[Pe-031] English Poster Session 031「Cerebellar ataxia and Myelopathy 2」

Thu. May 30, 2024 5:45 PM - 7:05 PM Poster (Hall E, E Block, B2F, TIF)

Chair(s): Shuichi Igarashi (Niigata City General Hospital, Japan), Masashiro Sugawara (Neurology, Akita Univ. Graduate School of Med., Japan)

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[Pe-031-1] Clinical biomarker discovery for potential disease-modifying drug of Spinocerebellar ataxia type 31

Hanako Aoki¹, Takeru Honda², Akiko Amano¹, Miwa Higashi¹, Tetsuya Nagata¹, Takanori Yokota¹, Kinya Ishikawa³ (1.Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Japan, 2.Center for Personalized Medicine for Healthy Aging, Tokyo Medical and Dental University, Japan, 3.Department of Personalized Genomic Medicine for Health, Tokyo Medical and Dental University, Japan)

[Pe-031-2] Clinical characterization of KCNA2-related cerebellar ataxia in Taiwan

Ssu-ju Fu¹, Cheng-tsung Hsiao², Yi-chung Lee² (1.Graduate Institute of Physiology, College of Medicine, National Taiwan University, Taiwan, 2.Department of Neurology, the Neurological Institute, Taipei Veterans General Hospital, Taiwan)

[Pe-031-3] Prevalence of autosomal dominant spinocerebellar ataxias in Hokkaido

Keiichi Mizushima¹, Yuka Shibata², Shinichi Shirai¹, Masaaki Matsushima^1,2, Satoko Miyatake^3,4, Ikuko Iwata¹, Hiroaki Yaguchi¹, Naomichi Matsumoto³, Ichiro Yabe^1,2 (1.Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Japan, 2.Division of Clinical Genetics, Hokkaido University Hospital, Japan, 3.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan, 4.Department of Clinical Genetics, Yokohama City University Hospital, Japan)

[Pe-031-4] Autosomal dominant cerebellar ataxia associated with mutation in a dementia-associated gene ITM2B

Shih-yu Fang¹, Kuan-lin Lai^1,2,3, Yi-chung Lee^1,2,3 (1.Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taiwan, 2.School of Medicine, National Yang Ming Chiao Tung University, Taiwan, 3.Brain Research Center, National Yang Ming Chiao Tung University, Taiwan)

[Pe-031-5] The genetic analysis and clinical manifestations in one family with the diagnosis of CANVAS

Chika Matsuoka¹, Toru Yamashita¹, Ryuta Morihara¹, Yusuke Fukui¹, Yuji Takahashi², Hidehiro Mizusawa², Taijun Yunoki¹, Yumiko Nakano¹, Mami Takemoto¹, Emi Nomura¹, Yousuke Osakada¹, Yuki Taira¹, Tomohito Kawano¹, Hiroyuki Ishiura¹ (1.Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Japan, 2.Department of Neurology, National Center of Neurology and Psychiatry, Japan)

[Pe-031-6] Somatic mosaicism of the pentanucleotide repeats expansion in CANVAS

Taishi Wada¹, Hiroshi Doi¹, Natsumi Yamakawa¹, Mikiko Tada¹, Masaki Okubo¹, Naohisa Ueda², Haruko Nakamura¹, Misako Kunii¹, Yosuke Miyaji¹, Yuichi Higashiyama¹, Eriko Koshimizu³, Satoko Miyatake^3,4, Satoshi Fujii⁵, Hideyuki Takeuchi¹, Naomichi Matsumoto³, Fumiaki Tanaka¹ (1.Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan, 2.Department of Neurology, Yokohama City University Medical Center, Japan, 3.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan, 4.Department of Clinical Genetics, Yokohama City University Hospital, Japan, 5.Department of Molecular Pathology, Yokohama City University Graduate School of Medicine, Japan)