Session Details

[OE5]Oral English Session 5 Neurogenetics

Fri. Oct 11, 2024 10:00 AM - 10:50 AM JST
Fri. Oct 11, 2024 1:00 AM - 1:50 AM UTC
Room 5(Highness Hall, 2F)
Chairs:Satoko Miyatake(Department of Clinical Genetics, Yokohama City University Hospital), Yukiko Hayashi(Tokyo Medical University)

[OE5-1]Mn007 elongates matriglycan in Fukuyama Muscular Dystrophy

Mariko Taniguchi-Ikeda1, Michiyo Koyanagi2, Tatsuo Maruyama3, Youichiro Harada4, Takashi Aoi2 (1.Department of Clinical Genetics, Fujita Health University Hospital, Aichi, Japan, 2.iPS cell applications, Kobe University Graduate School of Medicine, Kobe, Japan, 3.Chemical Science and Engineering, Kobe University Graduate School of Engineering, Kobe, Japan, 4.Department of Glyco-Oncology, Osaka International Cancer Institute, Osaka, Japan)

[OE5-2]Molecular characterization of SCA27B (GAA-FGF14 ataxia) in Japanese by nanopore sequencing

Satoko Miyatake1,2, Hiroshi Doi3, Hiroaki Yaguchi4, Eriko Koshimizu1, Takeshi Mizuguchi1, Hiroyuki Morino5, Yuishin Izumi6, Takayoshi Shimohata7, Kunihiro Yoshida8,9, Hiroaki Adachi10, Fumiaki Tanaka3, Ichiro Yabe4, Matsumoto Naomichi1 (1.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 2.Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan, 3.Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 4.Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan, 5.Department of Medical Genetics, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan, 6.Department of Neurology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan, 7.Department of Neurology, Gifu University Graduate School of Medicine, Gifu, Japan, 8.Department of Neurology, JA Nagano Koseiren, Kakeyu-Misayama Rehabilitation Center Kakeyu Hospital, Ueda, Japan, 9.Department of Brain Disease Research, Shinshu University School of Medicine, Matsumoto, Japan, 10.Department of Neurology, University of Occupational and Environmental Health School of Medicine, Kitakyushu, Japan)

[OE5-4]Clinical study on spinocerebellar ataxia type 31 (SCA31), a form of ataxia common in Japanese

Kinya Ishikawa1,2, Hanako Aoki2, Akiko Amano2, Reiko Yajima2, Miwa Higashi2, Ryo Iwase2, Tatsuhiko Sano2, Motohiro Suzuki2, Taro Ishiguro2, Tetsuya Nagata2, Takanori Yokota2 (1.Department of Personalized Genomic Medicine for Health, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan, 2.Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan)

[OE5-5]Whole genome sequencing reveals East Asian specific rare variants in CDH23 associated with dementia with Lewy bodies

Tetsuaki Kimura1, Kosuke Fujita2, Takashi Sakurai2, Shumpei Niida3, Kouichi Ozaki1,4,5, Daichi Shigemizu1,5 (1.Medical Genome Center, Research Institute, National Center for Geriatrics and Gerontology, Obu, Japan, 2.Department of Prevention and Care Science, Research Institute, National Center for Geriatrics and Gerontology, Obu, Japan, 3.Research Institute, National Center for Geriatrics and Gerontology, Obu, Japan, 4.RIKEN Center for Integrative Medical Sciences, Yokohama, Janpan, 5.Department of Cardiovascular Medicine, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan)