiko Shibuta, Yoshimichi Miyazaki, Sonoko Misawa, Satoshi Kuwabara and Ryuji Kaji : Abnormal gating of axonal slow potassium current in cramp-fasciculation syndrome., Clinical Neurophysiology, Vol.126, No.6, 1246-1254, 2014. (Summary) 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. (Keyword) Adult / Axons / Electromyography / Female / Humans / Ion Channel Gating / Male / Middle Aged / Neural Conduction / Neuromuscular Diseases / Prospective Studies / Small-Conductance Calcium-Activated Potassium Channels (Tokushima University Institutional Repository) ● Metadata: 109500 (Link to Publication Site) ● Publication site (DOI): 10.1016/j.clinph.2014.09.013 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 25304174 ● Search Scopus @ Elsevier (PMID): 25304174 ● Search Scopus @ Elsevier (DOI): 10.1016/j.clinph.2014.09.013 (Tokushima University Institutional Repository: 109500, DOI: 10.1016/j.clinph.2014.09.013, PubMed: 25304174)
101.	Nobuaki Yamamoto, Yuka Terasawa, Junichiro Satomi, Sakai Waka, Masafumi Harada, Yuishin Izumi, Shinji Nagahiro and Ryuji Kaji : Predictors of neurologic deterioration in patients with small-vessel occlusion and infarcts in the territory of perforating arteries, Journal of Stroke & Cerebrovascular Diseases, Vol.23, No.8, 2151-2155, 2014. (Summary) 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. (Keyword) Aged / Aged, 80 and over / Brain Infarction / Cerebral Arteries / Cerebral Ventricles / Diffusion Magnetic Resonance Imaging / Female / Humans / Intracranial Thrombosis / magnetic resonance imaging / Male / Middle Aged / Odds Ratio / Predictive Value of Tests / Risk Factors / smoking / PVH grade / neurologic deterioration / predictors / small vessel occlusion (Tokushima University Institutional Repository) ● Metadata: 106332 (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jstrokecerebrovasdis.2014.04.011 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 25088163 ● Summary page in Scopus @ Elsevier: 2-s2.0-84908209055 (Tokushima University Institutional Repository: 106332, DOI: 10.1016/j.jstrokecerebrovasdis.2014.04.011, PubMed: 25088163, Elsevier: Scopus)
102.	Takahiro Furukawa, Naoko Matsui, Koji Fujita, Ai Miyashiro, Hiroyuki Nodera, Yuishin Izumi, Fumitaka Shimizu, Katsuichi Miyamoto, Yukitoshi Takahashi, Takashi Kanda, Susumu Kusunoki and Ryuji Kaji : Increased proinflammatory cytokines in sera of patients with multifocal motor neuropathy., Journal of the Neurological Sciences, Vol.346, No.1-2, 75-79, 2014. (Summary) Proinflammatory cytokines may contribute to peripheral nerve demyelination in MMN. (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jns.2014.07.059 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 25130929 ● Search Scopus @ Elsevier (PMID): 25130929 ● Search Scopus @ Elsevier (DOI): 10.1016/j.jns.2014.07.059 (DOI: 10.1016/j.jns.2014.07.059, PubMed: 25130929)
103.	酒井和香, Naoko Matsui, Koji Fujita, Yuishin Izumi, 西田喜彦, 高橋利幸, 神林崇 and Ryuji Kaji : Case of neuromyelitis optica spectrum disorder associated with central pontine and extrapontine myelinolysis preceded by syndrome of inappropriate antidiuretic hormone secretion, Clinical Neurology, Vol.54, No.7, 556-560, 2014. (Summary) 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. (Keyword) Adult / Aquaporin 4 / Biomarkers / Brain / Humans / Inappropriate ADH Syndrome / Magnetic Resonance Imaging / Male / Methylprednisolone / Myelinolysis, Central Pontine / Neuromyelitis Optica / Plasma Exchange / Prednisolone / Pulse Therapy, Drug / Sodium / Treatment Outcome (Link to Publication Site) ● Publication site (DOI): 10.5692/clinicalneurol.54.556 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 25087556 ● Summary page in Scopus @ Elsevier: 2-s2.0-84906089774 (DOI: 10.5692/clinicalneurol.54.556, PubMed: 25087556, Elsevier: Scopus)
104.	Hidetaka Koizumi, Satoshi Goto, Shinya Okita, Ryoma Morigaki, Norio Akaike, Yasushi Torii, Tetsuhiro Harakawa, Akihiro Ginnaga and Ryuji Kaji : Spinal Central Effects of Peripherally Applied Botulinum Neurotoxin A in Comparison between Its Subtypes A1 and A2., Frontiers in Neurology, Vol.5, No.98, 2014. (Summary) 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. (Tokushima University Institutional Repository) ● Metadata: 114463 (Link to Publication Site) ● Publication site (DOI): 10.3389/fneur.2014.00098 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 25002857 ● Search Scopus @ Elsevier (PMID): 25002857 ● Search Scopus @ Elsevier (DOI): 10.3389/fneur.2014.00098 (Tokushima University Institutional Repository: 114463, DOI: 10.3389/fneur.2014.00098, PubMed: 25002857)
105.	Wataru Sako, Nagahisa Murakami, Yuishin Izumi and Ryuji Kaji : The difference in putamen volume between MSA and PD: Evidence from a meta-analysis., Parkinsonism & Related Disorders, Vol.20, No.8, 873-877, 2014. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1016/j.parkreldis.2014.04.028 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24844749 ● Search Scopus @ Elsevier (PMID): 24844749 ● Search Scopus @ Elsevier (DOI): 10.1016/j.parkreldis.2014.04.028 (DOI: 10.1016/j.parkreldis.2014.04.028, PubMed: 24844749)
106.	Fumitaka Shimizu, Masatoshi Omoto, Yasuteru Sano, Naoko Matsui, Ai Miyashiro, Ayako Tasaki, Toshihiko Maeda, Michiaki Koga, Ryuji Kaji and Takashi Kanda : Sera from patients with multifocal motor neuropathy disrupt the blood-nerve barrier, Journal of Neurology, Neurosurgery, and Psychiatry, Vol.85, No.5, 526-537, 2014. (Summary) 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. (Keyword) Adolescent / Adult / Amyotrophic Lateral Sclerosis / Blood-Nerve Barrier / Case-Control Studies / Cell Culture Techniques / Electric Impedance / Endothelial Cells / Female / Humans / Male / Middle Aged / Polyneuropathies / Serum / Tight Junctions / Vascular Cell Adhesion Molecule-1 / Young Adult (Link to Publication Site) ● Publication site (DOI): 10.1136/jnnp-2013-305405 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 23926278 ● Summary page in Scopus @ Elsevier: 2-s2.0-84898925618 (DOI: 10.1136/jnnp-2013-305405, PubMed: 23926278, Elsevier: Scopus)
107.	Yoshimichi Miyazaki, Wataru Sako, Kenta Sato, Yuishin Izumi and Ryuji Kaji : MIBG Myocardial Scintigraphy can Predict the Occurrence of Wearing-off Phenomenon in Early-stage Parkinsons Disease, Journal of Neurological Disorders, Vol.2, 154, 2014. (Link to Publication Site) ● Publication site (DOI): 10.4172/2329-6895.1000154 (Link to Search Site for Scientific Articles) ● Search Scopus @ Elsevier (DOI): 10.4172/2329-6895.1000154 (DOI: 10.4172/2329-6895.1000154)
108.	Ai Miyashiro, Naoko Matsui, Yoshimitsu Shimatani, Hiroyuki Nodera, Yuishin Izumi, Satoshi Kawabata, Tomihiro Imai, Masayuki Baba, Tetsuo Komori, Masahiro Sonoo, Takahiro Maezaki, Jun Kawamata, Takefumi Hitomi, Nobuo Kohara, Kimiyoshi Arimura, Shuji Hashimoto, Kokichi Arisawa, Susumu Kusunoki and Ryuji Kaji : Are multifocal motor neuropathy patients underdiagnosed? An epidemiological survey in Japan, Muscle & Nerve, Vol.49, No.3, 357-361, 2014. (Summary) 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. (Keyword) Adolescent / Adult / Aged / Aged, 80 and over / Amyotrophic Lateral Sclerosis / Evoked Potentials, Motor / Female / Hospitals / Humans / Japan / Male / Middle Aged / Peripheral Nervous System Diseases / Retrospective Studies / Young Adult (Tokushima University Institutional Repository) ● Metadata: 105906 (Link to Publication Site) ● Publication site (DOI): 10.1002/mus.23930 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24741683 ● Summary page in Scopus @ Elsevier: 2-s2.0-84893935930 (Tokushima University Institutional Repository: 105906, DOI: 10.1002/mus.23930, PubMed: 24741683, Elsevier: Scopus)
109.	Wataru Sako, Nagahisa Murakami, Yuishin Izumi and Ryuji Kaji : MRI Can Detect Nigral Volume Loss in Patients with Parkinson's Disease: Evidence from a Meta-Analysis., Journal of Parkinson's Disease, 2014. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.3233/JPD-130332 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24577503 ● Search Scopus @ Elsevier (PMID): 24577503 ● Search Scopus @ Elsevier (DOI): 10.3233/JPD-130332 (DOI: 10.3233/JPD-130332, PubMed: 24577503)
110.	Hiroyuki Nodera, Naoko Takamatsu, Yoshimitsu Shimatani, Atsuko Mori, Kenta Sato, Masaya Oda, Yuka Terasawa, Yuishin Izumi and Ryuji Kaji : Thinning of cervical nerve roots and peripheral nerves in ALS as measured by sonography., Clinical Neurophysiology, Vol.125, No.9, 1906-1911, 2014. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1016/j.clinph.2014.01.033 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24657162 ● Search Scopus @ Elsevier (PMID): 24657162 ● Search Scopus @ Elsevier (DOI): 10.1016/j.clinph.2014.01.033 (DOI: 10.1016/j.clinph.2014.01.033, PubMed: 24657162)
111.	Akie Tanabe, Yukio Yamamura, Jiro Kasahara, Ryoma Morigaki, Ryuji Kaji and Satoshi Goto : A novel tyrosine kinase inhibitor AMN107 (nilotinib) normalizes striatal motor behaviors in a mouse model of Parkinson's disease., Frontiers in Cellular Neuroscience, Vol.8, No.50, 2014. (Summary) 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. (Tokushima University Institutional Repository) ● Metadata: 114464 (Link to Publication Site) ● Publication site (DOI): 10.3389/fncel.2014.00050 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24600352 ● Summary page in Scopus @ Elsevier: 2-s2.0-84894260952 (Tokushima University Institutional Repository: 114464, DOI: 10.3389/fncel.2014.00050, PubMed: 24600352, Elsevier: Scopus)
112.	R Kishore Kumar, Katja Lohmann, Ikuo Masuho, Ryosuke Miyamoto, Andreas Ferbert, Thora Lohnau, Meike Kasten, Johann Hagenah, Norbert Brüggemann, Julia Graf, Alexander Münchau, S Vladimir Kostic, M Carolyn Sue, R Aloysius Domingo, L Raymond Rosales, V Lilian Lee, Karen Freimann, Ana Westenberger, Youhei Mukai, Toshitaka Kawarai, Ryuji Kaji, Christine Klein, A Kirill Martemyanov and Alexander Schmidt : Mutations in GNAL: A Novel Cause of Craniocervical Dystonia., JAMA Neurology, 2014. (Summary) 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. (Keyword) Adolescent / Adult / Aged / Aged, 80 and over / Amino Acid Sequence / Child / Female / GTP-Binding Protein alpha Subunits / Germany / Humans / Japan / Male / Middle Aged / Molecular Sequence Data / Mutation / Serbia / Torticollis / Young Adult (Link to Publication Site) ● Publication site (DOI): 10.1001/jamaneurol.2013.4677 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24535567 ● Summary page in Scopus @ Elsevier: 2-s2.0-84899031959 (DOI: 10.1001/jamaneurol.2013.4677, PubMed: 24535567, Elsevier: Scopus)
113.	Yoshiteru Tada, Junichiro Satomi, Takashi Abe, Kazuyuki Kuwayama, Shu Sogabe, Koji Fujita, Nobuaki Yamamoto, Ryuji Kaji, Masafumi Harada and Shinji Nagahiro : Intra-arterial signal on arterial spin labeling perfusion MRI to identify the presence of acute middle cerebral artery occlusion, Cerebrovascular Diseases, Vol.38, No.3, 191-196, 2014. (Summary) 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. (Keyword) Aged / Aged, 80 and over / Cerebral Angiography / Female / Humans / Infarction, Middle Cerebral Artery / Ischemic Attack, Transient / Magnetic Resonance Angiography / magnetic resonance imaging / Male / Middle Aged / Middle Cerebral Artery / Sensitivity and Specificity / Stroke (Link to Publication Site) ● Publication site (DOI): 10.1159/000365653 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 25300901 ● Summary page in Scopus @ Elsevier: 2-s2.0-84912121647 (DOI: 10.1159/000365653, PubMed: 25300901, Elsevier: Scopus)
114.	Mungunkhuyag Majigusuren, Masafumi Harada, Takashi Abe, Koji Fujita, Naoko Matsui and Ryuji Kaji : Longitudinal Monitoring with Multiple MR Techniques in a Case of Progressive Multifocal Leukoencephalopathy Associated with Multiple Myeloma, Magnetic Resonance in Medical Sciences, Vol.13, No.1, 55-59, 2014. (Summary) 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. (Keyword) Disease Progression / Humans / Leukoencephalopathy, Progressive Multifocal / Magnetic Resonance Imaging / Male / Middle Aged / Multiple Myeloma (Link to Publication Site) ● Publication site (DOI): 10.2463/mrms.2013-0037 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24492738 ● Summary page in Scopus @ Elsevier: 2-s2.0-84897898031 (DOI: 10.2463/mrms.2013-0037, PubMed: 24492738, Elsevier: Scopus)
115.	Yohei Mukai, Yoshimitsu Shimatani, Wataru Sako, Kotaro Asanuma, Hiroyuki Nodera, Takashi Sakamoto, Yuishin Izumi, Tomoko Kohda, Shunji Kozaki and Ryuji Kaji : Comparison between botulinum neurotoxin type A2 and type A1 by electrophysiological study in healthy individuals., Toxicon, Vol.81, 32-36, 2014. (Summary) 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. (Tokushima University Institutional Repository) ● Metadata: 106136 (Link to Publication Site) ● Publication site (DOI): 10.1016/j.toxicon.2013.12.012 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24495439 ● Search Scopus @ Elsevier (PMID): 24495439 ● Search Scopus @ Elsevier (DOI): 10.1016/j.toxicon.2013.12.012 (Tokushima University Institutional Repository: 106136, DOI: 10.1016/j.toxicon.2013.12.012, PubMed: 24495439)
116.	Nobuaki Yamamoto, Yuka Terasawa, Junichiro Satomi, Ryoma Morigaki, Koji Fujita, Yuishin Izumi, Shinji Nagahiro and Ryuji Kaji : Reversibility of ischemic findings on 3-tesla magnetic resonance T2()-weighted image after recanalization, The Journal of Medical Investigation : JMI, Vol.61, No.1,2, 190-196, 2014. (Summary) 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. (Keyword) Administration, Intravenous / Aged / Aged, 80 and over / Angioplasty / Carotid Arteries / Carotid Stenosis / Diffusion Magnetic Resonance Imaging / Disease Progression / Female / Humans / ischemia / Male / Middle Aged / Retrospective Studies / Stents / Time Factors / Tissue Plasminogen Activator / Treatment Outcome (Tokushima University Institutional Repository) ● Metadata: 109553 (Link to Publication Site) ● Publication site (DOI): 10.2152/jmi.61.190 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24705765 ● Summary page in Scopus @ Elsevier: 2-s2.0-84897951917 (Tokushima University Institutional Repository: 109553, DOI: 10.2152/jmi.61.190, PubMed: 24705765, Elsevier: Scopus)
117.	Masaki Kamada, Yuishin Izumi, T Ayaki, Masataka Nakamura, Seiko Kagawa, Eiji Kudo, Wataru Sako, Hirofumi Maruyama, Y Nishida, Hideshi Kawakami, Hidefumi Ito and Ryuji Kaji : Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation, Neuropathology, Vol.34, No.1, 64-70, 2014. (Summary) 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. (Keyword) Amyotrophic Lateral Sclerosis / Female / Genes, Recessive / Humans / Middle Aged / Mutation / Transcription Factor TFIIIA (Link to Publication Site) ● Publication site (DOI): 10.1111/neup.12051 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 23889540 ● Summary page in Scopus @ Elsevier: 2-s2.0-84892808067 (DOI: 10.1111/neup.12051, PubMed: 23889540, Elsevier: Scopus)
118.	Naoko Matsui, Izumi Ohigashi, Keijirou Tanaka, Mie Sakata, Takahiro Furukawa, Yasushi Nakagawa, Kazuya Kondo, Tetsuya Kitagawa, Sumimasa Yamashita, Yoshiko Nomura, Yousuke Takahama and Ryuji Kaji : Increased number of Hassall's corpuscles in myasthenia gravis patients with thymic hyperplasia., Journal of Neuroimmunology, Vol.269, No.1-2, 56-61, 2014. (Summary) 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. (Keyword) Adult / Aged / Cell Count / Cell Differentiation / Chemokine CCL21 / Epithelial Cells / Female / Humans / Infant / Male / Middle Aged / Myasthenia Gravis / Thymus Hyperplasia (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jneuroim.2014.01.011 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24556356 ● Summary page in Scopus @ Elsevier: 2-s2.0-84896393117 (DOI: 10.1016/j.jneuroim.2014.01.011, PubMed: 24556356, Elsevier: Scopus)
119.	Wataru Sako, Yoshimichi Miyazaki, Yuishin Izumi and Ryuji Kaji : Which target is best for patients with Parkinson's disease? A meta-analysis of pallidal and subthalamic stimulation., Journal of Neurology, Neurosurgery, and Psychiatry, Vol.85, No.9, 982-986, 2014. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1136/jnnp-2013-306090 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24444854 ● Summary page in Scopus @ Elsevier: 2-s2.0-84905592244 (DOI: 10.1136/jnnp-2013-306090, PubMed: 24444854, Elsevier: Scopus)
120.	Yuka Terasawa, Nobuaki Yamamoto, Ryoma Morigaki, Koji Fujita, Yuishin Izumi, Junichiro Satomi, Masafumi Harada, Shinji Nagahiro and Ryuji Kaji : Brush sign on 3-T t2-weighted MRI as a potential predictor of hemorrhagic transformation after tissue plasminogen activator therapy, Stroke, Vol.45, No.1, 274-276, 2014. (Summary) 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. (Keyword) Aged / Aged, 80 and over / Cerebral Hemorrhage / Disease Progression / Female / Fibrinolytic Agents / Humans / Image Processing, Computer-Assisted / Intracranial Embolism / Magnetic Resonance Imaging / Male / Middle Aged / Prognosis / Prospective Studies / Stroke / Thrombolytic Therapy / Tissue Plasminogen Activator / Treatment Outcome (Link to Publication Site) ● Publication site (DOI): 10.1161/STROKEAHA.113.002640 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24172577 ● Summary page in Scopus @ Elsevier: 2-s2.0-85027928664 (DOI: 10.1161/STROKEAHA.113.002640, PubMed: 24172577, Elsevier: Scopus)
121.	Ryoma Morigaki, Toshitaka Kawarai, Shinya Ohkita, Hideo Mure, 小泉英貴, Yoshifumi Mizobuchi, Shinji Nagahiro, Ryuji Kaji and Satoshi Goto : X-linked dystonia-parkinsonismのニューロペプチドYシステム, Functional Neurosurgery, Vol.53, 47-55, 2014. (Keyword) X-linked dystonia-parkinsonism / DYT3 / Neuropeptide Y / Striatum / Striosome (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1520290884129170304 (CiNii: 1520290884129170304)
122.	Takao Mitsui, Yukiko Kuroda, Shu-ichi Ueono, Naoko Matsui and Ryuji Kaji : FK506 attenuates thymic output in patients with myasthenia gravis, Archives of Medical Science : AMS, Vol.9, No.6, 1090-1096, 2013. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.5114/aoms.2013.39797 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24482655 ● Search Scopus @ Elsevier (PMID): 24482655 ● Search Scopus @ Elsevier (DOI): 10.5114/aoms.2013.39797 (DOI: 10.5114/aoms.2013.39797, PubMed: 24482655)
123.	Ryosuke Miyamoto, Hiroyuki Morino, Akio Yoshizawa, Yoshimichi Miyazaki, Hirofumi Maruyama, Nagahisa Murakami, Kei Fukada, Yuishin Izumi, Shinya Matsuura, Ryuji Kaji and Hideshi Kawakami : Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia., Journal of the Neurological Sciences, Vol.337, No.1-2, 219-223, 2013. (Summary) 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. (Keyword) brain / DNA Mutational Analysis / DNA-Binding Proteins / Exome / Female / Humans / magnetic resonance imaging / Middle Aged / Mutation / Myoclonic Cerebellar Dyssynergia (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jns.2013.11.032 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24332946 ● Search Scopus @ Elsevier (PMID): 24332946 ● Search Scopus @ Elsevier (DOI): 10.1016/j.jns.2013.11.032 (DOI: 10.1016/j.jns.2013.11.032, PubMed: 24332946)
124.	Koji Fujita, Naoko Matsui, Yukitoshi Takahashi, Yasushi Iwasaki, Mari Yoshida, Tatsuhiko Yuasa, Yuishin Izumi and Ryuji Kaji : Increased interleukin-17 in the cerebrospinal fluid in sporadic Creutzfeldt-Jakob disease: a case-control study of rapidly progressive dementia, Journal of Neuroinflammation, Vol.10, 135, 2013. (Summary) 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. (Keyword) Aged / Case-Control Studies / Creutzfeldt-Jakob Syndrome / Dementia / Disease Progression / Female / Humans / Interleukin-17 / Male (Link to Publication Site) ● Publication site (DOI): 10.1186/1742-2094-10-135 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24219883 ● Search Scopus @ Elsevier (PMID): 24219883 ● Search Scopus @ Elsevier (DOI): 10.1186/1742-2094-10-135 (DOI: 10.1186/1742-2094-10-135, PubMed: 24219883)
125.	Yuka Terasawa, Yusuke Osaki, Toshitaka Kawarai, Tatsurou Sugimoto, Antonio Orlacchio, Takashi Abe, Yuishin Izumi and Ryuji Kaji : Increasing and persistent DWI changes in a patient with Hereditary Diffuse Leukoencephalopathy with Spheroids., Journal of the Neurological Sciences, 2013. (Summary) 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. (Keyword) Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS) / Diffusion-weighted imaging (DWI) / colony stimulating factor 1 receptor (CSF1R) (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jns.2013.08.027 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24094860 ● Search Scopus @ Elsevier (PMID): 24094860 ● Search Scopus @ Elsevier (DOI): 10.1016/j.jns.2013.08.027 (DOI: 10.1016/j.jns.2013.08.027, PubMed: 24094860)
126.	Syunya Nakane, Koji Fujita, Yoshiko Shibuta, Naoko Matsui, Masafumi Harada, Ryo Urushihara, Yoshihiko Nishida, Yuishin Izumi and Ryuji Kaji : Successful treatment of stiff person syndrome with sequential use of tacrolimus, Journal of Neurology, Neurosurgery, and Psychiatry, Vol.84, No.10, 1177-1180, 2013. (Keyword) Aged / Autoantibodies / Brain / Dose-Response Relationship, Drug / Drug Administration Schedule / Evoked Potentials, Motor / Female / Follow-Up Studies / Glutamate Decarboxylase / Humans / Immunosuppressive Agents / Magnetic Resonance Spectroscopy / Male / Middle Aged / Motor Cortex / Neurologic Examination / Stiff-Person Syndrome / Tacrolimus / Transcranial Magnetic Stimulation / gamma-Aminobutyric Acid (Link to Publication Site) ● Publication site (DOI): 10.1136/jnnp-2013-305425 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 23715915 ● Search Scopus @ Elsevier (PMID): 23715915 ● Search Scopus @ Elsevier (DOI): 10.1136/jnnp-2013-305425 (DOI: 10.1136/jnnp-2013-305425, PubMed: 23715915)
127.	Satoshi Goto, Toshitaka Kawarai, Ryoma Morigaki, Shinya Okita, Hidetaka Koizumi, Shinji Nagahiro, L Edwin Munoz, V Lillian Lee and Ryuji Kaji : Defects in the striatal neuropeptide Y system in X-linked dystonia-parkinsonism., Brain, Vol.136, No.Pt 5, 1555-1567, 2013. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1093/brain/awt084 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 23599389 ● Search Scopus @ Elsevier (PMID): 23599389 ● Search Scopus @ Elsevier (DOI): 10.1093/brain/awt084 (DOI: 10.1093/brain/awt084, PubMed: 23599389)
128.	Naomi Morita, Masafumi Harada, Junichiro Satomi, Yuka Terasawa, Ryuji Kaji and Shinji Nagahiro : Frequency of emerging positive diffusion-weighted imaging in early repeat examinations at least 24 h after transient ischemic attacks, Neuroradiology, Vol.55, No.4, 399-403, 2013. (Summary) 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. (Keyword) Aged / Diffusion Magnetic Resonance Imaging / Female / Humans / Incidence / Ischemic Attack, Transient / Japan / Male / Reproducibility of Results / Risk Assessment / Sensitivity and Specificity / Time Factors (Link to Publication Site) ● Publication site (DOI): 10.1007/s00234-012-1113-x (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 23229844 ● Summary page in Scopus @ Elsevier: 2-s2.0-84879685246 (DOI: 10.1007/s00234-012-1113-x, PubMed: 23229844, Elsevier: Scopus)
129.	Miyashiro Ai, Sugihara Katsunobu, Toshitaka Kawarai, Miyamoto Ryosuke, Yuishin Izumi, Morino Hiroyuki, Maruyama Hirofumi, Orlacchio Antonio, Kawakami Hideshi and Ryuji Kaji : Oromandibular dystonia associated with SCA36, Movement Disorders, Vol.28, No.4, 558-559, 2013. (Keyword) dystonia / spinocerebellar ataxia 36 / botulinum A toxin (Link to Publication Site) ● Publication site (DOI): 10.1002/mds.25304 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 23390045 ● Summary page in Scopus @ Elsevier: 2-s2.0-84876101146 (DOI: 10.1002/mds.25304, PubMed: 23390045, Elsevier: Scopus)
130.	Toshitaka Kawarai, Pasco Matthew D. Paul, Teleg A. Rosalia, Masaki Kamada, Sakai Waka, Komei Shimozono, Makoto Mizuguchi, Tabuena Daisy, Orlacchio Antonio, Yuishin Izumi, Satoshi Goto, Lee V. Lillian and Ryuji Kaji : Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia-parkinsonism, Neurogenetics, Vol.14, No.2, 167-169, 2013. (Keyword) dystonia / genetic testing / long-range PCR (Link to Publication Site) ● Publication site (DOI): 10.1007/s10048-013-0357-x (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 23435702 ● Search Scopus @ Elsevier (PMID): 23435702 ● Search Scopus @ Elsevier (DOI): 10.1007/s10048-013-0357-x (DOI: 10.1007/s10048-013-0357-x, PubMed: 23435702)
131.	Yukio Yamamura, Ryoma Morigaki, Jiro Kasahara, Hironori Yokoyama, Akie Tanabe, Shinya Ohkita, Hidetaka Koizumi, Shinji Nagahiro, Ryuji Kaji and Satoshi Goto : Dopamine signaling negatively regulates striatal phosphorylation of Cdk5 at tyrosine 15 in mice, Frontiers in Cellular Neuroscience, Vol.7, No.12, 1-10, 2013. (Summary) 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. (Tokushima University Institutional Repository) ● Metadata: 114613 (Link to Publication Site) ● Publication site (DOI): 10.3389/fncel.2013.00012 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 23420105 ● Search Scopus @ Elsevier (PMID): 23420105 ● Search Scopus @ Elsevier (DOI): 10.3389/fncel.2013.00012 (Tokushima University Institutional Repository: 114613, DOI: 10.3389/fncel.2013.00012, PubMed: 23420105)
132.	Koji Fujita, W Sakai, Masafumi Harada, Mika Sakaki, Hideo Mure, Shinji Nagahiro, Yuishin Izumi and Ryuji Kaji : Basal ganglia hyperintensity on T1-weighted imaging of a patient with central nervous system metastasis producing carcinoembryonic antigens, Internal Medicine, Vol.52, No.3, 381-383, 2013. (Summary) 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. (Keyword) Adenocarcinoma / Basal Ganglia / Brain Neoplasms / Carcinoembryonic Antigen / Female / Humans / Lung Neoplasms / Magnetic Resonance Imaging / Middle Aged (Link to Publication Site) ● Publication site (DOI): 10.2169/internalmedicine.52.8835 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 23370750 ● Summary page in Scopus @ Elsevier: 2-s2.0-84873503009 (DOI: 10.2169/internalmedicine.52.8835, PubMed: 23370750, Elsevier: Scopus)
133.	Naoko Matsui, Ai Miyashiro, Yoshimitsu Shimatani, Hiroyuki Nodera, Yuishin Izumi, Satoshi Kuwabara, Masayuki Baba, Tetsuo Komori, Masahiro Sonoo, Takahiro Mezaki, Jun Kawamata, Takefumi Hitomi, Tomihiro Imai, Nobuo Kohara, Kimiyoshi Arimura, Kokichi Arisawa, Susumu Kusunoki and Ryuji Kaji : Diagnostic spectrum of multifocal motor neuropathy, Clinical & Experimental Neuroimmunology, Vol.4, No.2, 210-215, 2013. (Link to Publication Site) ● Publication site (DOI): 10.1111/cen3.12025 (Link to Search Site for Scientific Articles) ● Search Scopus @ Elsevier (DOI): 10.1111/cen3.12025 (DOI: 10.1111/cen3.12025)
134.	Koji Fujita, Yuishin Izumi, Masafumi Harada and Ryuji Kaji : Crossed cerebellar hyperperfusion without restricted diffusion in status epilepticus., Journal of Neurology, Vol.260, No.2, 674-676, 2012. (Link to Publication Site) ● Publication site (DOI): 10.1007/s00415-012-6773-2 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 23208665 ● Search Scopus @ Elsevier (PMID): 23208665 ● Search Scopus @ Elsevier (DOI): 10.1007/s00415-012-6773-2 (DOI: 10.1007/s00415-012-6773-2, PubMed: 23208665)
135.	Yoshimichi Miyazaki, Kenta Sato, Hidetaka Koizumi, Wataru Sako, Koutaro Asanuma and Ryuji Kaji : [New medications for dystonia]., Clinical Neurology, Vol.52, No.11, 1074-1076, 2012. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.5692/clinicalneurol.52.1074 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 23196520 ● Search Scopus @ Elsevier (PMID): 23196520 ● Search Scopus @ Elsevier (DOI): 10.5692/clinicalneurol.52.1074 (DOI: 10.5692/clinicalneurol.52.1074, PubMed: 23196520)
136.	Norio Akaike, Min-Chul Shin, Masahito Wakita, Yasushi Torii, Tetsuhiro Harakawa, Akihiro Ginnaga, Keiko Kato, Ryuji Kaji and Shunji Kozaki : Transsynaptic inhibition of spinal transmission by A2 botulinum toxin., The Journal of Physiology, Vol.591, No.Pt 4, 1031-1043, 2012. (Summary) 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. (Keyword) Animals / Botulinum Antitoxin / Botulinum Toxins, Type A / Colchicine / Electric Stimulation / Female / Inhibitory Postsynaptic Potentials / Isometric Contraction / Male / Mice / Mice, Inbred ICR / Muscle, Skeletal / Neurons / Rats / Rats, Wistar / Substantia Gelatinosa / Tibial Nerve (Link to Publication Site) ● Publication site (DOI): 10.1113/jphysiol.2012.242131 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 23109108 ● Search Scopus @ Elsevier (PMID): 23109108 ● Search Scopus @ Elsevier (DOI): 10.1113/jphysiol.2012.242131 (DOI: 10.1113/jphysiol.2012.242131, PubMed: 23109108)
137.	Hiroyuki Ishiura, Wataru Sako, Mari Yoshida, Toshitaka Kawarai, Osamu Tanabe, Jun Goto, Yuji Takahashi, Hidetoshi Date, Jun Mitsui, Budrul Ahsan, Yaeko Ichikawa, Atsushi Iwata, Hiide Yoshino, Yuishin Izumi, Koji Fujita, Kouji Maeda, Satoshi Goto, Hidetaka Koizumi, Ryoma Morigaki, Masako Ikemura, Naoko Yamauchi, Shigeo Murayama, A Garth Nicholson, Hidefumi Ito, Gen Sobue, Masanori Nakagawa, Ryuji Kaji and Shoji Tsuji : The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement., American Journal of Human Genetics, Vol.91, No.2, 320-329, 2012. (Summary) 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. (Keyword) Base Sequence / Chromosomes, Human, Pair 3 / DNA-Binding Proteins / Exome / Genetic Linkage / Genetic Predisposition to Disease / Golgi Apparatus / Haplotypes / Hereditary Sensory and Motor Neuropathy / Humans / Inclusion Bodies / Japan / Molecular Sequence Data / Motor Neurons / Pedigree / Point Mutation / Polymorphism, Single Nucleotide / Proteins / Sequence Analysis, DNA (Link to Publication Site) ● Publication site (DOI): 10.1016/j.ajhg.2012.07.014 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22883144 ● Search Scopus @ Elsevier (PMID): 22883144 ● Search Scopus @ Elsevier (DOI): 10.1016/j.ajhg.2012.07.014 (DOI: 10.1016/j.ajhg.2012.07.014, PubMed: 22883144)
138.	Ryosuke Miyamoto, Etsuro Ohta, Toshitaka Kawarai, Hidetaka Koizumi, Wataru Sako, Yuishin Izumi, Fumiya Obata and Ryuji Kaji : 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., Movement Disorders, Vol.27, No.10, 1324-1325, 2012. (Keyword) dystonia / DYT6 / Deep Brain Stimulation / DNA mutation / genotype-phenotype correlations (Link to Publication Site) ● Publication site (DOI): 10.1002/mds.25106 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22821615 ● Summary page in Scopus @ Elsevier: 2-s2.0-84866267286 (DOI: 10.1002/mds.25106, PubMed: 22821615, Elsevier: Scopus)
139.	Koji Fujita, Tatsuhiko Yuasa, Yukitoshi Takahashi, Keiko Tanaka, Wataru Sako, Hidetaka Koizumi, Yasushi Iwasaki, Mari Yoshida, Yuishin Izumi and Ryuji Kaji : Antibodies to N-methyl-D-aspartate glutamate receptors in Creutzfeldt-Jakob disease patients., Journal of Neuroimmunology, Vol.251, No.1-2, 90-93, 2012. (Summary) 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. (Keyword) Aged / Aged, 80 and over / Animals / Autoantibodies / Creutzfeldt-Jakob Syndrome / female / Hippocampus / Humans / Limbic Encephalitis / male / Middle Aged / Rats / Receptors, N-Methyl-D-Aspartate (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jneuroim.2012.06.010 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22809875 ● Summary page in Scopus @ Elsevier: 2-s2.0-84865619727 (DOI: 10.1016/j.jneuroim.2012.06.010, PubMed: 22809875, Elsevier: Scopus)
140.	Kotaro Ogaki, Yuanzhe Li, Naoki Atsuta, Hiroyuki Tomiyama, Manabu Funayama, Hazuki Watanabe, Ryoichi Nakamura, Hideo Yoshino, Seiji Yato, Asako Tamura, Yutaka Naito, Akira Taniguchi, Koji Fujita, Yuishin Izumi, Ryuji Kaji, Nobutaka Hattori and Gen Sobue : Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis., Neurobiology of Aging, Vol.33, No.10, 2527.e11-6, 2012. (Summary) 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. (Keyword) Adult / Age of Onset / Aged / Aged, 80 and over / Amyotrophic Lateral Sclerosis / Asian Continental Ancestry Group / DNA Repeat Expansion / Female / Gene Frequency / Haplotypes / Humans / Male / Middle Aged / Mutation / Neuropsychological Tests / Penetrance / Polymorphism, Single Nucleotide / Proteins (Link to Publication Site) ● Publication site (DOI): 10.1016/j.neurobiolaging.2012.05.011 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22727276 ● Search Scopus @ Elsevier (PMID): 22727276 ● Search Scopus @ Elsevier (DOI): 10.1016/j.neurobiolaging.2012.05.011 (DOI: 10.1016/j.neurobiolaging.2012.05.011, PubMed: 22727276)
141.	Ryosuke Miyamoto, Satoshi Goto, Wataru Sako, Ai Miyashiro, Isabelle Kim, Fabienne Escande, Masafumi Harada, Ryoma Morigaki, Koutaro Asanuma, Yoshifumi Mizobuchi, Shinji Nagahiro, Yuishin Izumi and Ryuji Kaji : Generalized dystonia in a patient with a novel mutation in the GLUD1 gene, Movement Disorders, Vol.27, No.9, 1198-1199, 2012. (Keyword) Adolescent / Deep Brain Stimulation / Dystonic Disorders / Electroencephalography / Epilepsy, Tonic-Clonic / Female / Glutamate Dehydrogenase / Humans / Hyperinsulinism / Mutation / Polymerase Chain Reaction (Link to Publication Site) ● Publication site (DOI): 10.1002/mds.25081 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22730017 ● Summary page in Scopus @ Elsevier: 2-s2.0-84864777670 (DOI: 10.1002/mds.25081, PubMed: 22730017, Elsevier: Scopus)
142.	Yuka Terasawa, Koji Fujita, Yuishin Izumi and Ryuji Kaji : Early detection of familial Creutzfeldt-Jakob disease on diffusion-weighted imaging before symptom onset., Journal of the Neurological Sciences, Vol.319, No.1-2, 130-132, 2012. (Summary) 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. (Keyword) Aged / Brain / Creutzfeldt-Jakob Syndrome / Diffusion Magnetic Resonance Imaging / Disease Progression / Early Diagnosis / Female / Headache / Humans / Nausea (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jns.2012.04.004 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22640903 ● Search Scopus @ Elsevier (PMID): 22640903 ● Search Scopus @ Elsevier (DOI): 10.1016/j.jns.2012.04.004 (DOI: 10.1016/j.jns.2012.04.004, PubMed: 22640903)
143.	Koji Fujita, Tatsuhiko Yuasa, Osamu Watanabe, Yukitoshi Takahashi, Shuji Hashiguchi, Katsuhito Adachi, Yuishin Izumi and Ryuji Kaji : Voltage-gated potassium channel complex antibodies in Creutzfeldt-Jakob disease., Journal of Neurology, Vol.259, No.10, 2249-2250, 2012. (Keyword) Autoantibodies / Autoantigens / Creutzfeldt-Jakob Syndrome / Humans / male / Middle Aged / Potassium Channels, Voltage-Gated (Link to Publication Site) ● Publication site (DOI): 10.1007/s00415-012-6554-y (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22638567 ● Search Scopus @ Elsevier (PMID): 22638567 ● Search Scopus @ Elsevier (DOI): 10.1007/s00415-012-6554-y (DOI: 10.1007/s00415-012-6554-y, PubMed: 22638567)
144.	Yoshimichi Miyazaki, Wataru Sako, Koutaro Asanuma, Yuishin Izumi, T Miki and Ryuji Kaji : Efficacy of zolpidem for dystonia: a study among different subtypes, Frontiers in Neurology, Vol.3, No.58, 2012. (Summary) 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. (Tokushima University Institutional Repository) ● Metadata: 114906 (Link to Publication Site) ● Publication site (DOI): 10.3389/fneur.2012.00058 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22529836 ● Summary page in Scopus @ Elsevier: 2-s2.0-84865851195 (Tokushima University Institutional Repository: 114906, DOI: 10.3389/fneur.2012.00058, PubMed: 22529836, Elsevier: Scopus)
145.	Yukiko Kuroda, Wataru Sako, Satoshi Goto, Tomoyo Sawada, Daisuke Uchida, Yuishin Izumi, Tetsuya Takahashi, Noriko Kagawa, Masayasu Matsumoto, Mitsuru Matsumoto, Ryosuke Takahashi, Ryuji Kaji and Takao Mitsui : Parkin interacts with Klokin1 for mitochondrial import and maintenance of membrane potential, Human Molecular Genetics, Vol.21, No.5, 991-1003, 2012. (Summary) 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. (Keyword) Amino Acid Sequence / Animals / Base Sequence / Brain / COS Cells / Carbonyl Cyanide m-Chlorophenyl Hydrazone / Cell Proliferation / Cell Survival / Cercopithecus aethiops / HeLa Cells / Humans / Membrane Potential, Mitochondrial / Mice / Mitochondria / Molecular Sequence Data / N-Acetylgalactosaminyltransferases / Protein Isoforms / Ubiquitin-Protein Ligases (Link to Publication Site) ● Publication site (DOI): 10.1093/hmg/ddr530 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22082830 ● Summary page in Scopus @ Elsevier: 2-s2.0-84863059295 (DOI: 10.1093/hmg/ddr530, PubMed: 22082830, Elsevier: Scopus)
