66th Annual Meeting of the Japanese Society of Neurology
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Session Details

Oral Session

[O-42]Oral Session 42　Neurogenetics 2

Sat. May 24, 2025 10:30 AM - 12:00 PM JST
Sat. May 24, 2025 1:30 AM - 3:00 AM UTC
第06会場(大阪国際会議場10F 会議室1008)
Chair: Jun Mitsui（Department of Precision Medicine Neurology, Graduate School of Medicine, The University of Tokyo, Japan）

[O-42-1]Alexander disease with GFAP mutation presenting as ischemic stroke due to basilar artery dissection

Tomoaki Miyake1, Akihisa Fukunaga2, Akinobu Hori1, Hiroki Ito3, Ken Yasuda1, Tomokatsu Yoshida4, Ryosuke Takahashi1, Riki Matsumoto1, Takakuni Maki1 (1.Department of Neurology, Kyoto University Graduate School of Medicine, Japan, 2.Department of Neurology, Japanese Red Cross Fukui Hospital, Japan, 3.Department of Neurology, Tenri Hospital, Japan, 4.Department of Neurology, JCHO Kobe Central Hospital, Japan)

[O-42-2]A pilot study of quantitative testing of Sudo motor function in patients with Fabry disease

Katsuya Nakamura1,2, Teruya Morizumi1, Tsuneaki Yoshinaga1, Yoshiki Sekijima1 (1.Department of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine, Japan, 2.Center for Medical Genetics, Shinshu University Hospital, Japan)

[O-42-3]Targeted nanopore sequencing using the Flongle device to identify mitochondrial DNA variants

Shintaro Akamatsu1, Satomi Mitsuhashi1,2, Kaima Soga1, Heisuke Mizukami1, Makoto Shiraishi1, Martin C Frith3,4,5, Yoshihisa Yamano1,2 (1.Department of Neurology, St. Marianna University School of Medicine, Japan, 2.Department of Rare Diseases Research, Institute of Medical Science, St. Marianna University School of Medicine, Japan, 3.Artificial Intelligence Research Center, AIST, Tokyo, Japan, 4.Computational Bio Big-Data Open Innovation Laboratory, AIST, Tokyo, Japan, 5.Graduate School of Frontier Sciences, University of Tokyo, Japan)

[O-42-4]Application status of neuromuscular diseases following revised ethical guidelines on PGT-M

Yoshiharu Nakaoka1, Haruhisa Konishi1, Daisuke Kadokami1, Michiko Ammae1, Tatsuya Nakano1, Yoshiharu Morimoto2 (1.IVF Namba clinic, Japan, 2.HORAC Grand Front Osaka clinic, Japan)

[O-42-5]Hereditary congenital cataract with spastic paraplegia in a Japanese family

Shiroh Miura1, Koji Namiguchi2, Sayaka Matsumoto1, Yasumasa Ohyagi1, Emina Watanabe3, Hiroki Shibata3 (1.Department of Neurology and Geriatric Medicine, Ehime University Graduate School of Medicine, Japan, 2.Department of Ophthalmology, Ehime University School of Medicine, Japan, 3.Division of Genomics, Medical Institute of Bioregulation, Kyushu University, Japan)

[O-42-6]Analysis of Four Cases of Hereditary Creutzfeldt-Jakob Disease with the PRNP V180I Mutation

Yoshiki Kanda, Masahiro Ando, Nao Yamanaka, Takuma Adachi, Takuma Mori, Fumikazu Kojima, Akiko Yoshimura, Satoshi Oyama, Yujirou Higuchi, Yusuke Sakiyama, Hiroshi Takashima (Kagoshima University Hospital, Department of Neurology, Japan)
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