Tokushima University / Educator and Researcher Directory --- Nakao, Ryohei

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Tokushima University ⟩ University Hospital ⟩ Central Clinical Facilities ⟩ 臨床研究推進部 ⟩
Tokushima University ⟩ University Hospital ⟩ Clinical Division ⟩ Department of Internal Medicine ⟩ Neurology ⟩

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Research

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Academic Paper (Judged Full Paper):

1.	Ryohei Nakao, Yuki Yamamoto, Ryosuke Miyamoto, K Tachibana, Masaki Kamada, Hiroyuki Morino and Yuishin Izumi : Adult-onset adenosine deaminase-2 deficiency presenting with recurrent juvenile cerebral infarction:A case report, The Journal of Medical Investigation : JMI, 72, 3, 4, 430-433, 2025.
2.	Ryohei Nakao, Yuki Yamamoto, Ryosuke Miyamoto, Konoka Tachibana, Masaki Kamada, Hiroyuki Morino and Yuishin Izumi : Adult-onset adenosine deaminase-2 deficiency presenting with recurrent juvenile cerebral infarction:A case report., The Journal of Medical Investigation : JMI, 72, 3.4, 430-433, 2025. (Summary) Adenosine deaminase 2 (ADA2) deficiency is a rare autosomal recessive autoinflammatory disorder characterized by systemic vasculitis, recurrent stroke, and immunodeficiency. This results from the biallelic loss-of-function variants of ADA2, leading to enzymatic dysfunction and endothelial impairment. Although it is commonly diagnosed during childhood, adult-onset cases with milder phenotypes have also been reported.We report a case of adult-onset ADA2 deficiency that presented with recurrent juvenile stroke and systemic vasculitis.A 42-year-old female with recurrent juvenile stroke and systemic vasculitis symptoms was diagnosed with ADA2 deficiency by genetic testing. The patient had a known pathogenic variant, c.139G>C (p.Gly47Arg), in a homozygous state. Given the mild phenotype and stable condition, the patient continued long-term aspirin therapy without additional immunosuppressive treatment.This case highlights the importance of considering ADA2 deficiency in patients with unexplained stroke and recurrent vasculitis, particularly those with a history of parental consanguinity. Measurement of serum ADA activity may serve as a potential screening tool for ADA2 deficiency, especially in settings in which genetic testing is not readily available. J. Med. Invest. 72 : 430-433, August, 2025. (Keyword) Humans / Female / Adenosine Deaminase / Adult / Cerebral Infarction / Recurrence / Agammaglobulinemia / Severe Combined Immunodeficiency / Intercellular Signaling Peptides and Proteins (Link to Publication Site) ● Publication site (DOI): 10.2152/jmi.72.430 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 41183948 ● Search Scopus @ Elsevier (PMID): 41183948 ● Search Scopus @ Elsevier (DOI): 10.2152/jmi.72.430 (DOI: 10.2152/jmi.72.430, PubMed: 41183948)

Proceeding of Domestic Conference:

1.	KASAYA Kokone, Ryohei Nakao, Hiroyuki Kondo, 森本優子, 川北梨愛, Yoshimichi Miyazaki, Hiroki Yamazaki, 渡部真志, Naoko Matsui and Yuishin Izumi : 重症筋無力症の個別化医療に向けた原因解明, 第67回日本神経学会学術大会, May 2026.
2.	Kazuki Sogawa, Ryohei Nakao, 谷美紀, Kenta Hanada, Tatsuya Fukumoto, Yuki Yamamoto, Hiroki Yamazaki, Yusuke Osaki, 髙松直子, Nobuaki Yamamoto, Naoko Matsui and Yuishin Izumi : フィッシャー症候群の臨床的・電気生理学的特徴, 第67回日本神経学会学術大会, May 2026.
3.	Ryohei Nakao, Kazuki Sogawa, KASAYA Kokone, 谷美紀, 髙松直子, Kenta Hanada, Tatsuya Fukumoto, Yuki Yamamoto, Hiroki Yamazaki, Yusuke Osaki, Nobuaki Yamamoto, Naoko Matsui and Yuishin Izumi : COVID-19流行に伴うギラン/バレー症候群の疫学変化, 第67回日本神経学会学術大会, May 2026.
4.	Ryohei Nakao, Hiromitsu Takizawa, Yuishin Izumi and Naoko Matsui : 重症筋無力症の難治化に影響する因子の検討, 第45回日本胸腺研究会, Feb. 2026.
5.	Ryohei Nakao, KITAMURA Mikaze, Naoko Matsui and Yuishin Izumi : 難治性重症筋無力症患者における臨床像ならびにB細胞の検討, 第37回日本神経免疫学会学術集会, Aug. 2025.
6.	Ryohei Nakao, Yuki Yamamoto, Hiroki Yamazaki, Ryosuke Miyamoto, Naoko Matsui and Yuishin Izumi : 前庭機能障害を伴いMPZ遺伝子の新規バリアントを認めたCharcot-Marie-Tooth病の1B型の1例, 第117回日本神経学会中国・四国地方会, Jun. 2025.
7.	Ryohei Nakao, 北村美風, Naoko Matsui and Yuishin Izumi : 難治性重症筋無力症患者における臨床像ならびにB細胞の検討, 第66回日本神経学会学術大会, May 2025.