146.	Masato Obayashi, Kinya Ishikawa, Yuishin Izumi, Makoto Takahashi, Yusuke Niimi, Nozomu Sato, Osamu Onodera, Ryuji Kaji, Masatoyo Nishizawa and Hidehiro Mizusawa : 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., Journal of Human Genetics, Vol.57, No.3, 202-206, 2012. (Summary) 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. (Keyword) Gene Deletion / Gene Dosage / Gene Order / Heterozygote / Humans / Inositol 1,4,5-Trisphosphate Receptors / Japan / Prevalence / Spinocerebellar Ataxias (Link to Publication Site) ● Publication site (DOI): 10.1038/jhg.2012.5 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22318346 ● Summary page in Scopus @ Elsevier: 2-s2.0-84858952386 (DOI: 10.1038/jhg.2012.5, PubMed: 22318346, Elsevier: Scopus)
147.	Koji Fujita, Masafumi Harada, Makoto Sasaki, Tatsuhiko Yuasa, Kenji Sakai, Tsuyoshi Hamaguchi, Nobuo Sanjo, Yusei Shiga, Katsuya Satoh, Ryuichiro Atarashi, Susumu Shirabe, Ken Nagata, Tetsuya Maeda, Shigeo Murayama, Yuishin Izumi, Ryuji Kaji, Masahito Yamada and Hidehiro Mizusawa : 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., BMJ Open, Vol.2, No.1, 649, 2012. (Summary) 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. (Tokushima University Institutional Repository) ● Metadata: 114896 (Link to Publication Site) ● Publication site (DOI): 10.1136/bmjopen-2011-000649 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22290397 ● Search Scopus @ Elsevier (PMID): 22290397 ● Search Scopus @ Elsevier (DOI): 10.1136/bmjopen-2011-000649 (Tokushima University Institutional Repository: 114896, DOI: 10.1136/bmjopen-2011-000649, PubMed: 22290397)
148.	Ryuji Kaji, Yishin Izumi, Yoshiki Adachi and Shigeki Kuzuhara : ALS-parkinsonism-dementia complex of Kii and other related diseases in Japan., Parkinsonism & Related Disorders, Vol.18 Suppl 1, No.1, S190-1, 2012. (Summary) 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. (Keyword) Adult / Amyotrophic Lateral Sclerosis / Animals / Dementia / Humans / Japan / Male / Mutation / Neurofibrillary Tangles / Parkinsonian Disorders (Link to Publication Site) ● Publication site (DOI): 10.1016/S1353-8020(11)70059-1 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22166431 ● Search Scopus @ Elsevier (PMID): 22166431 ● Search Scopus @ Elsevier (DOI): 10.1016/S1353-8020(11)70059-1 (DOI: 10.1016/S1353-8020(11)70059-1, PubMed: 22166431)
149.	S Okita, Ryoma Morigaki, H Koizumi, Ryuji Kaji, Shinji Nagahiro and Satoshi Goto : Cell type-specific localization of optineurin in the striatal neurons of mice: Implications for neuronal vulnerability in huntington's disease, Neuroscience, Vol.202, No.27, 363-370, 2012. (Summary) 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. (Keyword) Animals / Blotting, Western / cell death / Corpus Striatum / Densitometry / Eye Proteins / Glutamic Acid / Huntington Disease / Image Processing, Computer-Assisted / immunohistochemistry / Interneurons / Male / Mice / Mice, Inbred C57BL / Mice, Transgenic / Mutation / Neurons / Serotonin Plasma Membrane Transport Proteins (Tokushima University Institutional Repository) ● Metadata: 116978 (Link to Publication Site) ● Publication site (DOI): 10.1016/j.neuroscience.2011.11.059 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22155493 ● Search Scopus @ Elsevier (PMID): 22155493 ● Search Scopus @ Elsevier (DOI): 10.1016/j.neuroscience.2011.11.059 (Tokushima University Institutional Repository: 116978, DOI: 10.1016/j.neuroscience.2011.11.059, PubMed: 22155493)
150.	Ryoma Morigaki, Toshitaka Kawarai, Masahito Nakataki, Junichi Iga, Wataru Sako, Yoshifumi Mizobuchi, Shinji Nagahiro, Satoshi Goto and Ryuji Kaji : Clinical characteristics of X-linked dystonia-parkinsonism, Functional Neurosurgery, Vol.50, 150-153, 2011. (Keyword) X-linked dystonia parkinsonism / DYT3 / Clinical symptoms / Adaptibity of daily life / Striatal compartments (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1571135651154880768 (CiNii: 1571135651154880768)
151.	Koji Fujita, Tatsuhiko Yuasa, Yukitoshi Takahashi, Keiko Tanaka, Shuji Hashiguchi, Katsuhito Adachi, Yuishin Izumi and Ryuji Kaji : Detection of anti-glutamate receptor 2 and anti-N-methyl-D: -aspartate receptor antibodies in a patient with sporadic Creutzfeldt-Jakob disease., Journal of Neurology, Vol.259, No.5, 985-988, 2011. (Link to Publication Site) ● Publication site (DOI): 10.1007/s00415-011-6291-7 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22057403 ● Search Scopus @ Elsevier (PMID): 22057403 ● Search Scopus @ Elsevier (DOI): 10.1007/s00415-011-6291-7 (DOI: 10.1007/s00415-011-6291-7, PubMed: 22057403)
152.	Wataru Sako, Hidefumi Ito, Mari Yoshida, Hidetaka Koizumi, Masaki Kamada, Koji Fujita, Yoshio Hashizume, Yuishin Izumi and Ryuji Kaji : Nuclear factor B expression in patients with sporadic amyotrophic lateral sclerosis and hereditary amyotrophic lateral sclerosis with optineurin mutations, Clinical Neuropathology, Vol.31, No.6, 418-423, 2011. (Summary) 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. (Keyword) Aged / Aged, 80 and over / Amyotrophic Lateral Sclerosis / Blotting, Western / Female / Humans / immunohistochemistry / Male / Middle Aged / NF-kappa B / spinal cord / Transcription Factor TFIIIA (Link to Publication Site) ● Publication site (DOI): 10.5414/NP300493 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22762947 ● Summary page in Scopus @ Elsevier: 2-s2.0-84871831437 (DOI: 10.5414/NP300493, PubMed: 22762947, Elsevier: Scopus)
153.	Ryoma Morigaki, Wataru Sako, Shinya Okita, Jiro Kasahara, Hironori Yokoyama, Shinji Nagahiro, Ryuji Kaji and Satoshi Goto : Cyclin-dependent kinase 5 with phosphorylation of tyrosine 15 residue is enriched in striatal matrix compartment in adult mice, Neuroscience, Vol.189, 25-31, 2011. (Summary) 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. (Keyword) Animals / Corpus Striatum / Cyclin-Dependent Kinase 5 / immunohistochemistry / Mice / phosphorylation / Tyrosine (Link to Publication Site) ● Publication site (DOI): 10.1016/j.neuroscience.2011.05.055 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 21640796 ● Summary page in Scopus @ Elsevier: 2-s2.0-79960905477 (DOI: 10.1016/j.neuroscience.2011.05.055, PubMed: 21640796, Elsevier: Scopus)
154.	Wataru Sako, Ryoma Morigaki, Ryuji Kaji, Ikuo Tooyama, Shinya Okita, Keiko Kitazato, Shinji Nagahiro, M Ann Graybiel and Satoshi Goto : Identification and localization of a neuron-specific isoform of TAF1 in rat brain: implications for neuropathology of DYT3 dystonia, Neuroscience, Vol.189, 100-107, 2011. (Summary) 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. (Keyword) Amino Acid Sequence / Animals / Base Sequence / brain / Corpus Striatum / Dystonia / Histone Acetyltransferases / Molecular Sequence Data / Nuclear Proteins / Protein Isoforms / Rats / Rats, Sprague-Dawley / TATA-Binding Protein Associated Factors / Transcription Factor TFIID (Link to Publication Site) ● Publication site (DOI): 10.1016/j.neuroscience.2011.05.031 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 21616129 ● Summary page in Scopus @ Elsevier: 2-s2.0-79960914214 (DOI: 10.1016/j.neuroscience.2011.05.031, PubMed: 21616129, Elsevier: Scopus)
155.	Michiharu Kashihara, Shigetaka Nakao, Jun Kawasaki, Shinjiro Takata, Shinji Nagahiro, Ryuji Kaji and Natsuo Yasui : Long-term outcome of severe stroke patients: Is the ADL status at discharge from a stroke center indicative of the long-term outcome?, The Journal of Medical Investigation : JMI, Vol.58, No.3-4, 227-234, 2011. (Summary) 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. (Keyword) Activities of Daily Living / Aged / Female / Humans / Male / Middle Aged / Patient Discharge / Retrospective Studies / Stroke (Tokushima University Institutional Repository) ● Metadata: 82890 (Link to Publication Site) ● Publication site (DOI): 10.2152/jmi.58.227 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 21921424 ● Search Scopus @ Elsevier (PMID): 21921424 ● Search Scopus @ Elsevier (DOI): 10.2152/jmi.58.227 (Tokushima University Institutional Repository: 82890, DOI: 10.2152/jmi.58.227, PubMed: 21921424)
156.	Shigetaka Nakao, Kouji Komatsu, Waka Sakai, Michiharu Kashihara, Yuki Masuda, Koji Nishikawa, Tetsuya Okahisa, Shin Kondo, Toshifumi Osawa, Ryuji Kaji, Satoshi Goto, Shinji Nagahiro, Shinjiro Takata and Natsuo Yasui : Gait and posture assessments of a patient treated with deep brain stimulation in dystonia using three-dimensional motion analysis systems., The Journal of Medical Investigation : JMI, Vol.58, No.3-4, 264-272, 2011. (Summary) 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. (Keyword) Deep Brain Stimulation / Dystonia / Gait / Humans / Male / Middle Aged / Motion / Posture (Tokushima University Institutional Repository) ● Metadata: 82888 (Link to Publication Site) ● Publication site (DOI): 10.2152/jmi.58.264 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 21921430 ● Search Scopus @ Elsevier (PMID): 21921430 ● Search Scopus @ Elsevier (DOI): 10.2152/jmi.58.264 (Tokushima University Institutional Repository: 82888, DOI: 10.2152/jmi.58.264, PubMed: 21921430)
157.	Aritoshi Iida, Atsushi Takahashi, Michiaki Kubo, Susumu Saito, Naoya Hosono, Yozo Ohnishi, Kazuma Kiyotani, Taisei Mushiroda, Masahiro Nakajima, Kouichi Ozaki, Toshihiro Tanaka, Tatsuhiko Tsunoda, Shuichi Oshima, Motoki Sano, Tetsumasa Kamei, Torao Tokuda, Masashi Aoki, Kazuko Hasegawa, Koichi Mizoguchi, Mitsuya Morita, Yuji Takahashi, Masahisa Katsuno, Naoki Atsuta, Hirohisa Watanabe, Fumiaki Tanaka, Ryuji Kaji, Imaharu Nakano, Naoyuki Kamatani, Shoji Tsuji, Gen Sobue, Yusuke Nakamura and Shiro Ikegawa : A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese., Human Molecular Genetics, Vol.20, No.18, 3684-3692, 2011. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1093/hmg/ddr268 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 21665992 ● Search Scopus @ Elsevier (PMID): 21665992 ● Search Scopus @ Elsevier (DOI): 10.1093/hmg/ddr268 (DOI: 10.1093/hmg/ddr268, PubMed: 21665992)
158.	Koji Fujita, Yoshitaka Yamaguchi, Tsuyoshi Mori, Naomi Muramatsu, Takahito Miyamoto, Masashi Yano, Hironori Miyata, Akira Ootsuyama, Makoto Sawada, Haruo Matsuda, Ryuji Kaji and Suehiro Sakaguchi : Effects of a Brain-Engraftable Microglial Cell Line Expressing Anti-Prion scFv Antibodies on Survival Times of Mice Infected with Scrapie Prions., Cellular and Molecular Neurobiology, Vol.31, No.7, 999-1008, 2011. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1007/s10571-011-9696-z (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 21516351 ● Search Scopus @ Elsevier (PMID): 21516351 ● Search Scopus @ Elsevier (DOI): 10.1007/s10571-011-9696-z (DOI: 10.1007/s10571-011-9696-z, PubMed: 21516351)
159.	Yoshimichi Miyazaki, 高松直子, Ai Miyashiro, Yuka Terasawa, Naoko Matsui, Koutaro Asanuma, Yuishin Izumi and Ryuji Kaji : A case of enlargement of the right atrium associated with myositis detected by muscle ultrasonography, Neurosonology, Vol.24, No.1, 12-14, 2011. (Summary) 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. (Keyword) Methylprednisolone(治療的利用) 病的拡張症(病因,超音波診断,薬物療法) 筋炎(合併症,超音波診断,薬物療法) 超音波診断パルス療法(薬物療法) 心房拡張(病因,超音波診断,薬物療法) ヒト中年(45~64) 女 (Link to Publication Site) ● Publication site (DOI): 10.2301/neurosonology.24.12 (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1390282679397005184 ● Search Scopus @ Elsevier (DOI): 10.2301/neurosonology.24.12 (DOI: 10.2301/neurosonology.24.12, CiNii: 1390282679397005184)
160.	Yamanaka Chihiro, Mariko Egawa, Yoshinori Mitamura, Naoko Matsui and Ryuji Kaji : Clinical features of optic neuritis positive for anti-aquaporin 4 antibody, Japanese Journal of Clinical Ophthalmology, Vol.65, No.4, 521-526, 2011. (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1521417755902852864 ● Summary page in Scopus @ Elsevier: 2-s2.0-79955804438 (CiNii: 1521417755902852864, Elsevier: Scopus)
161.	Koji Fujita, Masafumi Harada, Tatsuhiko Yuasa, Makoto Sasaki, Yuishin Izumi and Ryuji Kaji : Temporal evolution of sporadic Creutzfeldt-Jakob disease monitored by 3-Tesla MR spectroscopy., Journal of Neurology, Vol.258, No.7, 1368-1370, 2011. (Keyword) Aged / Aspartic Acid / Choline / Creutzfeldt-Jakob Syndrome / Disease Progression / female / Humans / Magnetic Resonance Spectroscopy / male (Link to Publication Site) ● Publication site (DOI): 10.1007/s00415-011-5939-7 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 21327850 ● Search Scopus @ Elsevier (PMID): 21327850 ● Search Scopus @ Elsevier (DOI): 10.1007/s00415-011-5939-7 (DOI: 10.1007/s00415-011-5939-7, PubMed: 21327850)
162.	Wataru Sako, Ryoma Morigaki, Yoshifumi Mizobuchi, Takashi Tsuzuki, Hiroyuki Ima, Y Ushio, Shinji Nagahiro, Ryuji Kaji and Satoshi Goto : Bilateral pallidal deep brain stimulation in primary Meige syndrome, Parkinsonism & Related Disorders, Vol.17, No.2, 123-125, 2011. (Summary) 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. (Keyword) Aged / Deep Brain Stimulation / Female / Globus Pallidus / Humans / Male / Meige Syndrome / Middle Aged / Treatment Outcome (Link to Publication Site) ● Publication site (DOI): 10.1016/j.parkreldis.2010.11.013 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 21147544 ● Search Scopus @ Elsevier (PMID): 21147544 ● Search Scopus @ Elsevier (DOI): 10.1016/j.parkreldis.2010.11.013 (DOI: 10.1016/j.parkreldis.2010.11.013, PubMed: 21147544)
163.	Wataru Sako, Ryoma Morigaki, 宮本亮介, Ryuji Kaji, 溝渕桂史, Shinji Nagahiro and Satoshi Goto : -dropped head syndrome, Functional Neurosurgery, Vol.50, No.2, 115-118, 2011.
164.	Wataru Sako, Ryoma Morigaki, Shinji Nagahiro, Ryuji Kaji and Satoshi Goto : Olfactory type G-protein alpha subunit in striosome-matrix dopamine systems in adult mice, Neuroscience, Vol.170, No.2, 497-502, 2010. (Summary) 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. (Keyword) Animals / Apomorphine / Corpus Striatum / Dopamine / Dopamine and cAMP-Regulated Phosphoprotein 32 / GTP-Binding Protein alpha Subunits / Mice / Neurons / Receptors, Dopamine D1 / Receptors, Opioid, mu / Signal Transduction / Tyrosine 3-Monooxygenase (Link to Publication Site) ● Publication site (DOI): 10.1016/j.neuroscience.2010.06.072 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 20603191 ● Summary page in Scopus @ Elsevier: 2-s2.0-77956189821 (DOI: 10.1016/j.neuroscience.2010.06.072, PubMed: 20603191, Elsevier: Scopus)
165.	Wataru Sako, Nagako Murase, Yoshifumi Mizobuchi, Ryoma Morigaki, Kazuhito Matsuzaki, Shinji Nagahiro, Ryuji Kaji and Satoshi Goto : Bilateral pallidal stimulation in Meige syndrome, Functional Neurosurgery, Vol.49, No.1, 94-95, 2010. (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1571417124978153088 (CiNii: 1571417124978153088)
166.	Masafumi Harada, Naomi Morita, Masaaki Uno, Junichiro Satomi, Yuishin Izumi, Koutaro Asanuma, Hiromu Nishitani, Ryuji Kaji and Shinji Nagahiro : Incidence and clinical correlation of intracranial hemorrhages observed by 3-tesla gradient echo T2-weighted images following intravenous thrombolysis with recombinant tissue plasminogen activator, Cerebrovascular Diseases, Vol.29, No.6, 571-575, 2010. (Summary) 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. (Keyword) Acute Disease / Aged / Brain / Brain Ischemia / Cerebral Hemorrhage / Diffusion Magnetic Resonance Imaging / Echo-Planar Imaging / Female / Humans / Image Processing, Computer-Assisted / Injections, Intravenous / Male / Middle Aged / Recombinant Proteins / Stroke / Thrombolytic Therapy / Tissue Plasminogen Activator (Link to Publication Site) ● Publication site (DOI): 10.1159/000306644 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 20375500 ● Search Scopus @ Elsevier (PMID): 20375500 ● Search Scopus @ Elsevier (DOI): 10.1159/000306644 (DOI: 10.1159/000306644, PubMed: 20375500)
167.	Naoko Matsui, Shunya Nakane, Fumi Saitou, Izumi Ohigashi, Yasushi Nakagawa, Hirotsugu Kurobe, Hiromitsu Takizawa, Takao Mitsui, Kazuya Kondo, Tetsuya Kitagawa, Yousuke Takahama and Ryuji Kaji : Undiminished regulatory T cells in the thymus of myathenia gravis patients, Neurology, Vol.74, No.10, 816-820, 2010. (Summary) 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. (Keyword) Age Factors / Antigens, CD / Cell Count / Female / Flow Cytometry / Forkhead Transcription Factors / Humans / Male / Myasthenia Gravis / T-Lymphocytes, Regulatory / Thymus Gland (Link to Publication Site) ● Publication site (DOI): 10.1212/WNL.0b013e3181d31e47 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 20211905 ● Search Scopus @ Elsevier (PMID): 20211905 ● Search Scopus @ Elsevier (DOI): 10.1212/WNL.0b013e3181d31e47 (DOI: 10.1212/WNL.0b013e3181d31e47, PubMed: 20211905)
168.	Takashi Sakai, Li Liu, Xichuan Teng, Naozumi Ishimaru, Rika Mukai-Sakai, HoangNam Tran, Sun Mi Kim, Nobuya Sano, Yoshio Hayashi, Ryuji Kaji and Kiyoshi Fukui : Inflammatory disease and cancer with a decrease in Kupffer cell numbers in Nucling-knockout mice., International Journal of Cancer, Vol.126, No.5, 1079-1094, 2010. (Summary) 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. (Keyword) Animals / apoptosis / Blotting, Western / carbon tetrachloride / Carcinogens / Carcinoma, Hepatocellular / Electrophoretic Mobility Shift Assay / Flow Cytometry / Hepatitis / immunohistochemistry / inflammation / Kupffer Cells / Liver Neoplasms / Membrane Proteins / Mice / knockout mice / NF-kappa B / Precancerous Conditions / Reverse Transcriptase Polymerase Chain Reaction / Signal Transduction / Tumor Necrosis Factor-alpha (Link to Publication Site) ● Publication site (DOI): 10.1002/ijc.24789 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 19637241 ● Summary page in Scopus @ Elsevier: 2-s2.0-74049095937 (DOI: 10.1002/ijc.24789, PubMed: 19637241, Elsevier: Scopus)
169.	Shigetaka Nakao, Shinjiro Takata, Hirokazu Uemura, Michiharu Kashihara, Toshifumi Osawa, Koji Komatsu, Yuki Masuda, Tetsuya Okahisa, Koji Noshikawa, Shin Kondo, Megumi Yamada, Risa Takahara, Yoshimi Ogata, Yuka Nakamura, Sinji Nagahiro, Ryuji Kaji and Natsuo Yasui : Relationship between Barthel Index scores during the acute phase of rehabilitation and subsequent ADL in stroke patients., The Journal of Medical Investigation : JMI, Vol.57, No.1-2, 81-88, 2010. (Summary) 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. (Keyword) Activities of Daily Living / Acute Disease / Aged / Female / Geriatric Assessment / Humans / Male / Middle Aged / Severity of Illness Index / Stroke (Tokushima University Institutional Repository) ● Metadata: 76612 (Link to Publication Site) ● Publication site (DOI): 10.2152/jmi.57.81 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 20299746 ● Search Scopus @ Elsevier (PMID): 20299746 ● Search Scopus @ Elsevier (DOI): 10.2152/jmi.57.81 (Tokushima University Institutional Repository: 76612, DOI: 10.2152/jmi.57.81, PubMed: 20299746)
170.	Haruo Uguisu, Ryo Urushihara, Yuki Hosono, Koutaro Asanuma, Hideki Shimazu, Nagako Murase and Ryuji Kaji : Very low-frequency rTMS modulates SEPs over the contralateral hemisphere., The Journal of Medical Investigation : JMI, Vol.57, No.1-2, 109-113, 2010. (Summary) 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. (Keyword) adult education administration / Evoked Potentials, Somatosensory / Humans / Male / Motor Cortex / Transcranial Magnetic Stimulation (Tokushima University Institutional Repository) ● Metadata: 68054 (Link to Publication Site) ● Publication site (DOI): 10.2152/jmi.57.109 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 20299749 ● Search Scopus @ Elsevier (PMID): 20299749 ● Search Scopus @ Elsevier (DOI): 10.2152/jmi.57.109 (Tokushima University Institutional Repository: 68054, DOI: 10.2152/jmi.57.109, PubMed: 20299749)
171.	Naoko Matsui, Yuishin Izumi, Hiroyuki Azuma and Ryuji Kaji : Neurological manifestations in hereditary hemorrhagic telangiectasia type 1: a familial case in Japan, Journal of Tokushima National Hospital, Vol.2010, No.1, 11-14, 2010. (Keyword) Hereditary hemorrhagic telangiectasia (HHT) / HHT type 1 (HHT1) / endoglin / pulmonary arteriovenous malformations (PAVMs) / cerebroarteriovenous malformations (CAVMs) (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1523106605998613120 (CiNii: 1523106605998613120)
172.	Yoshimichi Miyazaki, 向井洋平, Koutaro Asanuma, Yuishin Izumi and Ryuji Kaji : 脳死様状態を呈したGuillain-Barre症候群の1例, Clinical Electroencephalography, Vol.52, No.2, 123-125, 2010. (Summary) 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) (Keyword) Immunoglobulins(治療的利用) アルファリズム活動電位血漿交換脳死(病因,診断,治療) 脳幹聴覚誘発電位 Guillain-Barre症候群(合併症,診断,治療) 絞扼反射閉じ込め症候群(病因,診断,治療) 神経伝導速度ヒト高齢者(65~79) 男 (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1521417755873818112 (CiNii: 1521417755873818112)
173.	Yoshimichi Miyazaki, Ai Miyashiro, Yoshimitsu Simatani, Naoko Matsui, Koutaro Asanuma, Yuishin Izumi and Ryuji Kaji : A case of cryptococcal meningitis successfully treated with liposomal amphotericin-B, Fulcytosine, and Voriconazole, Journal of Tokushima National Hospital, Vol.1, 31-34, 2010. (Summary) 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． (Keyword) Amphotericin B(治療的利用,毒性・副作用) Flucytosine(治療的利用) Gadolinium(診断的利用) 真菌抗原(血液) MRI 多剤併用療法低カリウム血症(化学的誘発) 髄液髄膜炎-クリプトコッカス(薬物療法) Voriconazole(治療的利用) 髄液検査ヒト中年(45~64) 男 (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1523951030929400320 (CiNii: 1523951030929400320)
174.	Naoko Matsui, S Nakane, Y Nakagawa, Kazuya Kondo, T Mitsui, T Matsumoto, Kokichi Arisawa and Ryuji Kaji : Increasing incidence of elderly onset patients with myasthenia gravis in a local area of Japan, Journal of Neurology, Neurosurgery, and Psychiatry, Vol.80, No.10, 1168-1171, 2009. (Summary) 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. (Keyword) Adult / Age Distribution / Age of Onset / Aged / Asian Continental Ancestry Group / Catchment Area (Health) / Cohort Studies / Female / Hospitals, University / Humans / Incidence / Japan / Male / Middle Aged / Myasthenia Gravis / Retrospective Studies / Sex Distribution (Link to Publication Site) ● Publication site (DOI): 10.1136/jnnp.2008.152637 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 19762910 ● Search Scopus @ Elsevier (PMID): 19762910 ● Search Scopus @ Elsevier (DOI): 10.1136/jnnp.2008.152637 (DOI: 10.1136/jnnp.2008.152637, PubMed: 19762910)
175.	Wataru Sako, Masanori Nishioka, Tomoyuki Maruo, Hideki Shimazu, Kazuhito Matsuzaki, Tetsuya Tamura, Hideo Mure, Yukitaka Ushio, Shinji Nagahiro, Ryuji Kaji and Satoshi Goto : Subthalamic nucleus deep brain stimulation for camptocormia associated with Parkinson's disease, Movement Disorders, Vol.24, No.7, 1076-1079, 2009. (Summary) 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. (Keyword) Adult / Deep Brain Stimulation / Female / Humans / Male / Middle Aged / Parkinson's disease / Postural Balance / Spinal Diseases / Subthalamic Nucleus (Link to Publication Site) ● Publication site (DOI): 10.1002/mds.22529 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 19353719 ● Summary page in Scopus @ Elsevier: 2-s2.0-67651156100 (DOI: 10.1002/mds.22529, PubMed: 19353719, Elsevier: Scopus)
176.	Li Liu, Takashi Sakai, HoangNam Tran, Rika Mukai-Sakai, Ryuji Kaji and Kiyoshi Fukui : Nucling interacts with nuclear factor-B, regulating its cellular distribution, The FEBS Journal, Vol.276, No.5, 1459-1470, 2009. (Summary) 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. (Keyword) IκBα / nuclear factor κB / nuclear translocation / nucling / tumor necrosis factor-α (Link to Publication Site) ● Publication site (DOI): 10.1111/j.1742-4658.2009.06888.x (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 19187222 ● Summary page in Scopus @ Elsevier: 2-s2.0-60349104730 (DOI: 10.1111/j.1742-4658.2009.06888.x, PubMed: 19187222, Elsevier: Scopus)
177.	佐光亘, Hideki Shimazu, Kazuhito Matsuzaki, Shinji Nagahiro, Nagako Murase, Ryuji Kaji and Satoshi Goto : Bilateral pallidal stimulation for dropped head syndrome in tardive dystonia, Functional Neurosurgery, Vol.47, No.2, 111-113, 2008. (Keyword) Tardive dystonia / Neuroleptics / Dropped head syndrome / Bilateral pallidal stimulation (GPi-DBS) / 深部脳刺激術 (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1571698599954730496 (CiNii: 1571698599954730496)
178.	Wataru Sako, Satoshi Goto, Hideki Shimazu, Nagako Murase, Kazuhito Matsuzaki, Tetsuya Tamura, Hideo Mure, Yusuke Tomogane, Noriko Arita, Hiroo Yoshikawa, Shinji Nagahiro and Ryuji Kaji : Bilateral deep brain stimulation of the globus pallidus internus in tardive dystonia, Movement Disorders, Vol.23, No.13, 1929-1931, 2008. (Summary) 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. (Keyword) Adult / Biophysics / Deep Brain Stimulation / Dystonia / Female / Globus Pallidus / Humans / Male / Middle Aged / Treatment Outcome (Link to Publication Site) ● Publication site (DOI): 10.1002/mds.22100 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 18785227 ● Search Scopus @ Elsevier (PMID): 18785227 ● Search Scopus @ Elsevier (DOI): 10.1002/mds.22100 (DOI: 10.1002/mds.22100, PubMed: 18785227)
179.	Kenta Sato, Chiho Sumi-Ichinose, Ryuji Kaji, Kazuhisa Ikemoto, Takahide Nomura, Ikuko Nagatsu, Hiroshi Ichinose, Masayuki Ito, Wataru Sako, Shinji Nagahiro, Ann M. Graybiel and Satoshi Goto : Differential involvement of striosome and matrix dopamine systems in a transgenic model of dopa-responsive dystonia, Proceedings of the National Academy of Sciences of the United States of America, Vol.105, No.34, 12551-12556, 2008. (Summary) 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. (Keyword) Age Factors / Animals / Corpus Striatum / Disease Models, Animal / dopamine / Dystonic Disorders / Humans / Levodopa / Metabolic Networks and Pathways / Mice / Mice, Transgenic / Motor Skills Disorders / Phosphorus-Oxygen Lyases / Tyrosine 3-Monooxygenase (Link to Publication Site) ● Publication site (DOI): 10.1073/pnas.0806065105 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 18713855 ● Search Scopus @ Elsevier (PMID): 18713855 ● Search Scopus @ Elsevier (DOI): 10.1073/pnas.0806065105 (DOI: 10.1073/pnas.0806065105, PubMed: 18713855)
180.	Satoshi Goto, Hideki Shimazu, Kazuhito Matsuzaki, Tetsuya Tamura, Nagako Murase, Shinji Nagahiro and Ryuji Kaji : Thalamic Vo-complex vs pallidal deep brain stimulation for focal hand dystonia, Neurology, Vol.70, No.16, 1500-1501, 2008. (Keyword) Adult / Deep Brain Stimulation / Dystonic Disorders / Globus Pallidus / Hand / Humans / Male / Thalamic Nuclei (Link to Publication Site) ● Publication site (DOI): 10.1212/01.wnl.0000310430.00743.11 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 18413578 ● Search Scopus @ Elsevier (PMID): 18413578 ● Search Scopus @ Elsevier (DOI): 10.1212/01.wnl.0000310430.00743.11 (DOI: 10.1212/01.wnl.0000310430.00743.11, PubMed: 18413578)
181.	河北直也, Koji Fujita, Takao Mitsui, Yuishin Izumi, Atsuhiko Suzue, Masaaki Uno, Koichi Satoh, Shinji Nagahiro, Hirotsugu Yamada, Naomi Morita and Ryuji Kaji : 3 Tesla T2^-weighted MRI demonstrating an intra-MCA embolus in a young adult with cerebral embolism, Japanese Journal of Stroke, Vol.29, No.3, 469-473, 2007. (Keyword) cerebral embolism / 3 Tesla T2^-weighted image / patent foramen ovale / atrial septal aneurysm (Link to Publication Site) ● Publication site (DOI): 10.3995/jstroke.29.469 (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1573387451037736320 ● Search Scopus @ Elsevier (DOI): 10.3995/jstroke.29.469 (DOI: 10.3995/jstroke.29.469, CiNii: 1573387451037736320)
182.	Naoko Matsui, Shunya Nakane, Yuishin Izumi, Shinji Nagahiro, 西田善彦 and Ryuji Kaji : 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, Neurological Therapeutics, Vol.24, 497-502, 2007.
183.	Masafumi Harada, Naomi Morita, Hiromu Nishitani, Masaaki Uno, Shinji Nagahiro, Shunya Nakane, Yuishin Izumi and Ryuji Kaji : 1.5 Tesla Stroke Unit MRI: 画像診断の新展開, 分子脳血管病, Vol.6, 258-263, 2007.
184.	Satoshi Goto, K Yamada, Hideki Shimazu, Nagako Murase, Kazuhito Matsuzaki, Tetsuya Tamura, Shinji Nagahiro, J Kuratsu and Ryuji Kaji : Impact of bilateral pallidal stimulation on DYT1-generalized dystonia in Japanese patients, Movement Disorders, Vol.21, No.10, 1785-1787, 2006. (Summary) 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. (Keyword) Adolescent / Adult / Child / Chromosome Deletion / Deep Brain Stimulation / Disability Evaluation / Dominance, Cerebral / Dystonia / Electrodes, Implanted / Follow-Up Studies / Globus Pallidus / Humans / Hyperkinesis / Japan / Male / Molecular Chaperones / Trinucleotide Repeats (Link to Publication Site) ● Publication site (DOI): 10.1002/mds.21021 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 16830314 ● Search Scopus @ Elsevier (PMID): 16830314 ● Search Scopus @ Elsevier (DOI): 10.1002/mds.21021 (DOI: 10.1002/mds.21021, PubMed: 16830314)
185.	K Yamada, Satoshi Goto, Kazuhito Matsuzaki, Tetsuya Tamura, Nagako Murase, Hideki Shimazu, Shinji Nagahiro, J Kuratsu and Ryuji Kaji : Alleviation of camptocormia by bilateral subthalamic nucleus stimulation in a patient with Parkinson's disease, Parkinsonism & Related Disorders, Vol.12, No.6, 372-375, 2006. (Summary) 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. (Keyword) Aged / Antiparkinson Agents / Deep Brain Stimulation / Electrodes, Implanted / Female / Humans / Magnetic Resonance Imaging / Neurosurgical Procedures / Parkinson Disease / Spinal Diseases / Subthalamic Nucleus (Link to Publication Site) ● Publication site (DOI): 10.1016/j.parkreldis.2006.02.003 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 16731023 ● Search Scopus @ Elsevier (PMID): 16731023 ● Search Scopus @ Elsevier (DOI): 10.1016/j.parkreldis.2006.02.003 (DOI: 10.1016/j.parkreldis.2006.02.003, PubMed: 16731023)
186.	Xichuan Teng, Takashi Sakai, Li Liu, Rika Sakai, Ryuji Kaji and Kiyoshi Fukui : Attenuation of MPTP-induced neurotoxicity and locomotor dysfunction in Nucling-deficient mice via suppression of the apoptosome pathway, Journal of Neurochemistry, Vol.97, No.4, 1126-1135, 2006. (Summary) 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. (Keyword) apoptosis / apoptosome / MPTP / nucling / Parkinson's disease (Link to Publication Site) ● Publication site (DOI): 10.1111/j.1471-4159.2006.03833.x (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 16686692 ● Search Scopus @ Elsevier (PMID): 16686692 ● Search Scopus @ Elsevier (DOI): 10.1111/j.1471-4159.2006.03833.x (DOI: 10.1111/j.1471-4159.2006.03833.x, PubMed: 16686692)
187.	K Yamada, Satoshi Goto, Kazuhito Matsuzaki, Shinji Nagahiro, Nagako Murase, Hideki Shimazu, Ryuji Kaji, J Kuratsu and Y Ushio : Psychiatric symptoms and subthalamic nucleus stimulation in Parkinson's disease. A retrospective study in our Japanese patients, Neuromodulation, Vol.9, No.2, 107-114, 2006. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1111/j.1525-1403.2006.00054.x (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22151634 ● Search Scopus @ Elsevier (PMID): 22151634 ● Search Scopus @ Elsevier (DOI): 10.1111/j.1525-1403.2006.00054.x (DOI: 10.1111/j.1525-1403.2006.00054.x, PubMed: 22151634)
188.	Ryou Urushihara, Nagako Murase, C John Rothwell, Masafumi Harada, Yuki Hosono, Kotaro Asanuma, Hideki Shimazu, Kazumi Nakamura, Sachiko Chikahisa, Kazuyoshi Kitaoka, Hiroyoshi Sei, Yusuke Morita and Ryuji Kaji : Effect of repetitive transcranial magnetic stimulation applied over the premotor cortex on somatosensory-evoked potentials and regional cerebral blood flow., Neuroimage, Vol.31, No.2, 699-709, 2006. (Summary) 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. (Keyword) Adult / Brain / Brain Mapping / Cerebrovascular Circulation / Evoked Potentials, Somatosensory / Functional Laterality / Humans / Male / Motor Cortex / Regional Blood Flow / Transcranial Magnetic Stimulation (Link to Publication Site) ● Publication site (DOI): 10.1016/j.neuroimage.2005.12.027 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 16466934 ● Search Scopus @ Elsevier (PMID): 16466934 ● Search Scopus @ Elsevier (DOI): 10.1016/j.neuroimage.2005.12.027 (DOI: 10.1016/j.neuroimage.2005.12.027, PubMed: 16466934)
189.	Eiji Takeda, Junji Terao, Yutaka Nakaya, Ken-ichi Miyamoto, Yoshinobu Baba, Hiroshi Chuman, Ryuji Kaji, Tetsuro Ohmori and Kazuhito Rokutan : Stress control and human nutrition, The Journal of Medical Investigation : JMI, Vol.51, No.3-4, 139-145, 2004. (Summary) 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. (Keyword) Antioxidants / brain / Coffee / Cognition / Dietary Carbohydrates / Feeding Behavior / Humans / Hydrocortisone / Nutritional Physiological Phenomena / Serotonin / Stress, Physiological / Suicide (Tokushima University Institutional Repository) ● Metadata: 110734 (Link to Publication Site) ● Publication site (DOI): 10.2152/jmi.51.139 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 15460899 ● Summary page in Scopus @ Elsevier: 2-s2.0-7044220587 (Tokushima University Institutional Repository: 110734, DOI: 10.2152/jmi.51.139, PubMed: 15460899, Elsevier: Scopus)
190.	Takashi Sakai, Li Liu, Xichuan Teng, Rika Mukai-Sakai, Hidenori Shimada, Ryuji Kaji, Tasuku Mitani, Mitsuru Matsumoto, Kazunori Toida, Kazunori Ishimura, Yuji Shishido, Tak W. Mak and Kiyoshi Fukui : Nucling Recruits Apaf-1/Pro-caspase-9 Complex for the Induction of Stress-Induced Apoptosis, The Journal of Biological Chemistry, Vol.279, No.39, 41131-41140, 2004. (Summary) 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. (Keyword) Alleles / Amino Acid Chloromethyl Ketones / Animals / Apoptosis / Apoptotic Protease-Activating Factor 1 / Blotting, Northern / Blotting, Western / COS Cells / Caspase 9 / Caspases / Cell Death / Cell Line / Cysteine Proteinase Inhibitors / Cytochromes c / Dose-Response Relationship, Drug / Down-Regulation / Electrophoresis, Gel, Two-Dimensional / Electrophoresis, Polyacrylamide Gel / Genetic Vectors / HeLa Cells / Humans / Hydrogen Peroxide / In Situ Nick-End Labeling / Membrane Proteins / Mice / Mice, Transgenic / Microscopy, Confocal / Mitochondria / Models, Genetic / Plasmids / Proteins / RNA / Reverse Transcriptase Polymerase Chain Reaction / Transfection / Transgenes / Ultraviolet Rays / Up-Regulation (Link to Publication Site) ● Publication site (DOI): 10.1074/jbc.M402902200 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 15271982 ● CiNii @ National Institute of Informatics (CRID): 1364233268616555648 ● Search Scopus @ Elsevier (PMID): 15271982 ● Search Scopus @ Elsevier (DOI): 10.1074/jbc.M402902200 (DOI: 10.1074/jbc.M402902200, PubMed: 15271982, CiNii: 1364233268616555648)
191.	Masataka Nishimura, Michiyuki Maeda, Jun-ichiro Yasunaga, Hideshi Kawakami, Ryuji Kaji, Akio Adachi, Takashi Uchiyama and Masao Matsuoka : 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, Human Immunology, Vol.64, No.4, 453-457, 2003. (Summary) 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. (Keyword) lymphotoxin (LT)-α / monocyte chemoattractant protein (MCP)-1 / mannose binding protein (ManBP) / human T-cell leukemia virus type I (HTLV-I) / HTLV-I associated myelopathy (HAM) (Link to Publication Site) ● Publication site (DOI): 10.1016/S0198-8859(02)00829-7 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 12651071 ● Search Scopus @ Elsevier (PMID): 12651071 ● Search Scopus @ Elsevier (DOI): 10.1016/S0198-8859(02)00829-7 (DOI: 10.1016/S0198-8859(02)00829-7, PubMed: 12651071)
192.	Kotaro Asanuma, Ryo Urushihara, Kazumi Nakamura, Kazuyoshi Kitaoka, Hiroyoshi Sei, Yusuke Morita, Hiroshi Shibasaki and Ryuji Kaji : Premovement gating of somatosensory evoked potentials after tibial nerve stimulation, NeuroReport, Vol.14, No.3, 375-379, 2003. (Summary) 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. (Keyword) dipole / Premovement gating / sensorimotor integration / SEP generator / Somatosensory evoked potentials (SEPs) / tibial nerve (Link to Publication Site) ● Publication site (DOI): 10.1097/00001756-200303030-00016 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 12634487 ● Search Scopus @ Elsevier (PMID): 12634487 ● Search Scopus @ Elsevier (DOI): 10.1097/00001756-200303030-00016 (DOI: 10.1097/00001756-200303030-00016, PubMed: 12634487)
193.	Masataka Nishimura, Masao Matsuoka, Michiyuki Maeda, Ikuko Mizut, Shuji Mita, Makoto Uchino, Makoto Matsui, Yasuo Kuroda, Hideshi Kawakami, Ryuji Kaji, Akio Adachi and Takashi Uchiyama : Association between interleukin-6 gene polymorphism and human T-Cell leukemia virus type I associated myelopathy, Human Immunology, Vol.63, No.8, 696-700, 2002. (Summary) 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. (Keyword) IL-6 / IL-10 / IL-1β / human T-cell leukemia virus type I (HTLV-I) / HAM (Link to Publication Site) ● Publication site (DOI): 10.1016/S0198-8859(02)00419-6 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 12121679 ● Search Scopus @ Elsevier (PMID): 12121679 ● Search Scopus @ Elsevier (DOI): 10.1016/S0198-8859(02)00419-6 (DOI: 10.1016/S0198-8859(02)00419-6, PubMed: 12121679)

Academic Paper (Unrefereed Paper):

1.	Yuishin Izumi, Ryosuke Oki, 桑原聡 and Ryuji Kaji : 【ALS 2019】メコバラミン, Advances in Neurological Sciences, Vol.71, No.11, 1261-1269, 2019. (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1523951030731320960 (CiNii: 1523951030731320960)
2.	小山広士, Shinya Ohkita, Hideo Mure, Ryoma Morigaki, Ryuji Kaji, Satoshi Goto and Shinji Nagahiro : 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, Shikoku Acta Medica, Vol.73, No.3 4, 193, 2017. (Summary) 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. (Keyword) deep brain stimulation / globus pallidus internus / tardive dyskinesia / tardive syndrome / Burke-Fahn-Marsden dystonia rating scale(BFMDRS) (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1050564287419680128 (CiNii: 1050564287419680128)
3.	Akemi Hioka, Yoshifumi Mizobuchi, Yoshiteru Tada, Kyoko Nishi, Yasuhiko Shirayama, Shinsuke Katoh, N Akazawa, Ryuji Kaji, Y Ojima and Shinji Nagahiro : Usefulness of a novel higher brain dysfunction screening test for evaluating higher brain function in healthy persons., The Journal of Medical Investigation : JMI, Vol.64, No.3.4, 280-285, 2017. (Summary) 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. (Keyword) Adult / Aged / Aging / Brain / Cross-Sectional Studies / Female / Humans / Male / Middle Aged (Tokushima University Institutional Repository) ● Metadata: 111133 (Link to Publication Site) ● Publication site (DOI): 10.2152/jmi.64.280 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 28954996 ● Search Scopus @ Elsevier (PMID): 28954996 ● Search Scopus @ Elsevier (DOI): 10.2152/jmi.64.280 (Tokushima University Institutional Repository: 111133, DOI: 10.2152/jmi.64.280, PubMed: 28954996)
4.	Shinji Nagahiro and Ryuji Kaji : Revised organ transplant act and neurosurgeons, JMAJ: Japan Medical Association Journal, Vol.54, No.6, 375-380, 2011. (Link to Search Site for Scientific Articles) ● Summary page in Scopus @ Elsevier: 2-s2.0-84856928597 (Elsevier: Scopus)
5.	Wataru Sako, Ryuji Kaji, Ryosuke MIYAMOTO, Ryoma Morigaki, Yoshifumi Mizobuchi, Shinji Nagahiro and Satoshi Goto : Conservative treatment strategy in patients with dystonia, Functional Neurosurgery, Vol.50, No.1, 36-37, 2011. (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1573387449814655232 (CiNii: 1573387449814655232)
6.	Wataru Sako, Ryoma Morigaki, Takashi TSUZUKI, Hiroyuki IMA, Yukitaka USHIO, Yoshifumi Mizobuchi, Shinji Nagahiro, Ryuji Kaji and Satoshi Goto : Bilateral pallidal stimulation in Meige syndrome, Functional Neurosurgery, Vol.50, No.1, 46-47, 2011. (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1572824499861230208 (CiNii: 1572824499861230208)
7.	Ryoma Morigaki, Wataru Sako, Yoshifumi Mizobuchi, Shinji Nagahiro, Satoshi Goto and Ryuji Kaji : Clinical characteristics of X-linked dystonia-parkinsonism, Functional Neurosurgery, Vol.50, No.1, 48-49, 2011. (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1571417124977670272 (CiNii: 1571417124977670272)
8.	Wataru Sako, Ryosuke MIYAMOTO, Ryuji Kaji, Ryoma Morigaki, Yoshifumi Mizobuchi, Shinji Nagahiro and Satoshi Goto : Bilateral subthalamic stimulation for dropped head syndrome in Parkinson's disease, Functional Neurosurgery, Vol.50, No.1, 108-109, 2011. (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1572261549908102016 (CiNii: 1572261549908102016)
9.	Wataru Sako, Ryoma Morigaki, Yoshifumi Mizobuchi, Shinji Nagahiro, Ryuji Kaji and Satoshi Goto : Meige症候群に対する両側淡蒼球刺激術, Functional Neurosurgery, Vol.49, No.2, 148-151, 2010. (Keyword) Meige症候群(合併症,外科的療法) / 淡蒼球 / 発病年齢 / 顔面けいれん(病因) / *脳深部刺激 / ヒト / 成人(19∼44) / 中年(45∼64) / 高齢者(65∼79) / 男 / 女 (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1573105974837985664 (CiNii: 1573105974837985664)
10.	Yoshiko Shibuta, Hiroyuki Nodera, Atsuko Mori, Takahiro Okita and Ryuji Kaji : Peripheral nerve excitability measures at different target levels: the effects of aging and diabetic neuropathy., Journal of Clinical Neurophysiology, Vol.27, No.5, 350-357, 2010. (Summary) 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. (Keyword) Action Potentials / adult education administration / Age Factors / Aged / diagnostic imaging / Axons / Diabetic Neuropathies / Female / Humans / Male / Membrane Potentials / Middle Aged / Motor Neurons / Muscle, Skeletal / Peripheral Nerves / Peripheral Nervous System Diseases / Young Adult (Link to Publication Site) ● Publication site (DOI): 10.1097/WNP.0b013e3181f387ab (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 20844439 ● Search Scopus @ Elsevier (PMID): 20844439 ● Search Scopus @ Elsevier (DOI): 10.1097/WNP.0b013e3181f387ab (DOI: 10.1097/WNP.0b013e3181f387ab, PubMed: 20844439)
11.	高松直子, Yuka Terasawa, Kenta Sato, Yuishin Izumi and Ryuji Kaji : ALSの超音波所見, Neurosonology, Vol.23, 58, 2010. (Keyword) *筋萎縮性側索硬化症(超音波診断); 超音波診断; 脊髄神経根(超音波診断) / Homo sapiens
12.	Yuka Terasawa, 高松直子, Kenta Sato, Yuishin Izumi and Ryuji Kaji : CIDPにおける頸部脊髄神経根内のHiS sign, Neurosonology, Vol.23, 58, 2010. (Keyword) 頸椎(超音波診断); 超音波診断; 脊髄神経根(超音波診断); 多発性根神経障害-慢性炎症性脱髄性(超音波診断) / ヒト; 男; 女
13.	Nobuhiro Inoue, Shinji Nagahiro, Ryuji Kaji and Satoshi Goto : Long-term suppression of Meige syndrome after pallidal stimulation: a 10-year follow-up study., Movement Disorders, Vol.25, No.11, 1756-1758, 2010. (Keyword) Aged / Deep Brain Stimulation / Female / Globus Pallidus / Humans / Longitudinal Studies / Meige Syndrome / Severity of Illness Index (Link to Publication Site) ● Publication site (DOI): 10.1002/mds.23166 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 20589876 ● Search Scopus @ Elsevier (PMID): 20589876 ● Search Scopus @ Elsevier (DOI): 10.1002/mds.23166 (DOI: 10.1002/mds.23166, PubMed: 20589876)
14.	坂東美佳, 山本伸昭, Yuka Terasawa, Yuishin Izumi, Ryuji Kaji, Junichiro Satomi and Shinji Nagahiro : 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, Shikoku Acta Medica, Vol.66, No.3-4, 101-106, 2010. (Keyword) 頸動脈疾患(画像診断,外科的療法); MRI; 超音波診断; ステント; SPECT; 動脈閉塞性疾患(画像診断,外科的療法); *内頸動脈(画像診断,外科的療法); 脳血管造影; 血管形成術; 病勢悪化 / ヒト; 高齢者(65∼79); 男 (Tokushima University Institutional Repository) ● Metadata: 110323 (Tokushima University Institutional Repository: 110323)
15.	Ryuji Kaji, Yuka Osako, Kazuaki Suyama, Toshio Maeda, Yasuyuki Uechi and Masaru Iwasaki : Botulinum toxin type A in post-stroke upper limb spasticity., Current Medical Research and Opinion, Vol.26, No.8, 1983-1992, 2010. (Summary) 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. (Keyword) Activities of Daily Living / adult education administration / Aged / Aged, 80 and over / pharmaceutical information science / Asian Continental Ancestry Group / Botulinum Toxins, Type A / Disability Evaluation / Dose-Response Relationship, Drug / Female / Humans / Male / Middle Aged / Muscle Spasticity / Neuromuscular Agents / lightning stroke / Thumb / Treatment Outcome / Wrist Joint / Young Adult (Link to Publication Site) ● Publication site (DOI): 10.1185/03007995.2010.497103 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 20569068 ● Search Scopus @ Elsevier (PMID): 20569068 ● Search Scopus @ Elsevier (DOI): 10.1185/03007995.2010.497103 (DOI: 10.1185/03007995.2010.497103, PubMed: 20569068)
16.	Ryuji Kaji : Entrapment neuropathy and beyond., The Journal of Physiology, Vol.588, No.Pt 13, 2289, 2010. (Keyword) Axons / Carpal Tunnel Syndrome / Humans / Models, Neurological / Motor Neurons / Nerve Compression Syndromes / Neurons / Radial Neuropathy (Link to Publication Site) ● Publication site (DOI): 10.1113/jphysiol.2010.193334 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 20595185 ● Search Scopus @ Elsevier (PMID): 20595185 ● Search Scopus @ Elsevier (DOI): 10.1113/jphysiol.2010.193334 (DOI: 10.1113/jphysiol.2010.193334, PubMed: 20595185)
17.	Wataru Sako, Nagako Murase, Yoshifumi Mizobuchi, Ryoma Morigaki, Kazuhito Matsuzaki, Shinji Nagahiro, Ryuji Kaji and Satoshi Goto : Vo-complex thalamotomy and pallidal stimulation in focal hand dystonia, Functional Neurosurgery, Vol.49, No.1, 98-99, 2010. (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1574231874745267840 (CiNii: 1574231874745267840)
18.	Ryoma Morigaki, Masaaki Uno, Shunji Matsubara, Koichi Satoh, Atsuhiko Suzue, Yoshifumi Mizobuchi, Wataru Sako, Ryuji Kaji, Shinji Nagahiro and Satoshi Goto : Involuntary movements due to cerebrovascular disease : Three case reports, Functional Neurosurgery, Vol.49, No.1, 60-61, 2010. (Keyword) 塞栓術 / 脳血管障害(合併症,外科的療法) / 舞踏病(病因) / 頸動脈内膜切除術 / 不随意運動 / coiled-coil motif / Homo sapiens / 高齢者(65∼79) / 男 / 女 (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1572261549908344832 (CiNii: 1572261549908344832)
19.	Yoshiko Shibuta, Hiroyuki Nodera, Atsuko Nodera, Takahiro Okita, Kotaro Asanuma, Yuishin Izumi and Ryuji Kaji : Utility of recovery cycle with two conditioning pulses for detection of impaired axonal slow potassium current in ALS., Clinical Neurophysiology, Vol.121, No.12, 2117-2120, 2010. (Summary) 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. (Keyword) Action Potentials / adult education administration / Aged / Aged, 80 and over / Amyotrophic Lateral Sclerosis / Axons / Case-Control Studies / Electric Stimulation / Electromyography / Female / Humans / Male / Middle Aged / Potassium Channels (Link to Publication Site) ● Publication site (DOI): 10.1016/j.clinph.2010.05.015 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 20538517 ● Search Scopus @ Elsevier (PMID): 20538517 ● Search Scopus @ Elsevier (DOI): 10.1016/j.clinph.2010.05.015 (DOI: 10.1016/j.clinph.2010.05.015, PubMed: 20538517)
20.	Atsuko Mori, Hiroyuki Nodera, Syunya Nakane and Ryuji Kaji : Transverse myelitis and polymyositis associated with antiphospholipid antibody syndrome., Clinical Neurology and Neurosurgery, Vol.112, No.8, 713-716, 2010. (Summary) 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. (Keyword) Antiphospholipid Syndrome / Humans / Male / Middle Aged / Muscle Weakness / Myelitis, Transverse / Polymyositis / beta 2-Glycoprotein I (Link to Publication Site) ● Publication site (DOI): 10.1016/j.clineuro.2010.04.017 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 20493629 ● Search Scopus @ Elsevier (PMID): 20493629 ● Search Scopus @ Elsevier (DOI): 10.1016/j.clineuro.2010.04.017 (DOI: 10.1016/j.clineuro.2010.04.017, PubMed: 20493629)
21.	Ryuji Kaji, Yuka Osako, Kazuaki Suyama, Toshio Maeda, Yasuyuki Uechi and Masaru Iwasaki : Botulinum toxin type A in post-stroke lower limb spasticity: a multicenter, double-blind, placebo-controlled trial., Journal of Neurology, Vol.257, No.8, 1330-1337, 2010. (Summary) 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. (Keyword) Adult / Aged / Aged, 80 and over / Botulinum Toxins, Type A / Double-Blind Method / Female / Humans / modern Japan / Lower Extremity / Male / Middle Aged / Muscle Spasticity / Neuromuscular Agents / Outcome Assessment (Health Care) / Paraparesis, Spastic / Placebos / Stroke / Young Adult (Link to Publication Site) ● Publication site (DOI): 10.1007/s00415-010-5526-3 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 20358216 ● Search Scopus @ Elsevier (PMID): 20358216 ● Search Scopus @ Elsevier (DOI): 10.1007/s00415-010-5526-3 (DOI: 10.1007/s00415-010-5526-3, PubMed: 20358216)
22.	Naoko Matsui, Takao Mitsui, Yasushi Ohshima, Kenji Yokoi, Makoto Kunishige, Fumikazu Yagi, Steven Vernino, Toshio Matsumoto and Ryuji Kaji : Anti-neuronal antibodies in acute pandysautonomia., Internal Medicine, Vol.49, No.1, 73-77, 2010. (Summary) 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. (Keyword) Aged / Autoantibodies / Autoimmune Diseases of the Nervous System / Autonomic Nervous System Diseases / Humans / Immunoblotting / Immunoglobulins, Intravenous / Male / Neurons / Plasma Exchange / Receptors, Cholinergic (Link to Publication Site) ● Publication site (DOI): 10.2169/internalmedicine.49.2788 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 20046006 ● CiNii @ National Institute of Informatics (CRID): 1390001204871227136 ● Search Scopus @ Elsevier (PMID): 20046006 ● Search Scopus @ Elsevier (DOI): 10.2169/internalmedicine.49.2788 (DOI: 10.2169/internalmedicine.49.2788, PubMed: 20046006, CiNii: 1390001204871227136)
23.	高井繁美, Hiroaki Yanagawa, 宮本登志子, 明石晃代, 井上弘美, 久米亜紀子, 田島壮一郎, 佐藤千穂, 西条伴香, 井本淳一郎, 鈴木あかね, 山上真樹子, 浦川典子, 下村智子, Rumi Katashima, Minoru Irahara, Yuishin Izumi, Ryuji Kaji, 西田善彦, 橋本和典, 近藤彰, 櫻木章司, 宇都宮正登, 川島周 and 徳島治験ネットワーク : 「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, Shikoku Acta Medica, Vol.66, No.1-2, 48, 2010. (Keyword) 国際協力; 神経系疾患(治療); 精神障害(治療); *臨床試験; 治験コーディネーター / Site Management Organization / Homo sapiens
24.	Yoshimitsu Shimatani and Ryuji Kaji : 小児難病を知る Charcot-Marie-Tooth病, Journal of Clinical Rehabilitation, Vol.19, No.8, 790-791, 2010. (Keyword) Charcot-Marie-Tooth病(遺伝学,診断,リハビリテーション) / 筋萎縮症 / 分類 / 予後 / 筋力低下 / 難病 / 遺伝的素因(疾患) / 下肢装具 / ヒト / 小児(6∼12)
25.	Atsuko Mori, Hiroyuki Nodera, Yoshiko Shibuta, Takahiro Okita, Hugh Bostock and Ryuji Kaji : Threshold-dependent effects on peripheral nerve in vivo excitability properties in the rat., Neuroscience Letters, Vol.468, No.3, 248-253, 2009. (Summary) 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. (Keyword) Action Potentials / Animals / Axons / Female / Muscle, Skeletal / Peripheral Nerves / Rats / Rats, Wistar (Link to Publication Site) ● Publication site (DOI): 10.1016/j.neulet.2009.11.006 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 19900504 ● Search Scopus @ Elsevier (PMID): 19900504 ● Search Scopus @ Elsevier (DOI): 10.1016/j.neulet.2009.11.006 (DOI: 10.1016/j.neulet.2009.11.006, PubMed: 19900504)
26.	Yasushi Torii, Yoshitaka Goto, Motohide Takahashi, Setsuji Ishida, Tetsuhiro Harakawa, Takashi Sakamoto, Ryuji Kaji, Shunji Kozaki and Akihiro Ginnaga : 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., Toxicon, Vol.55, No.2-3, 407-414, 2009. (Summary) 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. (Keyword) Action Potentials / Animals / Botulinum Toxins / Dose-Response Relationship, Drug / Female / Lethal Dose 50 / Mice / Mice, Inbred ICR / Muscle Relaxants, Central / Muscle, Skeletal / Neuromuscular Blocking Agents / Synaptic Transmission (Link to Publication Site) ● Publication site (DOI): 10.1016/j.toxicon.2009.09.005 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 19778548 ● Search Scopus @ Elsevier (PMID): 19778548 ● Search Scopus @ Elsevier (DOI): 10.1016/j.toxicon.2009.09.005 (DOI: 10.1016/j.toxicon.2009.09.005, PubMed: 19778548)

Academic Letter:

1.	Wataru Sako, Nagahisa Murakami, Yoshimichi Miyazaki, Yuishin Izumi and Ryuji Kaji : On-period unified Parkinson's disease rating scale before surgery correlates with differences in outcomes between pallidal and subthalamic stimulation: a meta-analysis., Neurological Sciences, Vol.37, No.1, 135-137, 2015. (Link to Publication Site) ● Publication site (DOI): 10.1007/s10072-015-2376-x (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26335017 ● Summary page in Scopus @ Elsevier: 2-s2.0-84955645742 (DOI: 10.1007/s10072-015-2376-x, PubMed: 26335017, Elsevier: Scopus)
2.	Ryosuke Miyamoto, Toshitaka Kawarai, Ryosuke Oki, Shinichi Matsumoto, Yuishin Izumi and Ryuji Kaji : Lack of C9orf72 expansion in 406 sporadic and familial cases of idiopathic dystonia in Japan., Movement Disorders, Vol.30, No.10, 1430-1431, 2015. (Keyword) dystonia / C9orf72 / prevalence of mutation / expansion mutation (Link to Publication Site) ● Publication site (DOI): 10.1002/mds.26310 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 26173439 ● Summary page in Scopus @ Elsevier: 2-s2.0-84941136467 (DOI: 10.1002/mds.26310, PubMed: 26173439, Elsevier: Scopus)
3.	Ryosuke Miyamoto, Hidetaka Koizumi, Hiroyuki Morino, Toshitaka Kawarai, Hirofumi Maruyama, Yohei Mukai, Ai Miyashiro, Wataru Sako, Yuishin Izumi, Hideshi Kawakami and Ryuji Kaji : DYT6 in Japan-genetic screening and clinical characteristics of the patients., Movement Disorders, Vol.29, No.2, 278-280, 2013. (Link to Publication Site) ● Publication site (DOI): 10.1002/mds.25745 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24227593 ● Summary page in Scopus @ Elsevier: 2-s2.0-84894236517 (DOI: 10.1002/mds.25745, PubMed: 24227593, Elsevier: Scopus)
4.	Toshio Inui, Toshitaka Kawarai, Koji Fujita, Kazuyuki Kawamura, Takao Mitsui, Antonio Orlacchio, Masaki Kamada, Takashi Abe, Yuishin Izumi and Ryuji Kaji : A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis., Journal of the Neurological Sciences, 2013. (Summary) 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. (Link to Publication Site) ● Publication site (DOI): 10.1016/j.jns.2013.08.020 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24034409 ● Search Scopus @ Elsevier (PMID): 24034409 ● Search Scopus @ Elsevier (DOI): 10.1016/j.jns.2013.08.020 (DOI: 10.1016/j.jns.2013.08.020, PubMed: 24034409)
5.	Ryoma Morigaki, Masahito Nakataki, Toshitaka Kawarai, Lillian V. Lee, Rosalia A. Teleg, Ma Daisy P. Tabuena, Hideo Mure, Wataru Sako, Paul Matthew D. Pasco, Shinji Nagahiro, Junichi Iga, Tetsuro Ohmori, Satoshi Goto and Ryuji Kaji : Depression in X-linked dystonia-parkinsonism:A case-control study, Parkinsonism & Related Disorders, Vol.19, No.9, 844-846, 2013. (Keyword) Case-Control Studies / Depression / Dystonic Disorders / Genetic Diseases, X-Linked / Heredodegenerative Disorders, Nervous System / Humans / Male / Parkinson Disease (Link to Publication Site) ● Publication site (DOI): 10.1016/j.parkreldis.2013.04.027 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 23706616 ● Summary page in Scopus @ Elsevier: 2-s2.0-84880785140 (DOI: 10.1016/j.parkreldis.2013.04.027, PubMed: 23706616, Elsevier: Scopus)
6.	Toshitaka Kawarai, 佐治直樹, 寺澤英夫, 清水洋孝, 喜多也寸志, Atsushi Tajima, Issei Imoto, Yuishin Izumi and Ryuji Kaji : 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, 難病と在宅ケア, Vol.18, No.8, 45-47, 2012.
7.	Koji Fujita, Mari Yoshida, Wataru Sako, Kouji Maeda, Yoshio Hashizume, Satoshi Goto, Gen Sobue, Yuishin Izumi and Ryuji Kaji : Brainstem and spinal cord motor neuron involvement with optineurin inclusions in proximal-dominant hereditary motor and sensory neuropathy, Journal of Neurology, Neurosurgery, and Psychiatry, Vol.82, No.12, 1402-1403, 2011. (Keyword) Brain Stem / Hereditary Sensory and Motor Neuropathy / Humans / Inclusion Bodies / male / Middle Aged / Motor Neurons / spinal cord / Transcription Factor TFIIIA (Link to Publication Site) ● Publication site (DOI): 10.1136/jnnp-2011-300783 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 21836032 ● Summary page in Scopus @ Elsevier: 2-s2.0-80855123814 (DOI: 10.1136/jnnp-2011-300783, PubMed: 21836032, Elsevier: Scopus)
8.	Mamede Carvalho de, Reinhard Dengler, Andrew Eisen, D John England, Ryuji Kaji, Jun Kimura, Kerry Mills, Hiroshi Mitsumoto, Hiroyuki Nodera, Jeremy Shefner and Michael Swash : The Awaji criteria for diagnosis of ALS., Muscle & Nerve, Vol.44, No.3, 456-457, 2011. (Keyword) Amyotrophic Lateral Sclerosis / Humans / Severity of Illness Index (Link to Publication Site) ● Publication site (DOI): 10.1002/mus.22175 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 21996809 ● Search Scopus @ Elsevier (PMID): 21996809 ● Search Scopus @ Elsevier (DOI): 10.1002/mus.22175 (DOI: 10.1002/mus.22175, PubMed: 21996809)
9.	Hirofumi Maruyama, Hiroyuki Morino, Hidefumi Ito, Yuishin Izumi, Hidemasa Kato, Yasuhito Watanabe, Yoshimi Kinoshita, Masaki Kamada, Hiroyuki Nodera, Hidenori Suzuki, Osamu Komure, Shinya Matsuura, Keitaro Kobatake, Nobutoshi Morimoto, Koji Abe, Naoki Suzuki, Masashi Aoki, Akihiro Kawata, Takeshi Hirai, Takeo Kato, Kazumasa Ogasawara, Asao Hirano, Toru Takumi, Hirofumi Kusaka, Koichi Hagiwara, Ryuji Kaji and Hideshi Kawakami : Mutations of optineurin in amyotrophic lateral sclerosis., Nature, Vol.465, No.7295, 223-226, 2010. (Summary) 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. (Keyword) Adolescent / Adult / Aged / Aged, 80 and over / Amino Acid Sequence / Amyotrophic Lateral Sclerosis / Asian Continental Ancestry Group / Base Sequence / children / Codon, Nonsense / Consanguinity / Cytoplasm / DNA-Binding Proteins / Exons / Female / Humans / modern Japan / Male / Middle Aged / Mutant Proteins / Mutation / Mutation, Missense / NF-kappa B / Pedigree / Polymorphism, Single Nucleotide / Protein Transport / Sequence Deletion / Superoxide Dismutase / Transcription Factor TFIIIA / Young Adult (Link to Publication Site) ● Publication site (DOI): 10.1038/nature08971 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 20428114 ● Search Scopus @ Elsevier (PMID): 20428114 ● Search Scopus @ Elsevier (DOI): 10.1038/nature08971 (DOI: 10.1038/nature08971, PubMed: 20428114)

Review, Commentary:

1.	Yuishin Izumi, Ryosuke Oki, 桑原聡 and Ryuji Kaji : 【ALS-どこまでわかり,どこまで治るか】現在の治療とケア高用量メチルコバラミン, Clinical Neuroscience, Vol.41, No.3, 388-391, Mar. 2023.
2.	Yuishin Izumi, Masaki Kamada and Ryuji Kaji : 【日本発の神経疾患-発見の歴史からのメッセージ】遺伝性疾患 Optineurin 臨床の歴史, Clinical Neuroscience, Vol.41, No.1, 92-94, Jan. 2023.
3.	Ryosuke Oki, Koji Fujita, Yuishin Izumi and Ryuji Kaji : 高用量メチルコバラミン, Home Health Care for the People with Intractable Diseases, Vol.27, No.4, 10-14, Jul. 2021. (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1521417756163133440 (CiNii: 1521417756163133440)
4.	Yuishin Izumi, Ryosuke Oki and Ryuji Kaji : Development of early diagnosis and clinical trials for ALS, Journal of Clinical and Experimental Medicine, Vol.272, No.6, 517-521, Feb. 2020. (Keyword) 筋萎縮性側索硬化症(ALS) / メコバラミン / 医師主導治験 / updatedAwaji基準 (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1524232505765577856 (CiNii: 1524232505765577856)
5.	Yuishin Izumi, Ryosuke Oki, 今村惠子, 井上治久 and Ryuji Kaji : 新しい薬剤によるALSの治療戦略について, 難病と在宅ケア, Vol.25, No.5, 13-18, Aug. 2019. (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1523669555900181888 (CiNii: 1523669555900181888)
6.	Yuishin Izumi, Ryosuke Oki and Ryuji Kaji : ALSに対する治験の最新情報-2 高用量E0302の筋萎縮性側索硬化症に対する第III相試験, Neurological Therapeutics, Vol.36, No.4, 465-470, Jul. 2019.
7.	Yuishin Izumi, Ryosuke Oki, 桑原聡 and Ryuji Kaji : 高用量E0302 の筋萎縮性側索硬化症に対する第Ⅲ相試験, Neurological Therapeutics, Vol.36, 465-470, 2019. (Link to Publication Site) ● Publication site (DOI): 10.15082/jsnt.36.4_465 (Link to Search Site for Scientific Articles) ● CiNii @ National Institute of Informatics (CRID): 1390848250106299648 ● Search Scopus @ Elsevier (DOI): 10.15082/jsnt.36.4_465 (DOI: 10.15082/jsnt.36.4_465, CiNii: 1390848250106299648)
8.	石田光代, Naoko Matsui, 高橋美和, 杉原治美, Yuishin Izumi, 西田善彦 and Ryuji Kaji : 就労可能な神経難病患者における共通特性の検討, 日本難病医療ネットワーク学会機関誌, Vol.5, No.2, 50-55, Nov. 2018.
9.	Naoko Matsui, Yohhei Yamamoto and Ryuji Kaji : 多巣性運動ニューロパチー (MMN), Clinical Neuroscience, Vol.36, No.9, 1051-1053, Sep. 2018.
10.	Yohhei Yamamoto, Naoko Matsui and Ryuji Kaji : 多巣性運動ニューロパチー(MMN)の病態と治療, Peripheral Nerve 末梢神経, Vol.29, No.1, 24-27, Jun. 2018.
11.	Naoko Matsui, 田中惠子 and Ryuji Kaji : ステイッフ・パーソン症候群と自己抗体, Brain and Nerve = Shinkei kenkyū no shinpo, Vol.70, No.4, 357-362, Apr. 2018. (Link to Publication Site) ● Publication site (DOI): 10.11477/mf.1416201008 (Link to Search Site for Scientific Articles) ● Search Scopus @ Elsevier (DOI): 10.11477/mf.1416201008 (DOI: 10.11477/mf.1416201008)
12.	Naoko Matsui, Shunya Nakane and Ryuji Kaji : ステイッフパーソン症候群, Modern Physician, Vol.36, No.7, 745-747, Jul. 2016.
13.	Naoko Matsui and Ryuji Kaji : 慢性炎症性脱髄性多発根ニューロパチー，多巣性運動ニューロパチー診療ガイドライン2013の要点, Nihon Rinsho. Japanese Journal of Clinical Medicine, Vol.73, No.7, 419-421, Sep. 2015.
14.	Wataru Sako and Ryuji Kaji : 不随意運動の診かた(ジストニアを含めて), Medical Practice, Vol.32, No.6, 945-949, Jun. 2015.
15.	古川貴大, Naoko Matsui and Ryuji Kaji : 多巣性運動ニューロパチー(MMN), 別冊日本臨床領域別症候群27 神経症候群, 848-850, Mar. 2014.
16.	Naoko Matsui, 古川貴大 and Ryuji Kaji : 多巣性運動ニューロパチー(MMN) 病態と検査所見, Clinical Neuroscience, Vol.32, No.3, 324-326, Mar. 2014.
17.	Toshitaka Kawarai, 武内俊明, 宮本亮介, Yoshimichi Miyazaki and Ryuji Kaji : 【神経症候群(第2版)-その他の神経疾患を含めて-】変性疾患錐体外路系疾患不随意運動を主とする疾患ジストニア症候群一次性遺伝性ジストニア発作性ジストニア DYT9ジストニア(発作性舞踏アテトーシス・痙性対麻痺:CSE)，DYT18ジストニア(発作性運動誘発性ジスキネジア:PED), Nihon Rinsho. Japanese Journal of Clinical Medicine, 255-257, 2014. (Keyword) アテトーシス(病因) 基底核疾患筋痙縮(病因) 舞踏病(病因) 対麻痺(病因) 不随意運動 Glucose Transporter Type 1 *発作性運動誘発性ジスキネジア(病因) ヒト
18.	Yoshimichi Miyazaki, Naoko Matsui, Koji Fujita, Takashi Abe, 高橋利幸, Masafumi Harada and Ryuji Kaji : 見逃し危険!MRIで迫る中枢神経疾患の画像診断(第8回) 脳室周囲および延髄背側の病変心因性障害と考えられていた39歳女性, Practical Currently, Vol.24, No.10, 1094-1099, 2014. (Summary) <Key Points>(1)視神経炎や脊髄炎を呈し，脳室周囲や延髄背側の病変，3椎体以上の長い脊髄病変を見たときはNMO spectrum disorderを疑い，抗AQP4抗体を検査する．(2)NMO spectrum disorderの急性期はステロイドパルスや血漿交換を行い，再発予防はプレドニゾロンが第一選択である．(著者抄録) (Keyword) Prednisolone(治療的利用) 延髄(画像診断) 血漿交換 MRI 視神経脊髄炎(画像診断,薬物療法,治療) 鑑別診断多発性硬化症脳室(画像診断) 心因性疾患ヒト成人(19~44) 女
19.	Naoko Matsui and Ryuji Kaji : MMN:疫学と治療の実態, BRAIN MEDICAL, Vol.25, No.3, 45-48, Dec. 2013.
20.	Ryoma Morigaki and Ryuji Kaji : 不随意運動, The Journal of the Japan Medical Association, Vol.142, No.2, 95-96, Oct. 2013.
21.	Toshitaka Kawarai, 宮本亮介, 村上永尚, 小泉英貴, 小泉英貴, Wataru Sako, 向井洋平, Kenta Sato, 松本真一, Takashi Sakamoto, Yuishin Izumi and Ryuji Kaji : Dystonia genes and elucidation of their roles in dystonia pathogenesis, Clinical Neurology, Vol.53, No.6, 419-429, Jun. 2013. (Summary) Identification of causative genes for hereditary dystonia and elucidation of their functions are crucial for better understanding of dystonia pathogenesis. As seen in other hereditary neurologic disorders, intra- and inter-familial clinical variations have been demonstrated in hereditary dystonia. Asymptomatic carriers can be found due to alterations in penetrance, generally reduced in succeeding generations. Current known dystonia genes include those related to dopamine metabolism, transcription factor, cytoskeleton, transport of glucose and sodium ion, etc. It has been reported that effects of deep brain stimulation can vary significantly depending on genotype. Accumulation of genotype-outcome correlations would contribute to treatment decisions for dystonia patients. (Keyword) dystonia / pathogenecity (Link to Publication Site) ● Publication site (DOI): 10.5692/clinicalneurol.53.419 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 23782819 ● Summary page in Scopus @ Elsevier: 2-s2.0-84879578823 (DOI: 10.5692/clinicalneurol.53.419, PubMed: 23782819, Elsevier: Scopus)
22.	Naoko Matsui, Ai Miyashiro and Ryuji Kaji : 多巣性運動ニューロパチー(MMN)の疫学・病態と治療, 特集:免疫性神経疾患, Vol.71, No.5, 861-864, May 2013.
23.	Koji Fujita, Yuishin Izumi and Ryuji Kaji : [Inflammatory mechanisms in amyotrophic lateral sclerosis]., Brain and Nerve = Shinkei kenkyū no shinpo, Vol.64, No.3, 273-278, Mar. 2012. (Summary) Neuroinflammation is a pathological hallmark in human amyotrophic lateral sclerosis (ALS) patients and in the transgenic models of the disease. The importance of glial cell activation and pro-inflammatory cytokines in ALS has been confirmed by numerous studies. For instance, tumor necrosis factor- (TNF-), a major pro-inflammatory cytokine, activates microglia and cause neurotoxicity in motor neurons. More recently, the relationship of nuclear factor-B (NF-B) and motor neuron degeneration has garnered attention since optineurin (OPTN) mutations were reported in familial ALS. OPTN negatively regulates TNF--induced NF-B activation, but OPTN mutations can lead to dysinhibition of NF-B-induced neurotoxicity. Notably, OPTN-positive inclusions are observed not only in familial ALS with OPTN mutation but also in sporadic ALS and in familial ALS with SOD1 and fused in sarcoma mutations, suggesting that OPTN- and NF-B-related pathways are relevant to the general pathomechanisms of ALS. In this review, we discuss inflammatory aspects of ALS comprising the roles of cytokines, glial cells, and T cells. (Keyword) Amyotrophic Lateral Sclerosis / Animals / Chemokines / cytokinesis / Humans / inflammation / NF-kappa B / Transcription Factor TFIIIA (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 22402721 ● Search Scopus @ Elsevier (PMID): 22402721 (PubMed: 22402721)
24.	Yoshimichi Miyazaki and Ryuji Kaji : 【類似する神経症候・徴候を正しく理解する-神経診断のピットフォール】筋性斜頸と痙性斜頸, Clinical Neuroscience, Vol.30, No.5, 516-517, 2012. (Keyword) 筋電図 Cholinergic Antagonists(治療的利用) MRI 斜頸(診断,病因,治療) 触診神経ブロック Botulinum Toxins, Type A(治療的利用) 大量薬物療法脳深部刺激斜頸-筋性(診断,病因,治療) *斜頸-痙性(診断,病因,治療) ヒト
25.	織田雅也, Yuishin Izumi and Ryuji Kaji : Gene mutations in familial amyotrophic lateral sclerosis, Brain and Nerve = Shinkei kenkyū no shinpo, Vol.63, No.2, 165-170, Feb. 2011. (Summary) Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscle weakness that reflects degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem, and spinal cord. Most ALS cases are sporadic, but about 5%-10% are familial. The majority of familial ALS (FALS) cases follow an autosomal dominant inheritance pattern, and include the following mutations: ALS1, Cu/Zn superoxide dismutase (SOD1); ALS3; ALS4, senataxin; ALS6, fused in sarcoma (FUS); ALS7; ALS8, vesicle-associated membrane protein; ALS9, angiogenin; ALS10, TAR DNA-binding protein (TARDBP); and ALS11/FIG4. Some of these gene mutations are rarely seen in sporadic ALS cases. ALS2/alsin and ALS5 show an autosomal recessive inheritance pattern. Recently, mutations in the gene encoding optineurin, earlier reported to be a causative gene for primary open-angle glaucoma, have also been found in patients with ALS. It has also been demonstrated that a mutation in the D-amino acid oxidase gene is associated with classic adult-onset FALS. However, these genetic defects occur in only about 20%-30% FLAS cases, while most genes causing FALS remain unknown. (Keyword) D-amino acid oxidase / DNA-Binding Proteins / Flavoproteins / Pancreatic Ribonuclease / Superoxide Dismutase / 眼球蛋白質 / 筋萎縮性側索硬化症 / 変異 / Guanine Nucleotide Exchange Factors / RNA Helicases / 遺伝的素因(疾患) / RNA-Binding Protein FUS / 小胞輸送蛋白質 / Angiogenin / Alsin / TDP-43 Protein / SETX Protein / VAPB Protein / FIG4 Protein / Mouse Optn Protein / Homo sapiens (Link to Publication Site) ● Publication site (DOI): 10.11477/mf.1416100841 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 21301041 ● CiNii @ National Institute of Informatics (CRID): 1390002209990929664 ● Search Scopus @ Elsevier (PMID): 21301041 ● Search Scopus @ Elsevier (DOI): 10.11477/mf.1416100841 (DOI: 10.11477/mf.1416100841, PubMed: 21301041, CiNii: 1390002209990929664)
26.	Kenta Sato and Ryuji Kaji : 【What's Dystonia(ジストニア)?】筋トーヌスとジストニアの病態ジストニアの病態生理, Clinical Neuroscience, Vol.28, No.7, 746-748, Jul. 2010. (Keyword) Dopamine; *ジストニア(治療); 運動皮質(画像診断); 基底核(画像診断); 筋緊張; 筋収縮; MRI; 神経経路; 脳深部刺激; 陽電子放射型断層撮影 / 病態生理 / Homo sapiens
27.	宮崎由道, 高松直子, 宮城愛, Yuka Terasawa, Naoko Matsui, Koutaro Asanuma, Yuishin Izumi and Ryuji Kaji : 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, Neurosonology, Vol.23, 106, Apr. 2010. (Keyword) 筋炎(合併症,超音波診断); 心筋炎(合併症,超音波診断); 超音波診断; *心房(超音波診断) / ヒト; 中年(45∼64); 女

Proceeding of International Conference:

1.	Yusuke Osaki, Hiroyuki Nodera, Ryosuke Miyamoto, Hiroyuki Morino, M Chan, Ryuji Kaji and Yuishin Izumi : Peripheral nerve excitability abnormality in spinocerebellar ataxia type 6, Neuroscience 2023, Nov. 2023.
2.	Naoko Matsui, Tanaka Keiko, Yamamoto Yohei, Saika Reiko, Iizuka Takahiro, Matsui Makoto, Kokichi Arisawa, Ryuji Kaji, Kuwabara Satoshi and Yuishin Izumi : Prevalence, clinical profiles, and prognosis of Stiff-person syndrome in Japanese nationwide survey, The 9th Congress of the European Academy of Neurology (EAN), Jul. 2023.
3.	Yuishin Izumi, Oki Ryosuke, Kuwabara Satoshi and Ryuji Kaji : Phase 3 trial of Ultra-high dose Methylcobalamin in early-stage amyotrophic lateral sclerosisImpact of spreading covid19 infection, XXV World Congress of Neurology, Oct. 2021.
4.	Yuishin Izumi, Oki Ryosuke, Kuwabara Satoshi and Ryuji Kaji : Efficacy and Safety of Ultra-high dose Methylcobalamin in Early stage Amyotrophic Lateral Sclerosis: Results of a randomized, double-blind, phase 3 trial (JETALS), XXV World Congress of Neurology, Oct. 2021.
5.	R Oki, Yuishin Izumi, Koji Fujita, Y Sato, S Sakaguchi, K Yagi, A Matsushita, K Maeda, Hiroaki Yanagawa and Ryuji Kaji : Management of phase 3 clinical trial for ALS during the COVID-19 pandemic, Pan-Asia Consortium for Treatment and Research in ALS (PACTALS) 2021 NAGOYA, Nagoya, Sep. 2021.
6.	Yuishin Izumi, R Oki, S Kuwabara and Ryuji Kaji : Safety and efficacy in a randomized, double-bling, phase 3 trial of ultra-high dose methylcobalamin in early-stage patients with ALS, Pan-Asia Consortium for Treatment and Research in ALS (PACTALS) 2021 NAGOYA, Nagoya, Sep. 2021.
7.	Nobuaki Yamamoto, Yuki Yamamoto, Masaaki Korai, Kenji Shimada, Yasuhisa Kanematsu, Yuishin Izumi, Yasushi Takagi and Ryuji Kaji : Hyperintense Signals on Arterial Spin-Labeled Imaging as a predictor for favorable outcome after Late Time Window Thrombectomy, The 5th European Stroke Organization Conference, ESOC 2019, Milan, May 2019.
8.	Kyoko Nishi, Yasushi Takagi, Yasuhisa Kanematsu, Ryuji Kaji, Y Hamada, T Takagi, S Katoh and Shinji Nagahiro : Development and future prospects of Tokushima University Hospital stroke care unit (SCU), 11th World Stroke Congress 2018, Montreal, Oct. 2018.
9.	Wataru Sako, Takashi Abe, Shotaro Haji, Nagahisa Murakami, Yuishin Izumi, Masafumi Harada and Ryuji Kaji : Derivation and characterization of Parkinson's disease related pattern using functional magnetic resonance imaging, The Movement Disorder Society 21th International Congress of Parkinson's Disease and Movement Disorders, Hong Kong, Oct. 2018.
10.	Kyoto Hoshino, Toshitaka Kawarai, Masaharu Hayashi, Kazue Kimura, Yuri Nagao, Michio Fukumizu, Ryosuke Miyamoto and Ryuji Kaji : ENCEPHALOPATHY IN A PATIENT WITH RAPID-ONSET DYSTONIA-PARKINSONISM CARRYING A NOVEL ATP1A3 MUTATION, The MDS 22th International Congress of Parkinsons Disease and Movement Disorders Society, Oct. 2018. (Keyword) ATP1A3 / dystonia / parkinsonism / encephalopathy
11.	Toshitaka Kawarai, Ryosuke Miyamoto, Orlacchio Antonio and Ryuji Kaji : OHORT PROFILE OF THE JAPAN DYSTONIA CONSORTIUM: GENETIC DIAGNOSIS AND CHARACTERISTICS OF MOVEMENT DISORDERS IN JAPAN, The MDS 22th International Congress of Parkinsons Disease and Movement Disorders Society, Oct. 2018. (Keyword) Dystonia / genetic study / movement disorders
12.	Yuki Yamamoto, Nobuaki Yamamoto, Idumi Yamaguchi, Masaaki Korai, Yasuhisa Kanematsu, Junichiro Satomi, Shinji Nagahiro and Ryuji Kaji : Crab claw sign predicts successful recanalization in acute mechanical thrombectomy, 14TH CONGRESS OF THE WORLD FEDERATION OF INTERVENTIONAL AND THERAPEUTIC NEURORADIOLOGY, Budapest, Oct. 2017.
13.	Wataru Sako, Takashi Abe, Yuishin Izumi, Masafumi Harada and Ryuji Kaji : Difference in glutamate concentration in the thalamus between Parkinsons disease and multiple system atrophy, XX III World Congress of Neurology, Sep. 2017.
14.	Toshitaka Kawarai, Ryosuke Miyamoto, Hideo Mure, Ryoma Morigaki, Orlacchio Antonio, Koichihara Reiko, Nakagawa Eiji, Takashi Sakamoto, Yuishin Izumi, Satoshi Goto and Ryuji Kaji : Haploinsufficiency of KMT2B causes myoclonus-dystonia with impaired psychomotor ability, The MDS 21th International Congress of Parkinsons Disease and Movement Disorders, Jun. 2017. (Keyword) KMT2B / dystonia
15.	Orlacchio Antonio, Montecchiani Celeste, Ryosuke Miyamoto, Mearini Marzia, DOnofrio Laura, Marialuisa Miele, Gaudiello Fabrizio, Yuishin Izumi, Caltagirone Carlo, Ryuji Kaji and Toshitaka Kawarai : Spastic Paraplegia Type 4: a Novel SPAST Splice Site Donor Mutation and Expansion of the Phenotype Variability, The MDS 21th International Congress of Parkinsons Disease and Movement Disorders, Jun. 2017. (Keyword) Spastic Paraplegia / Phenotype Variability
16.	Masaki Kamada, Toshitaka Kawarai, Ryosuke Miyamoto, Tojima Yuki, Orlacchio Antonio and Ryuji Kaji : Hereditary spastic paraplegia type 31: a novel splice site donor mutation and intra-familial phenotypic variability, The MDS 21th International Congress of Parkinsons Disease and Movement Disorders, Jun. 2017. (Keyword) hereditary spastic paraplegia / phenotypic variability
17.	Wataru Sako, 村上永尚, 元浜啓介, Yuishin Izumi and Ryuji Kaji : Istradefylline improves motor symptoms in Parkinsons disease: A meta-analysis, The Movement Disorder Society 21th International Congress of Parkinson's Disease and Movement Disorders, Vancouver, Jun. 2017.
18.	Nobuaki Yamamoto, Junichiro Satomi, Yuishin Izumi, Shinji Nagahiro and Ryuji Kaji : Usefulness of 3-tesla magnetic resonance arterial spin-labeled imaging for diagnosis of cranial dural arteriovenous fistula, European Stroke Organization Conference, May 2017.
19.	Naoko Matsui, Takahiro Furukawa, Sakai Waka and Ryuji Kaji : Late-onset myasthenia gravis is predisposed to become generalized in the elderly, BITs 7th World Gene Convention, Shanghai, Nov. 2016. (Link to Publication Site) ● Publication site (DOI): 10.1016/j.ensci.2016.02.004 (Link to Search Site for Scientific Articles) ● Summary page in Scopus @ Elsevier: 2-s2.0-84961639785 (DOI: 10.1016/j.ensci.2016.02.004, Elsevier: Scopus)
20.	Nobuaki Yamamoto, Junichiro Satomi, Yuishin Izumi, Shinji Nagahiro and Ryuji Kaji : Predictors of a favorable outcome after recanalization In patients with cerebral major vessel occlusion, International Symposium on Thrombectomy and Acute Stroke Therapy, Oct. 2016.
21.	Toshitaka Kawarai, Ryosuke Miyamoto, Kuroda Yukiko, Omoto Masatoshi, Ueyama Morio, Murakami Nagahisa, Takahiro Furukawa, Oki Ryosuke, Hiroyuki Nodera, Orlacchio Antonio, Hashiguchi Akihiro, Higuchi Yujiro, Takashima Hiroshi, Kanda Takashi, Yuishin Izumi, Nagai Yoshitaka, Takao Mitsui and Ryuji Kaji : A Homozygous loss-of-function mutation in DNAJA3 causes Hereditary Motor and Sensory Neuropathy with Spastic Paraplegia (HMSN type V), The MDS 20th International Congress of Parkinsons Disease and Movement Disorders, Jun. 2016. (Keyword) DNAJA3 / Hereditary Motor and Sensory Neuropathy
22.	Nobuaki Yamamoto, Junichiro Satomi, Shinji Nagahiro and Ryuji Kaji : Predictors of a good outcome after successful recanalization using tPA and endovascular treatment in patients with cerebral major vessel occlusion, 25th European Stroke Conference, Venice, Apr. 2016.
23.	Naoko Matsui, Takahiro Furukawa, Koji Fujita, Hiroyuki Nodera, Fumitaka Shimizu, Katsuichi Miyamoto, Yukitoshi Takahashi, Takashi Kanda, Susumu Kusunoki, Yuishin Izumi and Ryuji Kaji : CSF cytokine profile distinguishes multifocal motor neuropathy from progressive muscular atrophy, 1st Asia-Pacific School of Neuroimmunology, Vol.2, No.5, e138, Tokyo, Aug. 2015. (Link to Publication Site) ● Publication site (DOI): 10.1212/NXI.0000000000000138 (Link to Search Site for Scientific Articles) ● Summary page in Scopus @ Elsevier: 2-s2.0-85011964802 (DOI: 10.1212/NXI.0000000000000138, Elsevier: Scopus)
24.	Takahiro Furukawa, Naoko Matsui, Kaji Fujita, Hiroyuki Nodera, Fumitaka Shimizu, Katsuyuki Miyamoto, Yukitoshi Takahashi, Takashi Kanda, Susumu Kusunoki, Yuishin Izumi and Ryuji Kaji : CSF cytokine profile distinguishes multifocal motor neuropathy from progressive muscular atrophy, 1st Congress of the European Academy of Neurology, Vol.2, No.5, 138, Berlin, Jul. 2015. (Link to Publication Site) ● Publication site (DOI): 10.1212/NXI.0000000000000138 (Link to Search Site for Scientific Articles) ● Summary page in Scopus @ Elsevier: 2-s2.0-85011964802 (DOI: 10.1212/NXI.0000000000000138, Elsevier: Scopus)
25.	Nobuaki Yamamoto, Junichiro Satomi, Yuishin Izumi, Shinji Nagahiro and Ryuji Kaji : Is the susceptibility vessel sign on 3-tesla magnetic resonance T2*-weighted imaging a useful tool to predict recanalization?, European Stroke Conference 2015, Vienna, Austria, May 2015.
26.	Takashi Abe, Toshitaka Kawarai, Obama Y, Irahara I, Kaji Seiji, Ryosuke Miyamoto, Sakai Waka, Tsukamoto-Miyashiro Ai, Naoko Matsui, Yuishin Izumi, Ryuji Kaji and Masafumi Harada : Retrospective review of MRI and MRS findings in hereditary diffuse leukoencephalopathy with spheroids and elderly asymptomatic carrier of causative gene, colony stimulating factor-1 receptor: a single institution study., ASNR 53rd Annual Meeting & The Foundation of the ASNR Symposium, Apr. 2015.
27.	Kaji Seiji, Ryosuke Miyamoto, Osaki Yusuke, Hiroyuki Nodera, Toshitaka Kawarai, Yuishin Izumi and Ryuji Kaji : Late-Onset Spastic Paraplegia Type 10 (SPG10) Family Presenting with Bulbar Symptoms - Primary Lateral Sclerosis (PLS) Mimic., The 67th AAN Annual Meeting of American Anademy of Neurology, Apr. 2015.
28.	Jiro Kasahara, Yamamura Yukio, Tanabe Akie, Ryoma Morigaki, Ryuji Kaji and Satoshi Goto : Inhibition of c-Abelson tyrosine kinase (c-Abl) as a possible strategy for treatment of PD: Study in MPTP-induced mice model, The 12th International Conference on Alzheimers's and Parkinson;s Disease: AD/PD 2015, Mar. 2015.
29.	Junichiro Satomi, Yoshiteru Tada, Takashi Abe, Kazuyuki Kuwayama, Ryuji Kaji, Nobuaki Yamamoto, Masafumi Harada and Shinji Nagahiro : Intra-arterial signal on arterial spin labeling perfusion MRI can identify stagnant flow in patients with acute middle cerebral rtery occlusion, INTERNATIONAL STROKE CONFERENCE 2015, Nashville, USA, Feb. 2015.
30.	Nobuaki Yamamoto, Yuka Terasawa, Junichiro Satomi, Ryoma Morigaki, Koji Fujita, Masafumi Harada, Yuishin Izumi, Shinji Nagahiro and Ryuji Kaji : Reversibility of ischemic findings on 3-tesla magnetic resonance T2*-weighted image after recanalization, European Stroke Conference 2014, Nice, France, May 2014.
31.	Naoko Matsui, Izumi Ohigashi, Yousuke Takahama and Ryuji Kaji : Increased Hassalls corpuscles in myasthenia gravis patients carrying thymic hyperplasia, Myasthenia 2013, Paris, Jul. 2013.
32.	Ryuji Kaji : Regaining Active Function of Limbs with BOTOX in post-stroke spasticity, 第2回日韓ニューロリファビリテーションカンファレンス, Feb. 2013.
33.	Naoko Matsui, Izumi Ohigashi, Kazuya Kondo, Nomura Yoshiko, Yousuke Takahama and Ryuji Kaji : Increased Hassalls Corpuscles In Myasthenia Gravis Patients Carrying Thymic Hyperplasia, 11th International congress of neuroimmunology, Nov. 2012.
34.	Ryuji Kaji : Regaining Active function of Limbs with BOTOX in post-stroke spasticity, 第2回アジア太平洋脳卒中会議, Sep. 2012.
35.	Sakai Waka, Naoko Matsui, Yuishin Izumi and Ryuji Kaji : Clinical difference between myasthenia gravis patients with an onset age of 50-64 and over 65, European Federation of Neurological Societies (EFNS) 2012, Stockholm, Sep. 2012.
36.	Yuka Terasawa, 山本伸昭, Yuishin Izumi, Ryuji Kaji, Junichiro Satomi and Shinji Nagahiro : 当院におけるt-PA実施100例の検討, 第14回徳島脳卒中研究会, Tokushima, Feb. 2012.
37.	Yoshimichi Miyazaki, Wataru Sako, Koutaro Asanuma, Yuishin Izumi and Ryuji Kaji : Open-label trial of zolpidem for dystonia: differential effects among subtypes., The XXth World Congress of Neurology, Morocco, Nov. 2011.
38.	Ryuji Kaji : "Clinical pathological and genetic features of amyotrophic lateral, 21st International Symposium on ALS/MND, Dec. 2010.
39.	Ryuji Kaji : Molecular Dissection of X-linked Dystonia Parkinsonism, PHILIPPINE NEUROLOGICAL ASSOCIATION, Jul. 2010.
40.	Ryuji Kaji : Focal dystonias: What are the therapeutic strategies?, MDS 14th International Congress of Parkinson's Disease and Movement Disorders, Jun. 2010.
41.	Yoshimichi Miyazaki, Wataru Sako, Koutaro Asanuma, Yuishin Izumi and Ryuji Kaji : Zolpidem therapy in dystonia, The Movement Disorder Society's 14th International Congress of Parkinson's disease and Movement Disorders, Buenos Aires, May 2010.
42.	Ryuji Kaji : Muscle Afferent Block for Treatment of Dystonia, First International Congress on Treatment of Dystonia, May 2010.
43.	Ryuji Kaji : Deep Brain Stimulation for Movement Disorders: The Japanese Experience, Neuroscience Conference, Apr. 2010.
44.	Takashi Sakai, HoangNam Tran, Sun Mi Kim, Li Liu, Xichuan Teng, Yuji Shishido, Mukai-Sakai Rika, Mitsuru Matsumoto, Kazunori Ishimura, Yoshio Hayashi, Ryuji Kaji and Kiyoshi Fukui : Nucling, a novel stress-sensitive protein, regulates NF-kappa B activation, The 4th International Congress on Stress Responses in Biology and Medicine, The 4th Annual Meeting of the Biomedical Society for Stress Response, Sapporo, Oct. 2009.
45.	Yoshinori Nitta, Masatake Akutagawa, Takahiro Emoto, Toshiya Okahisa, Hiroshi Miyamoto, Yoshiaki Ohnishi, Shunya Nakane, Ryuji Kaji, Masaji Nishimura and Yohsuke Kinouchi : The possibility of the classification about Ht values using the AR model, Proceedings of 2009 World Congress on Medical Physics and Biomedical Engineering, Vol.25, No.7, 525-528, Munich, Sep. 2009.
46.	Yoshinori Nitta, Masatake Akutagawa, Takahiro Emoto, Toshiya Okahisa, Hiroshi Miyamoto, Yoshiaki Ohnishi, Masaji Nishimura, Shunya Nakane, Ryuji Kaji and Yohsuke Kinouchi : Investigation of a Classification about Time Series Signal Using SOM, The 13th International Conference on Biomedical Engineering, 598-601, Singapore, Dec. 2008.
47.	Takashi Sakai, Li Liu, Xichuan Teng, Naozumi Ishimaru, Rika Sakai, HoangNam Tran, Nobuya Sano, Yoshio Hayashi, Ryuji Kaji and Kiyoshi Fukui : Inflammatory disease and cancer with a decrease in Kupffer cell numbers in Nucling-konckout mouse, 20th FAOBMB Taipei Conference, Taipei, Oct. 2008.
48.	Yoshinori Nitta, Masatake Akutagawa, Toshiya Okahisa, Hiroshi Miyamoto, Yoshiaki Ohnishi, Shunya Nakane, Ryuji Kaji, Abhijit S. Pandya and Yohsuke Kinouchi : Analysis of hematocrit value during the plasma exchange, Proceedings of the Intenational Symposium on Biological and Physiological Engineering /The 22nd SICE Symposium on Biological and Physiological Engineering, 278-279, Harbin, Jan. 2008.
49.	Yoshinori Nitta, Masatake Akutagawa, Hiroshi Miyamoto, Toshiya Okahisa, Yoshiaki Ohnishi, Masaji Nishimura, Shunya Nakane, Ryuji Kaji and Yohsuke Kinouchi : Possibility of predicting Ht values during a plasma exchange therapy using back propagation neural network, Proceedings of 2006 World Congress on Medical Physics and Biomedical Engineering, Seoul, Korea, August 27-September 1, 2006, Vol.1, 1041-1044, Seoul, Aug. 2006. (Keyword) Guillain-Barre Syndrome / plasma exchange / hematocrit / Crit-Line Monitor / neural network
50.	Li Liu, Takashi Sakai, Xichuan Teng, Rika Mukai-Sakai, Ryuji Kaji and Kiyoshi Fukui : Nucling inhibits nuclear translocation and activation of NF-B through interaction with NF-B-p50, 20th IUBMB International Congress of Biochemistry and Molecular Biology and 11th FAOBMB Congress, Kyoto, Jun. 2006.
51.	Xichuan Teng, Takashi Sakai, Li Liu, Rika Sakai, Ryuji Kaji and Kiyoshi Fukui : Attenuation of MPTP-induced neurotoxicity and locomotor dysfunction in Nucling-deficient mice via suppression of the apoptosome pathway, 20th IUBMB International Congress of Biochemistry and Molecular Biology and 11th FAOBMB Congress, Kyoto, Jun. 2006.
52.	Takashi Sakai, Li Liu, Rika Mukai-Sakai, Nobuya Sano, Ryuji Kaji and Kiyoshi Fukui : Pro-inflammatory stress promotes carcinogenesis through NF-B-activation and inactivation pathway, 20th IUBMB International Congress of Biochemistry and Molecular Biology and 11th FAOBMB Congress, Kyoto, Jun. 2006.
53.	Satsuki Sumitani, Mami Matsushita, Kayoko Wada, Masahito Tomotake, Shu-ichi Ueno, Taketoshi Yamashita, Shinichi Matsumoto, Ryuji Kaji and Tetsuro Ohmori : Comparison of the temperament between obsessive-compulsive disorder and idiopathic dystonia, CINP, Paris, Jun. 2004.

Proceeding of Domestic Conference:

1.	橘このか, Ryosuke Miyamoto, 武藤浩平, 福本竜也, 山内翔葵, 中森正博, Ryuji Kaji, Hiroyuki Morino and Yuishin Izumi : 家族間で異なる表現型を呈したANO3ジストニアの1家系, 第114回日本神経学会中国・四国地方会, Dec. 2023.
2.	A Ikeda, M Funayama, M Yoshida, Y Li, H Yoshino, T Inoshita, K Shiba-Fukushima, H Meng, T Amo, I Aiba, Y Saito, N Atsuta, R Nakamura, G Tohnai, J Sone, Y Saito, S Murayama, Yuishin Izumi, Ryuji Kaji, M Morita, A Taniguchi, K Nishioka, Y Imai, G Sobue and N Hattori : Characterization of CHCHD2 variants linked to amyotrophic lateral sclerosis and Parkinsons disease, 第64回日本神経学会学術大会, May 2023.
3.	橘このか, Ryosuke Miyamoto, Hiroyuki Morino, 福本竜也, 松本真一, 目崎高広, 星野恭子, Koutaro Asanuma, Takashi Sakamoto, Ryuji Kaji, Yuishin Izumi and Consortium Dystonia Japan : Genetical and clinical features in a cohort of Japanese patients with dystonia, 第64回日本神経学会学術大会, May 2023.
4.	Ryoma Morigaki, Kazuhisa Miyake, Taku Matsuda, KOYAMA Hiroshi, Ryosuke Miyamoto, Yuishin Izumi, Masahito Nakataki, Ryuji Kaji, Satoshi Goto and Yasushi Takagi : Surgical Treatment for Combined Functional and Organic Dystonia, 第62回日本定位・機能神経外科学会, Jan. 2023.
5.	Satoshi Sakaguchi, 佐藤康敬, 石田光代, 前田和輝, 二見明香里, Kenta Yagi, 沖良祐, Koji Fujita, Hiroaki Yanagawa, Yuishin Izumi, Ryuji Kaji and Keisuke Ishizawa : 高用量メチルコバラミンの筋萎縮性側索硬化症に対する第III相試験の被験者及び家族におけるアンケート調査, 第43回日本臨床薬理学会学術総会, Nov. 2022.
6.	東原真奈, Hiroki Yamazaki, Yuishin Izumi, 大石知瑞子, Hiroyuki Nodera, 村山繁雄, Ryuji Kaji and 園生雅弘 : 遠隔電場電位CMAPはALSにおける信頼性の高い電気生理マーカーである, 日本臨床神経生理学会第52回学術大会, Nov. 2022.
7.	Yusuke Osaki, Hiroyuki Nodera, Hiroki Yamazaki, 高松直子, Ryuji Kaji and Yuishin Izumi : 誤診から学ぶ筋電図検査筋電図検査前の診断が困難な神経筋疾患同疾患3症例の提示, 日本臨床神経生理学会第52回学術大会, Nov. 2022.
8.	Yuishin Izumi, Naoko Matsui, Yohhei Yamamoto, 田中惠子, 雑賀玲子, 飯塚高浩, 松井真, Ryuji Kaji and 桑原聡 : 自己免疫疾患 Stiff-person症候群の全国調査, 第34回日本神経免疫学会学術集会, Oct. 2022.
9.	武藤浩平, Ryosuke Miyamoto, 沖良祐, Yoshimichi Miyazaki, 藤井大樹, 二宮伸介, 秋山倫之, Ryuji Kaji, Hiroyuki Morino and Yuishin Izumi : Geniospasm4, 第63回日本神経学会学術大会, May 2022.
10.	MUTO Kohei, Ryosuke Miyamoto, Ryosuke Oki, Yoshimichi Miyazaki, 藤井大樹, 二宮伸介, 秋山倫之, Ryuji Kaji, Hiroyuki Morino and Yuishin Izumi : 本邦におけるGeniospasmの4家系, 第63回日本神経学会学術大会, May 2022.
11.	M Higahibara, Hiroki Yamazaki, Yuishin Izumi, C Oishi, T Chiba, Hiroyuki Nodera, S Murayama, Ryuji Kaji and M Sonoo : Far-field potential of CMAP (FFP-CMAP) as a reliable neurophysiological marker in ALS, 第63回日本神経学会学術大会, May 2022.
12.	A Ikeda, M Funayama, M Yoshida, Y Li, T Inoshita, K Shiba-Fukushima, H Meng, T Amo, I Aiba, Y Saito, N Atsuta, R Nakamura, G Tohnai, J Sone, Yuishin Izumi, Ryuji Kaji, M Morita, A Taniguchi, K Nishioka, Y Imai, G Sobue, N Hattori and JaCALS : Two novel variants in CHCHD2 associate with TDP-43 pathology among amyotrophic lateral sclerosis, 第63回日本神経学会学術大会, May 2022.
13.	Ryosuke Oki, Yuishin Izumi, Koji Fujita, 佐藤康敬, 二見明香理, 前田和輝, Kenta Yagi, Satoshi Sakaguchi, Hiroaki Yanagawa, 桑原聡 and Ryuji Kaji : COVID-19流行下におけるALSを対象とした医師主導治験運営の取組み, 第62回日本神経学会学術大会, May 2021.
14.	Ryoma Morigaki, Hideo Mure, Taku Matsuda, Kazuhisa Miyake, Ryosuke Miyamoto, Koji Fujita, Masahito Nakataki, Ryuji Kaji, Yasushi Takagi and Satoshi Goto : 機能ー器質ボーダーラインジストニアに対する脳深部刺激療法, 第60回日本定位・機能神経外科学会, Jan. 2021.
15.	Hideo Mure, Ryoma Morigaki, 小山広士, Shinya Ohkita, Taku Matsuda, Wataru Sako, Ryosuke Miyamoto, Koji Fujita, Yuishin Izumi, Ryuji Kaji, Satoshi Goto and Yasushi Takagi : 遅発性ジストニアに対する淡蒼球内節刺激術12例の検討:適応・長期成績・刺激条件について, 第79回日本脳神経外科学会総会, Oct. 2020.
16.	Ryosuke Miyamoto, 黒田一駿, Hideo Mure, Ryoma Morigaki, Masahito Nakataki, Yusuke Osaki, Yuishin Izumi, Satoshi Goto and Ryuji Kaji : 18p-症候群に伴う全身性ジストニアに対し，GPi-DBSが効果的であった一例, 第61回日本神経学会学術大会, Aug. 2020.
17.	Ryosuke Miyamoto, Koji Fujita, Hideo Mure, Ryoma Morigaki, Masahito Nakataki, Yuishin Izumi, Satoshi Goto and Ryuji Kaji : ヒステリー性麻痺の臨床診断と電気生理心因性運動障害の診断心因性ジストニアを中心に, 第49回日本臨床神経生理学会学術大会, Nov. 2019.
18.	Toshitaka Kawarai and Ryuji Kaji : Clinical and Genetic analysis of patients with mixed movement disorders, 日本人類遺伝学会第64回大会, Nov. 2019.
19.	Yuishin Izumi, Ryosuke Oki, 桑原聡 and Ryuji Kaji : 神経変性疾患に対する医師主導治験とエビデンス構築筋萎縮性側索硬化症に対する医師主導治験, 第37回日本神経治療学会学術集会, Nov. 2019.
20.	Yohhei Yamamoto, Naoko Matsui, 織田史子, 小澤由希子, 金井哲也, 鵜沢顕之, Izumi Ohigashi, Hiroyuki Kondo, Kazuya Kondo, Tetsuya Kitagawa, 桑原聡, 山村隆, Yuishin Izumi and Ryuji Kaji : 重症筋無力症患者の胸腺におけるB細胞分画と濾胞性ヘルパーT細胞の解析, 第31回日本神経免疫学会学術集会, Vol.24, No.1, 140, Sep. 2019.
21.	Yohei Yamamoto, Naoko Matsui, Fumiko Oda, Yukiko Ozawa, Tetsuya Kanai, Akiyuki Uzawa, Izumi Ohigashi, Hiroyuki Kondo, Kazuya Kondo, Tetsuya Kitagawa, Takashi Yamamura, Satoshi Kuwabara, Yuishin Izumi and Ryuji Kaji : B cell subsets and T follicular helper cells in myasthenia gravis thymus, 第60回日本神経学会学術大会, May 2019.
22.	松原知康, 織田雅也, Toshitaka Kawarai, Ryuji Kaji and Yuishin Izumi : 徳島県・広島県における筋萎縮性側索硬化症診断の実証的研究, 第60回日本神経学会学術大会, May 2019.
23.	Toshitaka Kawarai, Ryosuke Miyamoto, Takashi Sakamoto, Yuishin Izumi and Ryuji Kaji : Reverse phenotyping of 64 cases of genetically confirmed combined/comp lex dystonia, 60th Annual Meeting of the Japanese Society of Neurology, May 2019.
24.	Fumio Hayashi, Toshinori Sakai, Koichi Sairyo, Ryosuke Miyamoto, Yuishin Izumi and Ryuji Kaji : 神経内科と脊椎外科の境界領域疾患診断に対する取り組み, 第132回中部日本整形外科災害外科学会学術集会, Apr. 2019.
25.	宮本憲哉, Mayo Kondou, Nobuhito Naitoh, Hiroki Yamazaki, Yuko Toyoda, Hirokazu Ogino, Hiroshi Kawano, Hisatsugu Goto, Ryuji Kaji and Yasuhiko Nishioka : 免疫介在性壊死性ミオパチーの1例, 第119回日本内科学会四国地方会, Dec. 2018.
26.	福本竜也, Ryosuke Miyamoto, 山﨑博輝, 村上永尚, Yusuke Osaki, Koji Fujita, Hiroyuki Nodera, Toshitaka Kawarai, Yuishin Izumi and Ryuji Kaji : 特異な歩行障害を呈したGerstmann-Straussler-Scheinker病の31歳男性, 第105回日本神経学会中国・四国地方会, Dec. 2018.
27.	高橋美和, Naoko Matsui, 石田光代, 岡本秀樹, 福田直也, 芝麗, 泉千恵, 河野綾, 桑内敬子, 井口和子, Yuishin Izumi, Ryuji Kaji and Shoji Kagami : 障がい者福祉からみた難病・小児慢性特定疾病支援におけるジレンマ, 第6回日本難病医療ネットワーク学会学術集会, Nov. 2018.
28.	高松直子, Hiroyuki Nodera, Toshitaka Kawarai, 山崎博輝, 森敦子, Yusuke Osaki, 垂髪祐樹, Yuishin Izumi and Ryuji Kaji : -PMP221, 第48回日本臨床神経生理学会学術大会, Nov. 2018.
29.	Hideo Mure, Ryosuke Miyamoto, Shinya Ohkita, Ryuji Kaji, Satoshi Goto, Shinji Nagahiro and Yasushi Takagi : 小児期ジストニアに対する脳深部刺激療法の適応と予後について, 日本脳神経外科学会第77回学術総会, Oct. 2018.
30.	Toshitaka Kawarai, Ryosuke Miyamoto, Takashi Sakamoto, Antonio Orlacchio, Yuishin Izumi and Ryuji Kaji : Molecular Epidemiology of Dystonia in Japan, The 63rd Annual Meeting of the Japan Society of Human Genetics, Oct. 2018.
31.	山上紘規, Sumiko Yoshida, 遠藤ふうり, 原倫世, 筒井康継, 桝田志保, Kiyoe Kurahashi, 明比祐子, Itsuro Endo, Ken-ichi Aihara, Yusuke Osaki, Ryuji Kaji, Yuichi Takashi, Masahiro Abe and Seiji Fukumoto : 壊死性ミオパチーを合併したX連鎖性低リン血症性くる病・骨軟化症の一例, 第18回日本内分泌学会四国支部学術集会, Sep. 2018.
32.	森あずさ, Nobuhito Naitoh, 山﨑博輝, 林理恵, 坂東紀子, 原田沙希, Hiroshi Kawano, Yuko Toyoda, Hisatsugu Goto, Ryuji Kaji, Yoshiaki Kubo and Yasuhiko Nishioka : 免疫介在性壊死性ミオパチーの1例, 第257回徳島医学会学術集会, Aug. 2018.
33.	Wataru Sako, Takashi Abe, Shotaro Haji, Nagahisa Murakami, Takahiro Furukawa, Yuishin Izumi, Masafumi Harada and Ryuji Kaji : Compensatory changes in the intra-cerebellar connections in Parkinson disease and multiple system atrophy, 第41回日本神経科学大会, Jul. 2018.
34.	Kyoko Hoshino, Toshitaka Kawarai, Masaharu Hayashi, Kazue Kimura, Yuri Nagao, Michio Fukumizu, Ryosuke Miyamoto and Ryuji Kaji : Sudden onset of dystonia of mouth and arm with EEG abnormality; 17-years-old male, 第12回パーキンソン病・運動障害疾患コングレス, Jul. 2018.
35.	Toshitaka Kawarai, Ryosuke Miyamoto and Ryuji Kaji : Lesser motor disability from adolescence to adulthood: a nine-year follow-up of a patient with dyskinesia, 第12回パーキンソン病・運動障害疾患コングレス, Jul. 2018.
36.	Yuishin Izumi, 高田忠幸, Ryosuke Miyamoto, Toshitaka Kawarai, Hiroyuki Nodera, 村山繁雄 and Ryuji Kaji : subclinicalレビー小体病を合併した筋萎縮性側索硬化症の1例, 第104回日本神経学会中国・四国地方会, Jun. 2018.
37.	Wataru Sako, Takashi Abe, 土師正太郎, 村上永尚, 古川貴大, 和泉唯信, Masafumi Harada and Ryuji Kaji : Graph Theoryによるパーキンソン病・多系統萎縮症の小脳を中心としたネットワーク解析, 第59回日本神経学会学術大会, May 2018.
38.	Yamamoto Yohhei, Naoko Matsui, Kazuya Kondo, Izumi Ohigashi, Yousuke Takahama, Nakagawa Hidewaki, Yuishin Izumi and Ryuji Kaji : Analysis of human thymic epithelial cells, 第59回日本神経学会学術大会, May 2018.
39.	Toshitaka Kawarai, Ryosuke Miyamoto, Takashi Sakamoto, Yuishin Izumi and Ryuji Kaji : Cohort profile of the Japan Dystonia Consortium:Molecular Epidemiology of Dystonia in Japan, 59th Annual Meeting of the Japanese Society of Neurology, May 2018.
40.	Kenji Shono, Junichiro Satomi, Yoshiteru Tada, Yasuhisa Kanematsu, Nobuaki Yamamoto, Yuishin Izumi, Ryuji Kaji, Masafumi Harada, Shinji Nagahiro and Yasushi Takagi : Optimal timing of DWI to avoid false-negative findings in patients with TIA, 第41回日本脳神経CI学会総会, Mar. 2018.
41.	星野恭子, 林雅晴, 木村一恵, 長尾ゆり, 福水道郎, Toshitaka Kawarai and Ryuji Kaji : ATP1A3Rapid-onset dystonia-parkinsonism (DYT12) 17, 第68回日本小児神経学会関東地方会, Mar. 2018.
42.	黒田一駿, Ryosuke Miyamoto, 村上永尚, Toshitaka Kawarai, Yuishin Izumi and Ryuji Kaji : 長期間経過観察しえたchoreaとmyoclonusを含む不随意運動症例, 第105回日本神経学会中国・四国地方会, Feb. 2018.
43.	Hideo Mure, Ryoma Morigaki, Ryosuke Miyamoto, Masahito Nakataki, Yasushi Takagi, Ryuji Kaji, Shinji Nagahiro and Satoshi Goto : ジストニアDBS治療における多職種連携．, 第57回日本定位・機能神経外科学会, Jan. 2018.
44.	Hideo Mure, Ryoma Morigaki, Ryosuke Miyamoto, Masahito Nakataki, 岡久哲也, Yasushi Takagi, Ryuji Kaji, Shinji Nagahiro and Satoshi Goto : ジストニアDBS治療における多職種連携, 第57回日本定位・機能神経外科学会, Jan. 2018.
45.	Hideo Mure, Ryoma Morigaki, Ryosuke Miyamoto, Masahito Nakataki, Junichiro Satomi, Ryuji Kaji, Satoshi Goto and Shinji Nagahiro : ジストニアDBS治療におけるチーム医療の重要性 -徳島大学での取り組み-, 日本脳神経外科学会第76回学術総会, Oct. 2017.
46.	山上圭, Takahiro Furukawa, Nagahisa Murakami, Naoko Matsui, Yuishin Izumi and Ryuji Kaji : 未治療の全身性サルコイドーシスに合併した進行性多巣性白質脳症, 第22回日本神経感染症学会, Oct. 2017.
47.	Naoko Matsui, Izumi Ohigashi, Myn Muhammad Uddin, Kaito Sasaka, Yohhei Yamamoto, Takahiro Furukawa, Kazuya Kondo, 中川英刀, Ryuji Kaji and Yousuke Takahama : ヒト胸腺を用いた胸腺上皮細胞の解析, 第29回日本神経免疫学会学術集会, Oct. 2017.
48.	Yohhei Yamamoto, Naoko Matsui, 鵜沢顕之, Kaito Sasaka, Takahiro Furukawa, Kazuya Kondo, Tetsuya Kitagawa, 桑原聡, 山村隆 and Ryuji Kaji : MG患者の胸腺と末梢血におけるB細胞の解析, 第29回日本神経免疫学会学術集会, Oct. 2017.
49.	高橋美和, Naoko Matsui, 石田光代, 桑内敬子, 鈴木察子, Shoji Kagami, Yuishin Izumi and Ryuji Kaji : 障がい者福祉からみた難病・小児慢性特定疾病の実態調査, 第5回日本難病医療ネットワーク学会学術集会, Sep. 2017.
50.	Naoko Matsui, Izumi Ohigashi, Yamamoto Yohei, Kazuya Kondo, Yousuke Takahama and Ryuji Kaji : Approach for analysis of human thymic epithelial cells, XX World Congress of Neurology, Sep. 2017.
51.	Hanada Kenta, Naoko Matsui, Hiroyuki Nodera, Kuzume Daisuke, Kenta Sato, Iwasa Naoki, Unai Yuki, Saka Waka, Yoshimichi Miyazaki, Yamazaki Hiroki, Yusuke Osaki, Takahiro Furukawa, Yamasaki Masahiro, Yuishin Izumi, Kusunoki Susumu, Kokichi Arisawa and Ryuji Kaji : Guillain-Barre syndrome in a local area in Japan, 2006-2015: An epidemiological and clinical study of 108 patients, XX World Congress of Neurology, Sep. 2017.
52.	Wataru Sako, Takashi Abe, Yuishin Izumi, Naoko Matsui, Masafumi Harada and Ryuji Kaji : The local neuronal activity associated with GABA in amyotrophic lateral sclerosis, 第40回日本神経科学大会, Jul. 2017.
53.	Masashi Kawabata, Shusuke Numata, Masatoshi Inoshita, 江戸宏彰, 垂髪裕樹, Ryuji Kaji and Tetsuro Ohmori : 血液透析による体内リチウム除去後も神経症状が在存した急性リチウム中毒の一例, 第113回日本精神神経学会学術総会, Jun. 2017.
54.	Mayo Kondoh, Toshifumi Tezuka, Hiroshi Kawano, Hisatsugu Goto, Jun Kishi, Masaki Hanibuchi, Masahiko Azuma, 土師正太郎, Ryuji Kaji and Yasuhiko Nishioka : 小脳浮腫および水頭症を認め開頭減圧術を要したNPSLEの1例, 第116回日本内科学会四国地方会, May 2017.
55.	Nobuaki Yamamoto, Yuishin Izumi, Ryuji Kaji, Junichiro Satomi and Shinji Nagahiro : Usefulness of 3-tesla magnetic resonance arterial spin-labeled imaging for diagnosis of cranial dural arteriovenous fistula, 日本脳卒中学会学術集会, Mar. 2017.
56.	Junichiro Satomi, Yoshiteru Tada, Nobuaki Yamamoto, Ryuji Kaji, Masafumi Harada and Shinji Nagahiro : 超急性期脳梗塞に必要な画像診断:Stroke MRI用, 第42回日本脳卒中学会学術集会, Mar. 2017.
57.	Ryuji Kaji, Hiroyuki Nodera, 十川和樹, 高松直子 and Naoko Matsui : テクスチャ解析による筋エコーでのIBM類似疾患との鑑別, 稀少難治性筋疾患に関する調査研究班「IBM分科会」(平成28年度), Feb. 2017.
58.	Yoshiteru Tada, Nobuaki Yamamoto, Ryuji Kaji, Masafumi Harada and Shinji Nagahiro : 超急性期脳梗塞に必要な画像診断:Stroke MRI, 第42回日本脳卒中学会学術集会, Feb. 2017.
59.	Naoko Matsui, Takahiro Furukawa, 田中惠子 and Ryuji Kaji : スティッフパーソン症候群の診断および重症度分類のための調査, 厚生労働省難治性疾患(神経免疫疾患)政策および実用化研究班平成28年度合同班会議, 31-32, Jan. 2017.
60.	山本雄貴, Nobuaki Yamamoto, Yuishin Izumi, Ryuji Kaji, 山口泉, 吉岡正太郎, Tomoya Kinouchi, Yasuhisa Kanematsu, Junichiro Satomi and Shinji Nagahiro : 超高齢者に対する急性血行再建治療, 第32回NPO法人日本脳神経血管内治療学会学術総会, Nov. 2016.
61.	Nobuaki Yamamoto, 山本雄輝, Yuishin Izumi, Ryuji Kaji, 山口泉, Tomoya Kinouchi, Yasuhisa Kanematsu, Junichiro Satomi and Shinji Nagahiro : ASLのCranial Dural Arteriovenous Fistula 診断における有用性, 第32回NPO法人日本脳神経血管内治療学会学術総会, Nov. 2016.
62.	Masashi Kawabata, Masatoshi Inoshita, 江戸宏彰, 垂髪裕樹, Shusuke Numata, Ryuji Kaji and Tetsuro Ohmori : 血液透析による体内リチウム除去後も神経症状が残存した急性リチウム中毒の一例, 第57回中国・四国精神神経学会, Nov. 2016.
63.	石田光代, Naoko Matsui, 高橋美和, 杉原治美, Yuishin Izumi, 西田喜彦 and Ryuji Kaji : 就労可能な難病患者における共通特性の検討, 第4回日本難病医療ネットワーク学会学術集会, 113, Nov. 2016.
64.	Naoko Matsui, Hiroki Yamazaki, Shingen Nakamura, Yuishin Izumi, 中道一生, 西條政幸 and Ryuji Kaji : 非HIV関連進行性多巣性白質脳症の3例, 第21回日本神経感染症学会, 228, Oct. 2016.
65.	Yoshiteru Tada, Nobuaki Yamamoto, 藤原敏孝, Kohhei Nakajima, 香川幸太, 片桐匡弥, 飯田幸治, Ryuji Kaji and Shinji Nagahiro : 自己免疫性介在性脳炎後の難治性てんかんの1例, 第50回日本てんかん学会学術集会, Oct. 2016.
66.	武藤浩平, Naoko Matsui, 垂髪祐樹, Waka Sakai, Takahiro Furukawa and Ryuji Kaji : 難治性の抗アセチルコリン受容体抗体陽性重症筋無力症に対するrituximabの使用経験, 第28回日本神経免疫学会学術集会, 116, Sep. 2016.
67.	Masaki Kamada, Shunya Nakane, Naoko Matsui, 樋口理, Waka Sakai, Koji Fujita, Yuishin Izumi, 松尾秀徳 and Ryuji Kaji : 抗MuSK抗体陽性の眼筋型重症筋無力症, 第28回日本神経免疫学会学術集会, 172, Sep. 2016.
68.	Naoko Matsui, 岩佐直毅, Yoshimichi Miyazaki, Waka Sakai, Takahiro Furukawa, 垂髪祐樹, Hiroki Yamazaki, Yusuke Ohsaki, Hiroyuki Nodera, 葛目大輔, 山崎正博, 楠進 and Ryuji Kaji : 軸索型のギラン・バレー症候群とフィッシャー症候群は春から夏にかけて発症しやすい, 第28回日本神経免疫学会学術集会, 160, Sep. 2016.
69.	高橋拓, 垂髪祐樹, Hiroki Yamazaki, Takahiro Furukawa, Nobuaki Yamamoto, Naoko Matsui, Yuishin Izumi and Ryuji Kaji : 発作性心房細動，心筋症を合併した抗ミトコンドリア抗体陽性筋炎の一例, 第100回日本神経学会中国四国地方会, 73, Jun. 2016.
70.	山本雄貴, Naoko Matsui, 平松有, 垂髪祐樹, 大崎裕亮, Yoshimichi Miyazaki, Hiroyuki Nodera, 西野一三, Yuishin Izumi, 高嶋博 and Ryuji Kaji : 末梢神経障害が目立ち，診断に苦慮した遅発型三頭酵素欠損症の60歳男性例, 第100回日本神経学会中国四国地方会, 47, Jun. 2016.
71.	武藤浩平, Naoko Matsui, 垂髪祐樹, 酒井和香, 古川貴大 and Ryuji Kaji : 難治性の抗アセチルコリン受容体抗体陽性重症筋無力症に対するrituximabの使用経験, 第57日本神経学会学術大会, 363, May 2016.
72.	金喜栄, Naoko Matsui, Izumi Ohigashi, 古川貴大, Yousuke Takahama and Ryuji Kaji : ヒト胸腺を用いた胸腺上皮細胞解析への試み, 第57日本神経学会学術大会, 367, May 2016.
73.	杉原治美, Naoko Matsui, 岡本秀樹, 井口和子, 鈴木察子, Yuishin Izumi and Ryuji Kaji : 神経難病における支援ネットワークつくりー大学病院の立場から, 第57回日本神経学会学術大会, 395, May 2016.
74.	Toshitaka Kawarai, Fujita Koji, Yuishin Izumi, Yoshida Mari and Ryuji Kaji : Clinicopathological features of HMSN-P in the Kansai area of Japan, The 57th Annual Meeting of the Japanese Society of Neurology, May 2016. (Keyword) HMSN-P
75.	Oki Ryosuke, Tanabe Akie, Toshitaka Kawarai, Oka Nobuyuki, Yuishin Izumi and Ryuji Kaji : Animal model of HMSN-P, The 57th Annual Meeting of the Japanese Society of Neurology, May 2016. (Keyword) HMSN-P
76.	Yoshimichi Miyazaki, Ryosuke Miyamoto, Toshitaka Kawarai and Ryuji Kaji : 遺伝性ジストニア, 第57回日本神経学会学術大会, May 2016. (Keyword) 遺伝性ジストニア
77.	Naoko Matsui, Hiroyuki Nodera, 高松直子, Yuka Terasawa, 森敦子, Yoshimitsu Shimatani, 大崎裕亮, 丸山サラデイーニ恵子, Yuishin Izumi and Ryuji Kaji : 下腿三頭筋におけるエコー輝度の解離は封入体筋炎に特徴的である, 第57日本神経学会学術大会, 657, May 2016.
78.	石田光代, Naoko Matsui, 橋口修二, Yuishin Izumi, 西田喜彦 and Ryuji Kaji : 徳島難病患者における就労状況の現状と課題, 第57日本神経学会学術大会, 675, May 2016.
79.	古川貴大, Naoko Matsui, Ryosuke Miyamoto, Wataru Sako, Nobuaki Yamamoto, Yuishin Izumi, 高橋幸利 and Ryuji Kaji : 成人発症の片側大脳萎縮症の臨床像の検討, 第57日本神経学会学術大会, 639, May 2016.
80.	Yoshimichi Miyazaki, Naoko Matsui and Ryuji Kaji : 免疫性ニューロパチーにおけるIVIg前後の血清IgG値の変動, 第57回日本神経学会学術大会, 592, May 2016.
81.	Shinya Ohkita, Ryoma Morigaki, Hideo Mure, Yasuhisa Kanematsu, 宮本亮介, Shinji Nagahiro, Ryuji Kaji, Satoshi Goto, 亘雄也, 谷口秀和, 夫敬憲 and 中川義信 : 脳性麻痺に合併した全身性ジストニアに対し脳深部刺激術を施行した1例, 第55回日本定位・機能神経外科学会, Jan. 2016.
82.	Hideo Mure, Ryoma Morigaki, Shinya Ohkita, 小泉英期, Shinji Nagahiro, Ryuji Kaji and Satoshi Goto : ジストニアに対するDBS-淡蒼球刺激と視床刺激の併用-, 第55回日本定位・機能神経外科学会, Jan. 2016.
83.	Ryoma Morigaki, 宮本亮介, Shinya Ohkita, Yoshifumi Mizobuchi, Hideo Mure, Shinji Nagahiro, Ryuji Kaji and Satoshi Goto : Distribution patterns and functional roles of nuclear factor kappa b in the mouse striatum, 第55回日本定位・機能神経外科学会, Jan. 2016.
84.	Ryoma Morigaki, Satoshi Goto and Ryuji Kaji : Neuropathology of X-linked dystonia parkinsonism, Clinical Neurology, Vol.56, s111, 2016.
85.	山上圭, Yuishin Izumi, 内野彰子, 武藤浩平, 梶誠兒, Ryosuke Miyamoto, Toshitaka Kawarai, 村山繁雄 and Ryuji Kaji : 補助呼吸なしに22年生存した筋萎縮性側索硬化症の男性例, 第111回日本神経病理学会関東地方会, Dec. 2015.
86.	Toshitaka Kawarai, Ryosuke Miyamoto, Yoshimitsu Shimatani, Oki Ryosuke, Orlacchio Antonio, Yuishin Izumi, Nishida Yoshihiko, Adachi Katsuhiko and Ryuji Kaji : Three sibships showing various involuntary movements by a novel homozygous STUB1 gene mutation., 60th Annual Meeting of the Japan Society of Human Genetics, Dec. 2015.
87.	沖良祐, Toshitaka Kawarai, Ryosuke Miyamoto, 森敦子, 塚本愛, Naoko Matsui, Yoshimichi Miyazaki, Yuishin Izumi, 西田善彦 and Ryuji Kaji : 30歳を過ぎて痙性対麻痺および痙性構音障害が顕在化した新規SPG11変異を持つ同胞例, 第99回日本神経学会中国・四国地方会, Dec. 2015.
88.	Nobuaki Yamamoto, Yuishin Izumi, Ryuji Kaji, 曽我部周, 吉岡正太郎, Kazuyuki Kuwayama, Junichiro Satomi and Shinji Nagahiro : 主幹動脈閉塞患者における急性血行再建成功例における予後規定因子, 第31回NPO法人日本脳神経血管内治療学会学術総会, Nov. 2015.
89.	Yuishin Izumi, 隅蔵大幸, 織田雅也, Toshitaka Kawarai, 長谷川成人, Ryuji Kaji and 村山繁雄 : 半年間で急激な側頭葉萎縮を呈した広汎型筋萎縮性側索硬化症の1剖検例, 第43回臨床神経病理懇話会・第12回日本神経病理学会近畿地方会, Nov. 2015.
90.	大崎裕亮, Hiroyuki Nodera, Yuishin Izumi, 沖良祐, Ryosuke Miyamoto, Toshitaka Kawarai, 川上秀史 and Ryuji Kaji : 兒 spinocerebellar ataxia type 6 患者の末梢神経は軸索膜のslow K+ current増加を示す, 第45回日本臨牀生理学会学術大会, Nov. 2015.
91.	Wataru Sako, Takashi Abe, Masafumi Harada, Yuishin Izumi and Ryuji Kaji : 筋萎縮性側索硬化症における低周波帯域の安静時脳機能MRI信号変化, 第45回日本臨床神経生理学会学術大会, Nov. 2015.
92.	Ryoma Morigaki, Shinya Ohkita, Hideo Mure, Yoshifumi Mizobuchi, Satoshi Goto, Ryuji Kaji and Shinji Nagahiro : Nuclear factor kappa bはマウス脳線条体においてドパミンシグナル支配下に機能する, 一般社団法人日本脳神経外科学会第74回学術総会, Oct. 2015.
93.	Hideo Mure, Ryoma Morigaki, Shinya Ohkita, Ryuji Kaji, Wataru Sako, Satoshi Goto and Shinji Nagahiro : Meige症候群に対する両側淡蒼球内節刺激術, 一般社団法人日本脳神経外科学会第74回学術総会, Oct. 2015.
94.	Wataru Sako, 村上永尚, Yoshimichi Miyazaki, Takashi Abe, Masafumi Harada, Yuishin Izumi and Ryuji Kaji : パーキンソン病における振戦発症の中小脳脚への影響, 第9回パーキンソン病・運動障害疾患コングレス, Oct. 2015.
95.	Yoshimichi Miyazaki, 上原康三, 西田善彦, Yuishin Izumi and Ryuji Kaji : 高齢筋萎縮性側索硬化症患者で長期経管栄養中に発症した，銅欠乏性貧血・顆粒球減少症の1例, Japanese Journal of Geriatrics, Vol.52, No.4, 454-455, Oct. 2015.
96.	Yoshimichi Miyazaki, 宮本亮介, Nobuaki Yamamoto, Yuishin Izumi and Ryuji Kaji : パーキンソン病患者における運動/非運動合併症の誘発危険因子の検討, パーキンソン病・運動障害疾患コングレスプログラム・抄録集, 100, Oct. 2015. (Keyword) 危険因子幻覚(病因) 振戦(病因) *Parkinson病(合併症) 妄想(病因) ヒト
97.	Naoko Matsui, 酒井和香, 古川貴大, Yuishin Izumi and Ryuji Kaji : 後期発症MGの臨床像, 神経免疫学, Vol.20, No.1, 140, Sep. 2015.
98.	古川貴大, Naoko Matsui, 高橋利幸, Naozumi Ishimaru and Ryuji Kaji : 耳下腺炎後に視神経や脊髄以外に広範な白質病変を来し，抗AQP4抗体が陽性であったシェーグレン症候群の1例, 神経免疫学, Vol.20, No.1, 114, Sep. 2015.
99.	Naoko Matsui, Yoshimichi Miyazaki, 大崎裕亮, Ai Miyashiro, 森敦子, 丸山恵子, Yoshimitsu Shimatani, Koji Fujita, Hiroyuki Nodera and Ryuji Kaji : ギラン・バレー症候群に対するIVIg前後の血清IgG値の変動と治療効果, 第26回日本神経免疫学会学術集会, Sep. 2015.
100.	Ryoma Morigaki, Shinya Ohkita, Yoshifumi Mizobuchi, Hideo Mure, Shinji Nagahiro, Ryuji Kaji and Satoshi Goto : マウス脳線条体におけるNuclear factor kappa bの機能的分子としての可能性, 第16回日本分子脳神経外科学会, Aug. 2015.
101.	Wataru Sako, Murakami Nagahisa, Yoshimichi Miyazaki, Takashi Abe, Masafumi Harada, Yuishin Izumi and Ryuji Kaji : The effect of tremor onset on middle cerebellar peduncle of Parkinsons disease, 第38回日本神経科学大会, Jul. 2015.
102.	野田和克, 山崎博輝, Naoko Matsui, 塚本愛, 中道一生, Yuishin Izumi and Ryuji Kaji : 治療が奏功した非HIV関連進行性多巣性白質脳症の2例, 第98回日本神経学会中国・四国地方会, Jun. 2015.
103.	Nobuaki Yamamoto, Junichiro Satomi, Masafumi Harada, Yoshiteru Tada, Shinji Nagahiro and Ryuji Kaji : Is the susceptibility vessel sign on 3-tesla magnetic resonance T2*-weighted imaging a useful tool to predict recanalization?, 第2回日本心血管脳卒中学術総会 2015, Jun. 2015.
104.	Yuishin Izumi, 塚本愛, 澤村正典, Nobuaki Yamamoto, 織田雅也, Hirohisa Ogawa, Toshitaka Kawarai, Masataka Sata, 宇高不可思 and Ryuji Kaji : たこつぼ型心筋症を合併した筋萎縮性側索硬化症の2例, 第2回日本心血管脳卒中学会学術集会, Jun. 2015.
105.	Nobuaki Yamamoto, Yoshiteru Tada, Junichiro Satomi, Yuishin Izumi, Masafumi Harada, Shinji Nagahiro and Ryuji Kaji : The two-layered susceptibility vessel sign on 3-tesla T2*-weighted imaging is a predictive biomarker of stroke subtype, 2015年心血管脳卒中学術総会, Jun. 2015.
106.	山下雄也, 山崎博輝, Yoshimichi Miyazaki, 塚本愛, Naoko Matsui, Yuishin Izumi, Ryuji Kaji, 西田善彦 and 鈴木重明 : 免疫治療が著効した抗SRP抗体陽性ミオパチーの1例, 第112回日本内科学会四国地方会, Jun. 2015.
107.	大崎裕亮, Ryosuke Miyamoto, Hiroyuki Nodera, Toshitaka Kawarai, Yuishin Izumi and Ryuji Kaji : 中年期に発症し重症度に性差を認めたdistal hereditary motor neuropathy家系の臨床遺伝学的検討, 第56回日本神経学会学術大会, May 2015.
108.	沖良祐, 大崎裕亮, Ryosuke Miyamoto, Wataru Sako, Hiroyuki Nodera, Toshitaka Kawarai, Yuishin Izumi and Ryuji Kaji : SCA14(L121P)1, 第56回日本神経学会学術大会, May 2015.
109.	Yuishin Izumi, 隅蔵大幸, 宇髙不可思, 武内俊明, Koji Fujita, Hiroyuki Nodera, Toshitaka Kawarai, 村山繁雄 and Ryuji Kaji : 進行性核上性麻痺が先行した筋萎縮性側索硬化症2例の臨床病理学的検討, 第56回日本神経学会学術大会, May 2015.
110.	Yoshimichi Miyazaki, Ryosuke Miyamoto, 小泉英貴, Toshitaka Kawarai and Ryuji Kaji : 第56回日本神経学会学術大会, May 2015.
111.	Ryosuke Miyamoto, Toshitaka Kawarai, Oki Ryosuke, Kaji Seiji, Yoshimichi Miyazaki, Yuishin Izumi and Ryuji Kaji : A Japanses family of hereditary geniospasm (chin trembling)., 56th Annual Meeting of the Japanese Society of Neurology, May 2015.
112.	Kaji Seiji, Toshitaka Kawarai, Oki Ryosuke, Osaki Yusuke, Ryosuke Miyamoto, Wataru Sako, Yuishin Izumi and Ryuji Kaji : Hereditary Diffuse Leukoencephalopathy with Spheroids: A Hidden Culprit., 56th Annual Meeting of the Japanese Society of Neurology, May 2015.
113.	Toshitaka Kawarai, Ryosuke Miyamoto, Tamura Asako, Takashi Abe, Funakoshi Yasuhiro, Orlacchio Antonio, Oki Ryosuke, Hideo Mure, Ryoma Morigaki, Satoshi Goto, Yuishin Izumi, Naito Hiroshi, Tomimoto Hidekazu and Ryuji Kaji : Germline mosaicism of TUBB4A mutation causes dystonia in two siblings., 56th Annual Meeting of the Japanese Society of Neurology, May 2015.
114.	古川貴大, Naoko Matsui, Ai Miyashiro, Hiroyuki Nodera, Koji Fujita, 清水文祟, 宮本勝一, 高橋幸利, 神田隆, 楠進 and Ryuji Kaji : MMNのサイトカイン・ケモカインプロファイル, 第56日本神経学会学術大会, May 2015.
115.	Naoko Matsui, Waka Sakai, Takahiro Furukawa, Takako Matsuoka, Masakazu Nakamura, Toshimasa Aranami, Kazuya Kondo, Tetsuya Kitagawa, Yousuke Takahama, Takashi Yamamura and Ryuji Kaji : B cell analysis in human thymus, 第56日本神経学会学術大会, May 2015.
116.	Oki Ryosuke, Kaji Seiji, Osaki Ryosuke, Ryosuke Miyamoto, Nobuaki Yamamoto, Fujita Koji, Toshitaka Kawarai, Yuishin Izumi and Ryuji Kaji : Clinical feature of hereditary diffuse leukoencephalopathy with spheroids (HDLS) in Japan., The 40th Annual Meeting of the Japan Stroke Society., Mar. 2015.
117.	Nobuaki Yamamoto, Yuka Terasawa, 酒井和香, Yuishin Izumi, Ryuji Kaji, Junichiro Satomi, Shinji Nagahiro and Masafumi Harada : Small vessel occlusion患者の神経症状増悪の予測因子, 第40回日本脳卒中学会総会, Mar. 2015.
118.	Shinya Ohkita, Ryoma Morigaki, Hideo Mure, 松田拓, Shinji Nagahiro, Satoshi Goto and Ryuji Kaji : Hypomyelination with atrophy of the basal ganglia and cerebellumに対し脳深部刺激術を施行した1例, 第54回日本定位・機能神経外科学会, Jan. 2015.
119.	Hideo Mure, Shinya Ohkita, Shinji Nagahiro, Ryoma Morigaki, Satoshi Goto, Wataru Sako and Ryuji Kaji : Meige症候群に対するGPi-DBS, 第54回日本定位・機能神経外科学会, Jan. 2015.
120.	武藤浩平, 酒井和香, Naoko Matsui, 沖良祐, 梶誠兒, 武内俊明, 丸山恵子, 大崎裕亮, Nobuaki Yamamoto, Ai Miyashiro, Hiroyuki Nodera, 樋口理, Yuishin Izumi and Ryuji Kaji : 当初ALSを疑われた高齢発症抗MuSK抗体陽性MGの一例, 第97回日本神経学会中国・四国地方会, Dec. 2014.
121.	Nobuaki Yamamoto, Yuishin Izumi, Ryuji Kaji, Junichiro Satomi, Yoshiteru Tada and Shinji Nagahiro : 頸動脈ステント留置後のIn stent plaqueの予測因子, 第30回日本脳神経血管内治療学術総会, Dec. 2014.
122.	Nobuaki Yamamoto, Yuishin Izumi, Ryuji Kaji, Sogabe Syu, Yoshiteru Tada, Kazuyuki Kuwayama, Junichiro Satomi and Shinji Nagahiro : The high-intense signal on maximum intensity projection images (MIP) of time-of-flight (TOF) magnetic resonance angiography (MRA) can be a predictor of plaque-in-stent after carotid artery stenting, 2014年脳血管内治療学会総会, Dec. 2014.
123.	竹内俊明, 宮本亮介, 大崎裕亮, Nobuaki Yamamoto, Koji Fujita, Naoko Matsui, Yuishin Izumi and Ryuji Kaji : 弛緩性麻痺と不随意運動を呈した日本脳炎の一例, 第111回日本内科学会四国地方会, Nov. 2014.
124.	Shinji Nagahiro, Junichiro Satomi, Kazuyuki Kuwayama, 曽我部周, Nobuaki Yamamoto, Yuishin Izumi and Ryuji Kaji : Floating thrombus を認め，進行性の経過を呈した頸動脈高度狭窄の1例, 第16回中国四国脳卒中研究会, Sep. 2014.
125.	沖良祐, Koji Fujita, Naoko Matsui, 村上永尚, 宮本亮介, Yoshimichi Miyazaki, Yuishin Izumi and Ryuji Kaji : 高齢発症破傷風例の治療経験を通じた本邦破傷風診療に関する提言, 第19回日本神経感染症学会総会, Sep. 2014.
126.	田邉彬恵, 山村行生, Jiro Kasahara, Ryoma Morigaki, Ryuji Kaji and Satoshi Goto : MPTPマウスモデルにおける線条体c-Ablチロシンキナーゼを標的としたパーキンソン病治療研究, 第18回活性アミンに関するワークショップ, Aug. 2014.
127.	大崎裕亮, Naoko Matsui, 葛目大輔, Koji Fujita, Hiroyuki Nodera, 尾本雅俊, 海田賢一, Yuishin Izumi, 神田隆 and Ryuji Kaji : 抗Neurofascin抗体陽性Lewis-Sumner症候群の1例, 第96回日本神経学会中国・四国地方会, Jun. 2014.
128.	Naoko Matsui, 古川貴大 and Ryuji Kaji : 重症筋無力症患者の過形成胸腺ではハッサル小体が増加している, 第55回日本神経学会学術大会, May 2014.
129.	橋口修二, 足立克仁, 川村和之, 有井敬治, Takao Mitsui, 乾俊夫, 岡田稔子, Noriko Kagawa, Koji Fujita and Ryuji Kaji : Creutzfeldt-Jacob病の剖検例の検討 -大脳皮質のMRI拡散強調画像と病理所見ー, 第55回日本神経学会学術大会, May 2014.
130.	Jiro Kasahara, 山村行生, 田邉彬恵, Ryoma Morigaki, Ryuji Kaji and Satoshi Goto : MPTP誘発パーキンソン病モデルマウスにおけるc-Abl阻害薬の薬効評価, 第21回カテコールアミンと神経疾患研究会, Apr. 2014.
131.	Nobuaki Yamamoto, Yuka Terasawa, Koji Fujita, Yuishin Izumi, Ryuji Kaji, Ryoma Morigaki, Yoshiteru Tada, Junichiro Satomi and Shinji Nagahiro : 急性期虚血性脳卒中患者のT2*強調画像所見とその変化, 2014年脳卒中学会総会, Mar. 2014.
132.	Nobuaki Yamamoto, Junichiro Satomi, Yuka Terasawa, Sogabe Syu, Kohhei Nakajima, Yasuhito Sato, Bando Kazuhiko, Agawa Masahito, Asano Noboru, Hondo Hideki, Yuishin Izumi, Ryuji Kaji and Shinji Nagahiro : 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, 2014年脳卒中学会総会, Mar. 2014.
133.	山本伸昭, Yuka Terasawa, Koji Fujita, Yuishin Izumi, Ryuji Kaji, Ryoma Morigaki, Yoshiteru Tada, Junichiro Satomi and Shinji Nagahiro : 急性期虚血性脳卒中患者のT2*強調画像所見とその変化, 第39回日本脳卒中学会総会, Mar. 2014.
134.	Naoko Matsui, 酒井和香, Yuishin Izumi, 西田善彦 and Ryuji Kaji : 老年発症重症筋無力症の治療戦略, 第25回日本老年医学会四国地方会, Feb. 2014.
135.	山本伸昭, Yuka Terasawa, Koji Fujita, Yuishin Izumi, Ryuji Kaji, Ryoma Morigaki, Junichiro Satomi, Shinji Nagahiro and Masafumi Harada : 主幹動脈閉塞に伴う虚血性脳卒中における3T-MR T2*-weighted image所見とその変化, 第16回徳島脳卒中研究会, Feb. 2014.
136.	大北真哉, Hideo Mure, Yoshifumi Mizobuchi, Shinji Nagahiro, Ryoma Morigaki, Satoshi Goto, 宮本亮介, 山本伸昭 and Ryuji Kaji : 高インスリン血性高アンモニア血性症候群に合併した全身性ジストニアに対し，脳深部刺激術を施行した1例, 第53回日本定位・機能神経外科学会, Feb. 2014.
137.	Ryoma Morigaki, 小泉英貴, Hideo Mure, 大北真哉, Yoshifumi Mizobuchi, Shinji Nagahiro, Ryuji Kaji, Satoshi Goto and Toshitaka Kawarai : X-linked dystonia-parkinsonismのニューロペプタイドYシステム, 第53回日本定位・機能神経外科学会, Feb. 2014.
138.	Hideo Mure, Ryoma Morigaki, 大北真哉, Shinji Nagahiro, Satoshi Goto, 小泉英貴 and Ryuji Kaji : ジストニックストームにおける治療法の検討-4例の自験例と文献的考察-, 第53回日本定位・機能神経外科学会, Feb. 2014.
139.	Yoshimichi Miyazaki, 宮本亮介, Ai Miyashiro, Koji Fujita, Yuishin Izumi and Ryuji Kaji : 塩酸ドネペジルにて歩行障害の改善を見たiNPHの一例, パーキンソン病・運動障害疾患コングレスプログラム・抄録集, 105, 2014. (Keyword) 水頭症-正常圧(合併症,診断,薬物療法) 歩行障害-神経性(病因,診断,薬物療法) Donepezil(治療的利用) すくみ足歩行(病因,診断,薬物療法) ヒト高齢者(65~79) 男
140.	Yoshimichi Miyazaki, Toshitaka Kawarai, 中村和己, 大崎裕亮, Hiroyuki Nodera, Yuishin Izumi and Ryuji Kaji : 家族性脊髄小脳変性症(SCA15)に対する反復経頭蓋磁気刺激の治療効果, Japanese Journal of Clinical Neurophysiology, Vol.42, No.5, 329, 2014. (Keyword) 脊髄小脳変性症(治療) 治療成績きょうだい経頭蓋磁気刺激ヒト女
141.	Yoshimichi Miyazaki, Naoko Matsui, Koji Fujita, 大崎裕亮, 森敦子, 丸山恵子, Yoshimitsu Shimatani, Hiroyuki Nodera and Ryuji Kaji : ギラン・バレー症候群に対するIVIg前後の血清IgG値の変動と治療効果, Clinical Neurology, Vol.54, No.Suppl., S107, 2014.
142.	Yoshimichi Miyazaki, Masaki Kamada, Koji Fujita, Naoko Matsui, Yuishin Izumi, 村山繁雄 and Ryuji Kaji : 急激な経過をたどったLymphomatosis cerebriの1例, 第109回日本内科学会四国地方会, Dec. 2013.
143.	Koji Fujita, 湯浅龍彦, 高橋幸利, 田中恵子, 岩崎靖, Naoko Matsui, Yuishin Izumi and Ryuji Kaji : 抗NMDA受容体抗体陽性のCreutzfeldt-Jakob病と免疫関連脳炎の鑑別, 第25回日本神経免疫学会学術集会, Nov. 2013.
144.	Naoko Matsui, 古川貴大, Koji Fujita, Yoshimichi Miyazaki, Kenta Sato, Yuishin Izumi, 西田善彦 and Ryuji Kaji : Fingolimodはrecent thymic emigrantへの影響, 第25回日本神経免疫学会学術集会, Nov. 2013.
145.	山村行生, Ryoma Morigaki, Jiro Kasahara, 横山宏典, 田邊彬恵, Shinya Ohkita, 小泉英貴, Shinji Nagahiro, Ryuji Kaji and Satoshi Goto : ドーパミンシグナルはマウス線条体サイクリン依存性キナーゼ5 (Cdk5) のチロシン15残基リン酸化を抑制的に制御する, 第17回活性アミンに関するワークショップ, Aug. 2013.
146.	山村行生, Ryoma Morigaki, Jiro Kasahara, 横山宏典, 田邊彬恵, Shinya Ohkita, 小泉英貴, Shinji Nagahiro, Ryuji Kaji and Satoshi Goto : ドーパミンシグナルはマウス線条体サイクリン依存性キナーゼ5 (Cdk5) のチロシン15残基リン酸化を抑制的に制御する, Neuro2013, Jun. 2013.
147.	山本伸昭, Yuka Terasawa, Yuishin Izumi, Ryuji Kaji, Junichiro Satomi, Yasuhisa Kanematsu and Shinji Nagahiro : CAS後ステント内プラークの頻度および予測因子 -頸動脈エコーによる追跡-, 第32回日本脳神経超音波学会総会, Jun. 2013.
148.	橋口修二, 川村和之, 有井敬治, Takao Mitsui, 足立克仁, Koji Fujita, Ryuji Kaji and Noriko Kagawa : 緩徐進行性の孤発性クロイツフェルト・ヤコブ病(MM1+2型)の79歳剖検例, 第108回日本内科学会四国地方会, Jun. 2013.
149.	Naoko Matsui, 古川貴大, Yoshimichi Miyazaki, Yuka Terasawa, Yuishin Izumi, 西田善彦 and Ryuji Kaji : Fingolimodは重症筋無力症の治療となりうるか?, 第54回日本神経学会学術大会, May 2013.
150.	山村行生, Ryoma Morigaki, Jiro Kasahara, 横山宏典, 田邊彬恵, Shinya Ohkita, 小泉英貴, Shinji Nagahiro, Ryuji Kaji and Satoshi Goto : ドーパミンシグナルはマウス線条体サイクリン依存性キナーゼ5 (Cdk5) のチロシン15残基リン酸化を抑制的に制御する, 第20回カテコールアミンと神経疾患研究会, Apr. 2013.
151.	山本伸昭, 酒井和香, Yuka Terasawa, Yuishin Izumi, Ryuji Kaji, Junichiro Satomi and Shinji Nagahiro : small vessel diseaseの進行予測, 第15回徳島脳血管障害カンファレンス, Apr. 2013.
152.	Yuka Terasawa, 山本伸昭, Yuishin Izumi, Ryuji Kaji, Junichiro Satomi, Yasuhisa Kanematsu and Shinji Nagahiro : CAS後ステント内プラークの頻度および予測因子-超音波エコーによる追跡-, 第38回日本脳卒中学会総会, Mar. 2013.
153.	Hideo Mure, Kohhei Nakajima, Motohiro Hirasawa, Shinji Nagahiro, 小泉英貴 and Ryuji Kaji : パーキンソン病に合併した腰痛に対する脊髄刺激療法の1例，, 第1回徳島脳神経疾患談話会, Mar. 2013.
154.	Ryuji Kaji : 不随意運動の診断と治療, 第5回パーキンソン病治療懇談会, Feb. 2013.
155.	Ryuji Kaji : 脱髄性末梢神経疾患の病態と治療, 第9回福岡神経免疫セミナー, Feb. 2013.
156.	Naoko Matsui, Izumi Ohigashi, Kazuya Kondo, Yousuke Takahama and Ryuji Kaji : 重症筋無力症の過形成胸腺ではハッサル小体が増加している, 第32回日本胸腺研究会, Feb. 2013.
157.	Ryuji Kaji : 脳卒中リハビリ最前線 -6か月の壁をこえるには?-, 坂出回生病院市民公開講座, Jan. 2013.
158.	Ryoma Morigaki, Masahito Nakataki, Junichi Iga, Toshitaka Kawarai, Hideo Mure, Yoshifumi Mizobuchi, 大北真哉, Tetsuro Ohmori, Shinji Nagahiro, Satoshi Goto and Ryuji Kaji : X-linked dystonia-parkinsonismのうつ症状, 第52回日本定位・機能神経外科学会, Jan. 2013.
159.	Hideo Mure, Ryoma Morigaki, 大北真哉, Satoshi Goto, Shinji Nagahiro, 小泉英貴, Toshitaka Kawarai and Ryuji Kaji : 両側視床Vo核刺激が奏功したDYT6の一例, 第52回日本定位・機能神経外科学会, Jan. 2013.
160.	Yoshimichi Miyazaki, Kenta Sato, Koji Fujita, Yuishin Izumi and Ryuji Kaji : 早期PD患者のMIBG心筋シンチとwearing-off発症の関連, Clinical Neurology, Vol.53, No.12, 1613, 2013. (Keyword) Parkinson病(放射性核種診断) 薬物反応性低下 Iobenguane(診断的利用) 心筋血流イメージング *Wearing-off現象ヒト
161.	Toshitaka Kawarai, Mitsuya Morita, Ryoma Morigaki, Koji Fujita, Hiroyuki Nodera, Yuishin Izumi, Satoshi Goto, Imaharu Nakano and Ryuji Kaji : Pathomechanisms of motor neuron death by mutant TFG., Clinical Neurology, Vol.23, No.11, 1199, 2013. (Summary) Mutations in TFG gene have been demonstrated in hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) and hereditary spastic paraplegia (HSP). A broad spectrum of TFG pathology is suspected in motor neuron diseases including amyotrophic lateral sclerosis (ALS). We performed mutation screening of TFG gene in ALS cases and evaluated the biological functions of mutant TFG by expression experiment in cultured cells. Two missense mutations associated with sporadic ALS were discovered. Mislocalization of ALS-related proteins, including TDP-43 and optineurin, was demonstrated. These results indicate that mistrafficking of ALS-related proteins by mutant TFG might be a biological cascade leading to motor neuron death. (Keyword) Humans / Mutation, Missense / Proteins / Spastic Paraplegia, Hereditary (Link to Publication Site) ● Publication site (DOI): 10.5692/clinicalneurol.53.1199 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 24291928 ● Summary page in Scopus @ Elsevier: 2-s2.0-84891811182 (DOI: 10.5692/clinicalneurol.53.1199, PubMed: 24291928, Elsevier: Scopus)
162.	Kozo Kagawqa, Hiroshi Kawano, Koji Fujita, Nagahisa Murakami, Jun Kishi, Masaki Hanibuchi, Ryuji Kaji and Yasuhiko Nishioka : MPO-ANCA関連肥厚性硬膜炎の1例, 第107回日本内科学会四国地方会, Dec. 2012.
163.	Ryuji Kaji : 脳卒中後遺症の治療 -6か月の壁をこえるには?-, 小松島市医師会学術講演会 -南部連携の会-, Nov. 2012.
164.	Ryuji Kaji : 痙縮に対するボツリヌス療法, 神戸痙縮講演会, Nov. 2012.
165.	Ryuji Kaji : 脳卒中リハビリ最前線 -6か月の壁をこえるには?-, リハビリ治療市民公開講座, Oct. 2012.
166.	Ryuji Kaji : 痙縮に対するボツリヌス療法, 第9回近畿ボツリヌス療法研究会, Oct. 2012.
167.	Ryuji Kaji : 神経検査の読み方・考え方, 脳・神経検査講座, Oct. 2012.
168.	Ryuji Kaji : 不随意運動の診かた, 第1回静岡運動障害研究会, Oct. 2012.
169.	Ryuji Kaji : 痙縮に対するボツリヌス療法, 埼玉痙縮講演会, Sep. 2012.
170.	古川貴大, Koji Fujita, Yuishin Izumi, 清水文崇, 宮本勝一, 高橋幸利, 神田隆, 楠進 and Ryuji Kaji : MMNおよびALSにおけるサイトカイン・プロファイル, 第24回日本神経免疫学会学術集会, Sep. 2012.
171.	Naoko Matsui, Izumi Ohigashi, Kazuya Kondo, 野村芳子, Yousuke Takahama and Ryuji Kaji : 重症筋無力症の過形成胸腺ではハッサル小体が増加している, 第24回日本神経免疫学会学術集会, Sep. 2012.
172.	Naoko Matsui, Izumi Ohigashi, Kazuya Kondo, 野村芳子, Yousuke Takahama and Ryuji Kaji : 重症筋無力症の過形成胸腺ではハッサル小体が増加している, 第24回日本神経免疫学会, Sep. 2012.
173.	Ryuji Kaji : 多発性運動ニューロパチーの病態・疫学と治療, 第23回日本末梢神経学会学術集会, Aug. 2012.
174.	Ryuji Kaji : ALSの早期診断, 第3回 ALSフォーラム, Jul. 2012.
175.	Ryuji Kaji : ALSの早期診断と治療, Neurology Seminar in NAGOYA, Jul. 2012.
176.	Ryuji Kaji : 局所ジストニアと動作特異性, 第27回日本大脳基底核研究会, Jul. 2012.
177.	Ryuji Kaji : 痙縮のボツリヌス治療, 第49回日本リハビリテーション医学学術集会, Jun. 2012.
178.	Junichiro Satomi, Yasuhisa Kanematsu, Yuka Terasawa, Ryuji Kaji and Shinji Nagahiro : CAS周術期における頸動脈プラークの変化—超音波エコーによる追跡—, 第11回日本頸部脳血管治療学会, Jun. 2012.
179.	清水文祟, 佐野泰照, 斉藤和幸, 安部真彰, 前田敏彦, 春木明代, Naoko Matsui, Ai Miyashiro, Ryuji Kaji and 神田隆 : 多巣性運動ニューロパチー血清は血液神経関門を破綻させる, 第53回日本神経学会学術大会, May 2012.
180.	酒井和香, Naoko Matsui, Yuka Terasawa, Koji Fujita, Kenta Sato, Masaki Kamada, Yuishin Izumi and Ryuji Kaji : 50歳以上発症重症筋無力症における臨床像 64歳迄vs65歳以上, 第53回日本神経学会学術大会, May 2012.
181.	Ryuji Kaji : A型ボツリヌス毒素療法, 第53回日本神経学会総会(生涯教育セミナー hands-on), May 2012.
182.	Ryuji Kaji : A型ボツリヌス毒素製剤ボトックス講習・実技セミナー(適応症:上肢痙縮・下肢痙縮), ボトックス講習・実技セミナー, May 2012.
183.	Ryuji Kaji : CIDPに対する治療計画について, CIDP検討会, May 2012.
184.	Ryuji Kaji : 糖尿病性神経障害の新たな展開(New Developments in Diabetic Neuropathy), 第55回日本糖尿病学会年次学術集会, May 2012.
185.	Toshitaka Kawarai, 佐治直樹, 寺澤英夫, 清水洋孝, 喜多也寸志, Atsushi Tajima, Issei Imoto, Yuishin Izumi and Ryuji Kaji : 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, 第53回日本神経学会学術大会, May 2012.
186.	Yasuhisa Kanematsu, Junichiro Satomi, Yuka Terasawa, 山本伸昭, Ryuji Kaji and Shinji Nagahiro : 徳島大学病院Stroke Care Unit入院患者の最近の動向と予後, 第14回徳島脳卒中研究会, Feb. 2012.
187.	Yoshimichi Miyazaki, 中村和己, Kenta Sato, Masaki Kamada, Toshitaka Kawarai, Yuishin Izumi, Ryuji Kaji, 出口一志, 石川欽也 and 水澤英洋 : 家族性脊髄小脳変性症(SCA15)の1家系, Clinical Neurology, Vol.52, No.6, 450, 2012. (Keyword) Wechsler知能検査血統活動電位 MRI *脊髄小脳変性症(診断) 体性感覚誘発電位遺伝学的検査ヒト中年(45~64) 女
188.	Naoko Matsui, Izumi Ohigashi, 野村芳子, Yousuke Takahama and Ryuji Kaji : 重症筋無力症患者胸腺における制御性T細胞ならびにハッサル小体の役割, Clinical Neurology, Vol.51, No.12, 1300, Dec. 2011.
189.	森達夫, Kenji Mori, 永井隆, Yumiko Kotani, Shoji Kagami, Ryuji Kaji and Satoshi Goto : 2次性に難治性の全身性ジストニアを来たしたhyperinsulinism-hyperammonaemia syndrome(HHS)の1女児例, 第22回日本小児神経学会中国・四国地方会, Jul. 2011.
190.	Ryuji Kaji : ジストニアの診断と治療, 第2回動画で学ぶ青森神経症候研究会, Mar. 2011.
191.	Ryuji Kaji : パーキンソン病の不随意運動, 第5回つくばPDセミナー, Feb. 2011.
192.	Ryuji Kaji : ジストニアによる頭痛, 頭痛フォーラム2011, Feb. 2011.
193.	山本伸昭, 酒井和香, 宮本亮介, 宮城愛, Kenta Sato, Yuka Terasawa, Naoko Matsui, Koutaro Asanuma, Yuishin Izumi and Ryuji Kaji : 高齢発症のNeuromyelitis optica(NMO)についての検討, Clinical Neurology, Vol.51, No.2, 154, Feb. 2011. (Keyword) *視神経脊髄炎 / Homo sapiens
194.	宮本亮介, 山本伸昭, 宮城愛, Yuka Terasawa, Kenta Sato, Naoko Matsui, Koutaro Asanuma, Yuishin Izumi and Ryuji Kaji : 遷延する膀胱直腸障害を主徴としたataxic sensory-autonomic neuropathyの一例, Clinical Neurology, Vol.51, No.2, 157, Feb. 2011. (Keyword) IgG(治療的利用); 運動失調症(診断,合併症,薬物療法); 神経系疾患(診断,合併症,薬物療法); 直腸疾患(病因); 膀胱疾患(病因); 静脈内注入 / 神経伝導速度 / ヒト; 成人(19∼44); 女
195.	Ryuji Kaji : 不随意運動のみかた, 姫路神経カンファレンス, Jan. 2011.
196.	Kenta Sato, Ryuji Kaji, 古川直美 and 中川千草 : 疾患と看護がわかる看護過程ナーシングプロセス ALS(筋萎縮性側索硬化症), Clinical Study, Vol.32, No.1, 16-38, Jan. 2011. (Keyword) 看護過程; 筋萎縮性側索硬化症(看護,治療); 患者ケア計画; 在宅人工呼吸療法 / ヒト; 看護
197.	Yoshimichi Miyazaki, Ai Miyashiro, Nobuaki Yamamoto, Kenta Sato, Yuka Terasawa, Naoko Matsui, Koutaro Asanuma, Yuishin Izumi and Ryuji Kaji : t-PA治療が奏功した超高齢発症脳梗塞の2例, Japanese Journal of Geriatrics, Vol.48, No.4, 418, 2011. (Keyword) 脳梗塞(薬物療法) Tissue Plasminogen Activator(治療的利用) ヒト高齢者(80~) 女
198.	Yoshimichi Miyazaki, Wataru Sako, Koutaro Asanuma, Yuishin Izumi and Ryuji Kaji : ゾルピデムによるジストニアの治療, Clinical Neurology, Vol.51, No.12, 1435, 2011. (Keyword) ジストニア(薬物療法) Zolpidem(治療的利用) ヒト
199.	宇高憲吾, Naoko Matsui, 宮本亮介, Yuka Terasawa, Kenta Sato, Koutaro Asanuma, Yuishin Izumi, Ryuji Kaji, Shiroh Fujii, Kyoko Takeuchi, Masahiro Abe and Masafumi Harada : 多発性骨髄腫の経過中に進行性多巣性白質脳症をきたした一例, Shikoku Acta Medica, Vol.66, No.5-6, 198, Dec. 2010. (Keyword) Cytarabine(治療的利用); Prednisolone(治療的利用); 自家移植; 骨髄腫-多発性(合併症,治療); 白質脳症-進行性多巣性(合併症,画像診断,薬物療法); Mirtazapine(治療的利用); FLAIR法; 末梢血幹細胞移植 / ヒト; 中年(45∼64); 男
200.	Ryuji Kaji : ALSの早期発見と治療の展望, 第18回名古屋神経内科セミナー, Nov. 2010.
201.	Takao Mitsui, 牧由紀子, 藤本美希, 乾俊夫, 足立克仁, Yuishin Izumi and Ryuji Kaji : パーキンおよび関連蛋白による抗アポトーシス作用, 国立病院総合医学会講演抄録集, 339, Nov. 2010. (Keyword) ニューロン; 膜蛋白質; アポトーシス; Ubiquitin-Protein Ligase / Chondroitin Polymerizing Factor; Parkin Protein
202.	有井敬治, Takao Mitsui, 乾俊夫, 橋口修二, 足立克仁, 渋田佳子, 泰地治男, Yuishin Izumi and Ryuji Kaji : Parkinson病に対するMentality-oriented rehabilitationの効果, 国立病院総合医学会講演抄録集, 339, Nov. 2010. (Keyword) *Parkinson病(リハビリテーション); リハビリテーション; オーダーメイド医療 / Homo sapiens
203.	Ryuji Kaji : ジストニアの病態と治療, Neurological Therapeutics, Vol.27, No.6, 769-770, Nov. 2010. (Keyword) Botulinum Toxins(治療的利用); Trihexyphenidyl(治療的利用); *ジストニア(診断,薬物療法,外科的療法); 基底核疾患; 筋肉内注射; 経口投与; Parkinson病; 分類; 脳深部刺激 / 病態生理 / Homo sapiens
204.	佐光亘, Nagako Murase, 溝渕圭史, Ryoma Morigaki, Kazuhito Matsuzaki, Shinji Nagahiro, Ryuji Kaji and Satoshi Goto : ジストニア Focal hand dystoniaに対する視床Vo-complex破壊術と淡蒼球刺激術, Functional Neurosurgery, Vol.49, No.1, 98-99, Oct. 2010. (Keyword) ジストニア(治療,外科的療法); 筋収縮; 淡蒼球; 手; 定位脳手術; 脳深部刺激 / 視床破壊術 / ヒト; 中年(45∼64); 男
205.	山本伸昭, 宮城愛, Yuka Terasawa, Kenta Sato, Koutaro Asanuma, Yuishin Izumi and Ryuji Kaji : 下肢深部静脈血栓症から両心房内血栓，脳梗塞，肺塞栓を合併した1例, Clinical Neurology, Vol.50, No.7, 516, Oct. 2010. (Keyword) 下肢; MRI; 心エコー図; 脳梗塞(病因,画像診断); 肺塞栓症(病因,画像診断); 静脈血栓症(合併症,画像診断); *心房内血栓症(病因,超音波診断) / ヒト; 成人(19∼44); 女
206.	宮城愛, Yuka Terasawa, Naoko Matsui, 山本伸昭, Kenta Sato, Koutaro Asanuma, Yuishin Izumi and Ryuji Kaji : ステロイド投与が奏功した卵巣奇形腫を伴う抗グルタミン酸受容体抗体陽性脳炎の1例, Clinical Neurology, Vol.50, No.7, 517, Oct. 2010. (Keyword) Methylprednisolone(治療的利用); 奇形腫(診断); 抗体(血液); 卵巣腫瘍(診断); Glutamate Receptors; 脳炎-辺縁系(診断,免疫学,薬物療法); パルス療法(薬物療法) / ヒト; 成人(19∼44); 女
207.	Ryuji Kaji : 伝導ブロックと筋萎縮, Japanese Journal of Clinical Neurophysiology, Vol.38, No.5, 286, Oct. 2010. (Keyword) 活動電位; 筋萎縮症; 神経検査; 神経興奮伝導; 末梢神経 / 神経伝導速度 / Homo sapiens
208.	宮城愛, 渋田佳子, ハンドンムハメド, Koutaro Asanuma, Yuishin Izumi and Ryuji Kaji : Riche-Cannieu吻合の1例, Japanese Journal of Clinical Neurophysiology, Vol.38, No.5, 321, Oct. 2010. (Keyword) 活動電位; 尺骨神経; 神経系奇形(診断); 正中神経 / Martin-Gruber吻合(診断); 運動神経; 神経伝導速度 / ヒト; 成人(19∼44); 男
209.	島谷佳光, Naoko Matsui, 宮城愛, Koutaro Asanuma, Koji Fujita, Yuka Terasawa, Kenta Sato, Yuishin Izumi and Ryuji Kaji : Neuromyelitis opticaにおけるVEPの検討, Japanese Journal of Clinical Neurophysiology, Vol.38, No.5, 330, Oct. 2010. (Keyword) 視神経脊髄炎; 視覚誘発電位 / Homo sapiens
210.	水越愛, 伊藤聖, 織田雅也, 日地正典, Yuishin Izumi and Ryuji Kaji : NIによるALS患者に対するメチルコバラミン大量投与の短期的効果評価, Japanese Journal of Clinical Neurophysiology, Vol.38, No.5, 330, Oct. 2010. (Keyword) 筋萎縮性側索硬化症(薬物療法); 治療成績; 大量薬物療法; Mecobalamin(治療的利用) / Homo sapiens
211.	高松直子, Yuka Terasawa, 山本伸昭, Kenta Sato, 宮本亮介, 宮城愛, 島谷佳光, Naoko Matsui, Koutaro Asanuma, Yuishin Izumi and Ryuji Kaji : 超音波所見が診断に有用であった筋サルコイドーシスの1例, Japanese Journal of Clinical Neurophysiology, Vol.38, No.5, 333, Oct. 2010. (Keyword) 眼筋; 眼瞼下垂(病因); 超音波診断; サルコイドーシス(合併症); *筋力低下(病因) / ヒト; 中年(45∼64); 女
212.	Naomi Morita, Hideki Otsuka, Masafumi Harada, Junichiro Satomi, Shinji Nagahiro, Yuka Terasawa and Ryuji Kaji : TIA症例に対するDWI所見の検討, Journal of Japan Radiological Society, S191, Oct. 2010. (Keyword) 脳虚血-一過性(画像診断); 拡散MRI / ヒト; 男; 女
213.	Ryuji Kaji : 中枢性脱髄の電気生理学, 第9回東京MS研究会, Sep. 2010.
214.	Ryuji Kaji : 整形外科医にとって必要な神経・筋疾患の基礎的知識, 富山県呉西臨床整形外科医会「山水会」講演会, Sep. 2010.
215.	Ryuji Kaji : ボツリヌス治療の現状と展望, 第6回神経・筋疾患に関するボツリヌス療法研究会, Sep. 2010.
216.	Ryuji Kaji : 不随運動の見方 ∼小児を中心として∼, 第29回四国小児神経症例検討会, Aug. 2010.
217.	Ryuji Kaji : ジストニアの病態と治療, 第28回日本神経治療学会総会, Jul. 2010.
218.	Ryuji Kaji : アルツハイマー病にならないために, 第45回地域学術研修セミナー講演会, Jul. 2010.
219.	Masaki Kamada, Shunya Nakane, Yuishin Izumi and Ryuji Kaji : アルツハイマー病(AD)に正常圧水頭症(NPH)が合併していると考えられた1例, Japanese Journal of Geriatrics, Vol.47, No.4, 337, Jul. 2010. (Keyword) Alzheimer病(合併症); 水頭症-正常圧(合併症) / ヒト; 高齢者(65∼79); 男
220.	宮崎由道, Koutaro Asanuma, Hiroyuki Nodera, Yuishin Izumi and Ryuji Kaji : 認知症が長期先行した筋萎縮性側索硬化症の1例, Japanese Journal of Geriatrics, Vol.47, No.4, 364, Jul. 2010. (Keyword) 筋萎縮性側索硬化症(合併症); 認知症(病因) / ヒト; 高齢者(65∼79); 男
221.	Ryuji Kaji : ジストニア・痙縮のボツリヌス治療-手技と実際, 神経・筋疾患に関するボツリヌス療法懇話会, Jun. 2010.
222.	Ryuji Kaji : "A2 型ボツリヌス毒素(A2NTX)の生理機能とその創薬への道, 第87回日本生理学会, May 2010.
223.	Yuishin Izumi, 宮城愛, 山本伸昭, Koutaro Asanuma and Ryuji Kaji : Riluzole内服中に水疱性類天疱瘡を生じたALSの2例, Neurological Therapeutics, Vol.27, No.3, 421, May 2010. (Keyword) 筋萎縮性側索硬化症; 経口投与; 類天疱瘡-水疱性(化学的誘発); *Riluzole(治療的利用,毒性・副作用) / ヒト; 中年(45∼64); 高齢者(65∼79); 男; 女
224.	Naomi Morita, Masafumi Harada, Junichiro Satomi, Yuishin Izumi, Shinji Nagahiro, Ryuji Kaji and Hiromu Nishitani : rt-PA投与患者における3T-MRIでのT2*-WI虚血サインと予後の評価, 第39回日本脳卒中の外科学会, Apr. 2010.
225.	Masafumi Harada, Naomi Morita, Shinji Nagahiro, Junichiro Satomi and Ryuji Kaji : Tesla MRIにおけるT2*-WIの虚血所見と血栓溶解療法における予後との関連について, 第39回日本脳卒中の外科学会, Apr. 2010.
226.	山本伸昭, Yuka Terasawa, Koji Fujita, Ryoma Morigaki, Junichiro Satomi, Ryuji Kaji and Shinji Nagahiro : 3T MRI T2強調画像におけるischemic vessel signsの検討, 第39回日本脳卒中の外科学会, Apr. 2010.
227.	Ryoma Morigaki, Yoshifumi Mizobuchi, Shinji Nagahiro, 佐光亘, Ryuji Kaji, Satoshi Goto, Masaaki Uno, Shunji Matsubara, Koichi Satoh and Atsuhiko Suzue : 脳血管障害による不随意運動の3症例, 第49回日本定位・機能神経外科学会, Jan. 2010.
228.	Wataru Sako, Nagako Murase, 溝渕圭史, Ryoma Morigaki, Kazuhito Matsuzaki, Shinji Nagahiro, Ryuji Kaji and Satoshi Goto : ジストニア Meige症候群に対する両側淡蒼球刺激術, Functional Neurosurgery, Vol.49, No.1, 94-95, 2010. (Keyword) Meige症候群(合併症,治療); ジストニア(病因,治療); MRI; 淡蒼球(画像診断); 発声障害(病因,治療); *脳深部刺激 / ヒト; 成人(19∼44); 中年(45∼64); 男; 女
229.	Yoshimichi Miyazaki, Ai Miyashiro, Yoshimitsu Shimatani, Koutaro Asanuma, Hiroyuki Nodera, Yuishin Izumi, Ryuji Kaji, 川西健登, 丸山博文 and 川上秀史 : SOD1遺伝子変異(G93S)をともなった家族性筋萎縮性側索硬化症の1家系, Clinical Neurology, Vol.50, No.3, 193, 2010. (Keyword) Superoxide Dismutase 筋萎縮性側索硬化症(遺伝学,診断) 筋電図変異遺伝学的検査 *Superoxide Dismutase 1 ヒト成人(19~44) 女
230.	Yoshimichi Miyazaki, Koutaro Asanuma, Hiroyuki Nodera, Yuishin Izumi and Ryuji Kaji : 認知症が長期先行した筋萎縮性側索硬化症の1例, Japanese Journal of Geriatrics, Vol.47, No.4, 364, 2010. (Keyword) 筋萎縮性側索硬化症(合併症) 認知症(病因) ヒト高齢者(65~79) 男
231.	Yoshimichi Miyazaki, Nobuaki Yamamoto, Koji Fujita, 中村和己, Yuishin Izumi and Ryuji Kaji : 脳小血管病変(SVD)はパーキンソン症状を悪化させる, Clinical Neurology, Vol.50, No.12, 1248, 2010. (Keyword) 血管疾患病勢悪化パーキンソニズム(合併症) 脳小血管病(合併症) ヒト
232.	佐光亘, Nagako Murase, 溝渕圭史, 森垣龍馬, Kazuhito Matsuzaki, Shinji Nagahiro, Ryuji Kaji and Satoshi Goto : ジストニア Meige症候群に対する両側淡蒼球刺激術, Functional Neurosurgery, Vol.49, No.1, 94-95, 2010. (Keyword) Meige症候群(合併症,治療); ジストニア(病因,治療); MRI; 淡蒼球(画像診断); 発声障害(病因,治療); *脳深部刺激 / ヒト; 成人(19∼44); 中年(45∼64); 男; 女
233.	Takashi Sakai, HoangNam Tran, Li Liu, Rika Sakai, Sun Mi Kim, Ryuji Kaji and Kiyoshi Fukui : Nucling, a novel apoptosis-regulatory molecule, regulates NF-kappa B signal, The 82nd annual meeting of the Japanese Biochemical Society, Oct. 2009.
234.	Takashi Sakai, Hoang Nam Tran, Li Liu, Rika -Mukai Sakai, Sun Mi Kim, Ryuji Kaji and Kiyoshi Fukui : 炎症性肝疾患におけるヌクリング-NF-κB経路の働き, 50回日本生化学会中国四国支部例会, May 2009.
235.	高松直子, Hirotsugu Yamada, 西尾進, 佐藤光代, 平岡葉月, Kenya Kusunose, 冨田紀子, Yuishin Izumi, Ryuji Kaji and Masataka Sata : 麦角系アルカロイド剤を服用しているパーキンソン病患者の心エコー所見, 第20回日本心エコー図学会学術集会, Apr. 2009.
236.	Yoshimichi Miyazaki, Yuishin Izumi, Masaki Kamada, Koutaro Asanuma, Hiroyuki Nodera and Ryuji Kaji : 徳島大学病院の筋萎縮性側索硬化症(ALS)診療の現状と問題点, Clinical Neurology, Vol.49, No.12, 1176, 2009. (Keyword) *筋萎縮性側索硬化症大学病院ヒト
237.	Yoshinori Nitta, Masatake Akutagawa, Takahiro Emoto, Toshiya Okahisa, Hiroshi Miyamoto, Yoshiaki Ohnishi, 中根俊也, Ryuji Kaji, Masaji Nishimura and Yohsuke Kinouchi : SOMを使用した血液浄化療法中における患者体内の水分移動の評価, 第31回日本生体医工学会中四国支部大会講演抄録, 32, Oct. 2008.
238.	Yoshinori Nitta, Masatake Akutagawa, Toshiya Okahisa, Hiroshi Miyamoto, Yoshiaki Ohnishi, Masaji Nishimura, Shunya Nakane, Ryuji Kaji and Yohsuke Kinouchi : Investigation of a classification about Ht wave using SOM, Journal of Shikoku-Section Joint Convention of the Institutes of Electrical and Related Engineers, 257, Sep. 2008.
239.	嘉村友一, Masatake Akutagawa, Toshiya Okahisa, Hiroshi Miyamoto, Yoshiaki Ohnishi, Masaji Nishimura, Shunya Nakane, Ryuji Kaji and Yohsuke Kinouchi : Eigenvalue analysis of Ht value during the plasma exchange, Journal of Shikoku-Section Joint Convention of the Institutes of Electrical and Related Engineers, 256, Sep. 2008.
240.	Hoang Nam Tran, Takashi Sakai, Salah M. El-Sayed, Li Liu, Rika Sakai, Naozumi Ishimaru, Yoshio Hayashi, Ryuji Kaji and Kiyoshi Fukui : 新規アポトーシス制御分子ヌクリングはNF-κB の制御に関与する, 第49回日本生化学会中国四国支部例会, May 2008.
241.	Takashi Sakai, HoangNam Tran, Li Liu, Xichuan Teng, Naozumi Ishimaru, Rika Sakai, Nobuya Sano, Ryuji Kaji, Yoshio Hayashi and Kiyoshi Fukui : Nucling is essential for the maintenance of Kupffer cells related to tumorgenesis in liver, The 30th Annual Meetings of the Molecular Biology Society of Japan/The 80th Annual Meeting of the Japanese Biochemical Society, Dec. 2007.
242.	Yoshinori Nitta, Masatake Akutagawa, Toshiya Okahisa, Hiroshi Miyamoto, Yoshiaki Ohnishi, Masaji Nishimura, Shunya Nakane, Ryuji Kaji and Yohsuke Kinouchi : Prediction and Analysis for the Ht values using Neural Network, システム・情報部門学術講演会2007講演論文集, 141-146, Nov. 2007.
243.	嘉村友一, Masatake Akutagawa, Toshiya Okahisa, Hiroshi Miyamoto, Yoshiaki Ohnishi, Masaji Nishimura, Shunya Nakane, Ryuji Kaji and Yohsuke Kinouchi : Analysis of Ht value during the plasma exchange, Journal of Shikoku-Section Joint Convention of the Institutes of Electrical and Related Engineers, 226, Sep. 2007.
244.	Yoshinori Nitta, Masatake Akutagawa, Toshiya Okahisa, Hiroshi Miyamoto, Yoshiaki Ohnishi, Masaji Nishimura, Shunya Nakane, Ryuji Kaji and Yohsuke Kinouchi : Analysis of Ht value after 1 minute during the blood purification, Journal of Shikoku-Section Joint Convention of the Institutes of Electrical and Related Engineers, 225, Sep. 2007.
245.	Koji Fujita, 阿部秀一, Yuishin Izumi, Hirotsugu Yamada, 森田直美, Masafumi Harada, Shinji Nagahiro and Ryuji Kaji : 心筋障害・心房中隔瘤に伴い心原性脳塞栓症を呈したBecker型筋ジストロフィーの1例, 第9回徳島臨床脈管研究会, Sep. 2007.
246.	Takashi Sakai, Li Liu, Xichuan Teng, Naozumi Ishimaru, Rika Sakai, Nobuya Sano, Ryuji Kaji, Hoang Nam Tran, Yoshio Hayashi and Kiyoshi Fukui : 新規アポトーシス制御分子ヌクリングの肝癌発症機構における役割の解明, 第48回日本生化学会中国四国支部例会, May 2007.
247.	Li Liu, Takashi Sakai, Xichuan Teng, Rika Sakai, Ryuji Kaji and Kiyoshi Fukui : Nucling mediates NF-B nuclear translocation and activation through interaction with NF-B-p50, 28th Annual meeting of the molecular biology society of Japan, Dec. 2005.
248.	Takashi Sakai, Xichuan Teng, Li Liu, Rika Sakai, Ryuji Kaji and Kiyoshi Fukui : 新規Apoptosome制御因子Nuclingに関するノックアウトマウスを用いた機能解析, Nucling mediates NF-B nuclear translocation and activation through interaction with NF-B-p50, Dec. 2005.
249.	Takashi Sakai, Xichuan Teng, Li Liu, Rika Sakai, Nobuya Sano, Ryuji Kaji and Kiyoshi Fukui : Nucling controls NF-B-associated tumorgenesis by regulating inflammation and apoptosis, The 78th Annual Meeting of the Japanese Biochemical Society, Oct. 2005.
250.	Xichuan Teng, Takashi Sakai, Li Liu, Rika Sakai, Ryuji Kaji and Kiyoshi Fukui : Nucling mediates the induction of apoptosome and the expression of cyclooxygenase 2 in a mouse model of Parkinson's, The 78th Annual Meeting of the Japanese Biochemical Society, Oct. 2005.
251.	Takashi Sakai, Li Liu, Rika Sakai, Ryuji Kaji, Tasuku Mitani, Mitsuru Matsumoto, Kazunori Toida, Yuji Shishido and Kiyoshi Fukui : Nucling is important for the upregulation of Apaf-1/procaspase-9cytochrome c apoptosome following cellular stress in vivo, The 77th Annual Meeting of the Japanese Biochemical Society, Oct. 2004.
252.	Xichuan Teng, Takashi Sakai, Li Liu, Rika Sakai, Ryuji Kaji and Kiyoshi Fukui : Attenuation of MPTP-induced neurotoxicity and motor dysfunction in Nucling deficient mice, The 77th Annual Meeting of the Japanese Biochemical Society, Oct. 2004.
253.	Takashi Sakai, Li Liu, Yuji Shishido, Ryuji Kaji and Kiyoshi Fukui : Identification of a Novel, Embryonal Carcinoma Cell-Associated Molecule, Nucling, That is Up-regulated during Cardiac Muscle Differentiation, The 77th Annual Meeting of the Japanese Biochemical Society, Oct. 2004.

Et cetera, Workshop:

1.	Ryuji Kaji, Naoko Matsui, Hiroki Yamazaki, 高松直子, 山下賢, 西野一三 and Yuishin Izumi : 当院におけるIBM患者のまとめ, 稀少難治性筋疾患に関する調査研究班「IBM分科会」(令和4年度), Feb. 2023.
2.	Ryuji Kaji, Hiroki Yamazaki, Koji Fukushima, Naoko Matsui, 高松直子, 西野一三 and Yuishin Izumi : 当院で診断したIBM患者における筋超音波所見の長期的追跡, 稀少難治性筋疾患に関する調査研究班「IBM分科会」(令和3年度), Feb. 2022.
3.	Naoko Matsui, Mika Takahara, 西野一三, Ryuji Kaji and Yuishin Izumi : 顕著な嚥下障害をきたした抗NT5C1A抗体陽性高齢女性例, 稀少難治性筋疾患に関する調査研究班「IBM分科会」(令和2年度), Feb. 2021.
4.	Naoko Matsui, Yohhei Yamamoto, 田中恵子, Ryuji Kaji and Yuishin Izumi : スティッフパーソン症候群全国調査第三報, 神経免疫疾患のエビデンスによる診断基準・重症度分類・ガイドラインの妥当性と患者QOLの検証研究班(神経免疫疾患)政策および実用化研究班令和2年度合同班会議, Jan. 2021.
5.	Naoko Matsui, Yohhei Yamamoto, Yuishin Izumi, 田中惠子 and Ryuji Kaji : スティッフパーソン症候群全国調査第二報, 神経免疫疾患のエビデンスによる診断基準・重症度分類・ガイドラインの妥当性と患者QOLの検証研究班(神経免疫疾患)政策および実用化研究班令和元年度合同班会議, Jan. 2020.
6.	Hiroyuki Nodera, Naoko Matsui, 高松直子, Yuishin Izumi and Ryuji Kaji : デープラーニングによるIBMおよび類縁疾患の筋エコー画像判別, 稀少難治性筋疾患に関する調査研究班「IBM分科会」(平成30年度), Feb. 2019.
7.	Yohhei Yamamoto, Naoko Matsui, Yuishin Izumi, 田中惠子 and Ryuji Kaji : スティッフパーソン症候群全国調査, 神経免疫疾患のエビデンスによる診断基準・重症度分類・ガイドラインの妥当性と患者QOLの検証研究班(神経免疫疾患)政策および実用化研究班平成30年度合同班会議, Jan. 2019.
8.	Naoko Matsui, Hiroyuki Nodera, 高松直子, Yuishin Izumi and Ryuji Kaji : 当施設における封入体筋炎のアップデート, 稀少難治性筋疾患に関する調査研究班「IBM分科会」(平成29年度), Feb. 2018.
9.	Naoko Matsui, Yohhei Yamamoto, Takahiro Furukawa, 田中惠子 and Ryuji Kaji : スティッフパーソン症候群全国一次調査, 神経免疫疾患のエビデンスによる診断基準・重症度分類・ガイドラインの妥当性と患者QOLの検証研究班(神経免疫疾患)政策および実用化研究班平成29年度合同班会議, Jan. 2018.
10.	Ryoma Morigaki, Hideo Mure, Shinya Ohkita, 小山広士, Ryosuke Miyamoto, Ryuji Kaji and Satoshi Goto : 心因性ジストニアは器質性ジストニアと同じスペクトラムの障害か?, 第2回中四国機能神経外科談話会, Apr. 2017.
11.	Yohhei Yamamoto, Shotaroh Haji, Ryosuke Miyamoto, Takahiro Furukawa, Naoko Matsui, Yuishin Izumi and Ryuji Kaji : たこつぼ型心筋症を合併したMGクリーゼの一例, 第5回東四国神経免疫研究会, Jan. 2017.
12.	Toshiaki Takeuchi, Naoko Matsui, Yuki Yamamoto, Waka Sakai, 西田善彦, 南里和紀, Yuishin Izumi and Ryuji Kaji : 抗グリアジン抗体+抗GAD抗体陽性の自己免疫性小脳失調症の一例, 第52回亀山正邦記念神経懇話会, Nov. 2016.
13.	Ryuji Kaji, Hiroyuki Nodera, 高松直子, Naoko Matsui, 森敦子, Yuka Terasawa, Yoshimitsu Shimatani, 大崎裕亮, 丸山恵子 and Yuishin Izumi : 下腿三頭筋エコー輝度の解離により孤発性封入体筋炎と炎症性筋炎とを鑑別できる, 稀少難治性筋疾患に関する調査研究班「IBM分科会」(平成27年度), 49-50, Feb. 2016.
14.	Ryuji Kaji, Yoshimichi Miyazaki and Naoko Matsui : 免疫性ニューロパチーにおけるIVIg前後の血清IgG値の変動, 厚生労働省難治性疾患(神経免疫疾患)政策及び実用化研究班(平成27年度), Jan. 2016.
15.	Ryuji Kaji, Naoko Matsui and Hiroyuki Nodera : 封入体筋炎における筋エコーの有用性, 厚生労働省難治性疾患(神経免疫疾患)政策および実用化研究班(平成27年度), 70-71, Jan. 2016.
16.	Ryuji Kaji, Naoko Matsui and 古川貴大 : スティッフパーソン症候群の現状と今後の課題, 厚生労働省難治性疾患(神経免疫疾患)政策および実用化研究班(平成27年度), 55-56, Jan. 2016.
17.	Nobuaki Yamamoto, Ryuji Kaji, Junichiro Satomi, 曽我部周, Kazuyuki Kuwayama and Shinji Nagahiro : The 2-layered SVS can predict stroke subtypes, 第34回The Mt. Fuji Workshop on CVD, Aug. 2015.
18.	Nobuaki Yamamoto, Ryuji Kaji, Junichiro Satomi, 曽我部周, Kazuyuki Kuwayama and Shinji Nagahiro : The 2-layered SVS can predict stroke subtypes, 第34回The Mt. Fuji Workshop on CVD, Aug. 2015.
19.	Nobuaki Yamamoto, Yuishin Izumi, Ryuji Kaji, 曽我部周, 吉岡正太郎, Yoshiteru Tada, Kazuyuki Kuwayama, Junichiro Satomi and Shinji Nagahiro : 急性期再灌流療法施行患者の予後予測因子, 第17回徳島脳血管障害カンファレンス, May 2015.
20.	Naoko Matsui, Yuishin Izumi, Masaki Kamada, 川上秀史 and Ryuji Kaji : 骨Paget病と痙性対麻痺を併発したVCP遺伝子変異によるミオパチーの一例, 稀少難治性筋疾患に関する調査研究班「IBM分科会」(平成26年度), Feb. 2015.
21.	Nobuaki Yamamoto, Koji Fujita, Yuishin Izumi, Ryuji Kaji, 山口泉, Junichiro Satomi, Shinji Nagahiro, Hirotsugu Yamada, Hajime Kinoshita and Tetsuya Kitagawa : 心内巨大血栓に伴う急性期脳梗塞の1例, 第16回徳島脳血管障害カンファレンス, Apr. 2014.
22.	Naoko Matsui, Yasushi Nakagawa, Kazuya Kondo, Ryuji Kaji and Yousuke Takahama : 重症筋無力症の過形成胸腺ではハッサル小体が増加している, 第33回日本胸腺研究会, Feb. 2014.
23.	松井尚子, Yasushi Nakagawa, Kazuya Kondo, Ryuji Kaji and Yousuke Takahama : 第33回日本胸腺研究会, 重症筋無力症の過形成胸腺ではハッサル小体が増加している, Feb. 2014.
24.	Ryuji Kaji, Naoko Matsui, Yoshimitsu Shimatani, Hiroyuki Nodera and Yuishin Izumi : IBMの診断における補助検査の有用性, 稀少難治性筋疾患に関する調査研究班(平成25年度), Jan. 2014.
25.	Ryuji Kaji, Yoshimichi Miyazaki, Naoko Matsui, Koji Fujita, 大崎裕亮, 森敦子, 丸山恵子, Yoshimitsu Shimatani and Hiroyuki Nodera : ギラン・バレー症候群に対するIVIg前後の血清IgG値の変動と治療効果, 免疫性神経疾患に関する調査研究班(平成25年度), Jan. 2014.
26.	Ryuji Kaji, Naoko Matsui, 古川貴大, Kazuya Kondo, Yousuke Takahama and 野村芳子 : 重症筋無力症の発症機序:過形成胸腺ではハッサル小体が増加している, 免疫性神経疾患に関する調査研究班(平成25年度), Jan. 2014.
27.	Ryuji Kaji, 古川貴大, Naoko Matsui, 清水文祟, 神田隆, 宮本勝一, 楠進 and 高橋幸利 : MMNとALSにおけるサイトカイン・プロファイル ∼第2報∼, 免疫性神経疾患に関する調査研究班(平成24年度), Jan. 2013.
28.	Ryuji Kaji, Naoko Matsui, 古川貴大, Yoshimichi Miyazaki and Yuka Terasawa : Fingolimodは重症筋無力症の治療となりうるか?, 免疫性神経疾患に関する調査研究班(平成24年度), Jan. 2013.
29.	Sakai Waka, Naoko Matsui, Koji Fujita and Ryuji Kaji : A case of NMO spectrum disorder associated with SIADH, Sendai Conference 2012, Jul. 2012.

Report:

1.	Yoshimichi Miyazaki, 宮本亮介, 小泉英貴, Toshitaka Kawarai and Ryuji Kaji : 若年発症全身性捻転ジストニアにおけるゾルピデム内服治療の有効性, ジストニアの分子病態解明と新規治療法開発に関する研究班(平成26年度), 29-30, Tokyo, 2015.
2.	Ryuji Kaji, Yoshimichi Miyazaki, Naoko Matsui, Koji Fujita, 大崎裕亮, 森敦子, 丸山恵子, Yoshimitsu Shimatani and Hiroyuki Nodera : ギラン・バレー症候群に対するIVIg前後の血清IgG値の変動と治療効果, 免疫性神経疾患に関する調査研究班(平成25年度), 154-155, Tokyo, 2014.
3.	Yoshimichi Miyazaki, 宮本亮介, 小泉英貴 and Ryuji Kaji : ジストニア患者の発症年齢別特徴., ジストニアの病態と疫学に関する研究班(平成25年度), 7-8, Tokyo, 2014.

Grants-in-Aid for Scientific Research (KAKEN Grants Database @ NII.ac.jp)

ジストニア新規遺伝子機能の解明 (Project/Area Number: 23K06929 )
Identifying therapeutic targets for dystonia (Project/Area Number: 20K07904 )
Disease- and Deep Brain Stimulation-Related Metabolic Networks using FDG-PET in Movement disorders (Project/Area Number: 16K10788 )
Overseas research for motor neuron disease with TFG gene mutation (Project/Area Number: 15H05293 )
Search and functional analysis of secreted microRNA associated with mitochondrial quality control (Project/Area Number: 26670374 )
Therapeutic development for Inclusion Body Myositis targeting endoplasmic reticulum stress response (Project/Area Number: 26670270 )
Analysis of TFG gene and development of treatment for motor neuron diseases (Project/Area Number: 26461294 )
Development of a new therapy for L-dopa-induced dyskinesia in Parkinson's disease targeting nuclear factor kappa b (Project/Area Number: 26461272 )
Experimental study on functional pathology of dystonia (Project/Area Number: 26430054 )
Repetitive spinalmagnetic sustains the effect of exercise in Parkinson's disease (Project/Area Number: 26282167 )
Development of treatment for occlusal dysethesia with botulinum toxin (Project/Area Number: 25670821 )
Search of miRNA profile analysis and specific miRNA in familial Parkinson's disease (Project/Area Number: 25461304 )
Therapeutic approaches by Tai Chi to intractable neurological diseases: study of the production and the usefulness of the self-study for the DVD (Project/Area Number: 25350661 )
Placebo effects in rehabilitation for neurological disorders (Project/Area Number: 24500636 )
The overseas scientific research for the elucidation of the mechanism of a novel familial motor neuron disease with sensory neuropathy originated in Japan (Project/Area Number: 24406030 )
Research on molecular pathogenesis and next-generation therapeutic agent for dystonia-parkinsonism (Project/Area Number: 24390223 )
Development of a novel therapeutic approach for ALS using anti-TNF antibody (Project/Area Number: 23659458 )
Comprehensive study on dystonia pathology (Project/Area Number: 23500428 )
The overseas scientific research for the elucidation of the mechanism of a novel hereditary motor sensory neuropathy originated in Japan (Project/Area Number: 21406026 )
Biomarker using 3TMRI for application of rtPA therapy in patients with brain infarction (Project/Area Number: 21390346 )
Translational study of molecular pathogenesis on dystonia and developing its novel therapeutic interventions (Project/Area Number: 21390269 )
Exploring the mechanism of rTMS therapeutic effects on writer's cramp (Project/Area Number: 20790615 )
Clinicopathological study on functional subdivisions of the globus pallidus internus in dystonias. (Project/Area Number: 20591025 )
Clinical index and development of the method to evaluate dynamic cerebral function using multinuclear high field MRI (Project/Area Number: 19390321 )
AmuIti-disciplinary approach to the genesis and therapy for dystonia (Project/Area Number: 18390260 )
Visualization of Molecular Mechanism of Brain Function and Neurological Disease Using High Magnetic Field MRI (Project/Area Number: 17591275 )
Analysis of the SCA8 CTA/CTG repeat in a large group of Japanese subjects. (Project/Area Number: 16590830 )
A study on pahtophysiology and non-invasive treatment of dystonia (Project/Area Number: 15390274 )
Molecular analysis of a new type of hereditary motor sensory neuropathy with proximal dominant involvement (Project/Area Number: 13670661 )
A Study of the Clinical Efficacy of Ultra-high Dose Methylcobalamin in Amyotrophic Lateral Sclerosis (Project/Area Number: 13557056 )
Physiological Study on Conduction Block and anti GM1 Antibody in Multifocal Motor Neuropathy (Project/Area Number: 12672356 )
Non-invasive studies of sensorimotor integration in human (Project/Area Number: 12210012 )
A single motor unit study of spinal cmd brainstem motor neuron in ALS (Project/Area Number: 09670653 )
Abnormal excitability of a spinal motoneuron in patients with amyotrophic lateral sclerosis. (Project/Area Number: 07670710 )
筋萎縮性側索硬化症と治療に関する研究 (Project/Area Number: 07407018 )
A study on the pathophysiology of ALS with therapeutic implications. (Project/Area Number: 07044252 )
Effect of Lymphokine on Saltatory Nerve Conduction in Single Myelinated Nerve Fibers. (Project/Area Number: 06670651 )
Trial manufacture of high freguency repetitive magnetic stimuletor : stability, safety and clinical usefulness (Project/Area Number: 06558109 )
Multi-disciplinary Approach of Pathophysiology of ALS (Project/Area Number: 05044161 )
Effect of Na-K exchanger inhibitor bepridil on neuronal death -single fiber study- (Project/Area Number: 04670487 )
A Study on Pathophysiology of Amyotrophic Lateral Sclerosis (ALS) (Project/Area Number: 04404043 )
Effect of Digitalis in Demyelinative Neurological Diseases and Their Animal Models : a Clinical and Electrophysiological Study (Project/Area Number: 01440096 )
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Professor Emeritus / Designated Professor : Kaji, Ryuji

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Grants-in-Aid for Scientific Research (KAKEN Grants Database @ NII.ac.jp)