Session Details

[O2]Oral Session 2 Neurogenetics

Thu. Oct 10, 2024 8:30 AM - 9:20 AM JST
Thu. Oct 10, 2024 11:30 PM - 12:20 AM UTC
Room 5(Highness Hall, 2F)
Chairs:Ichiro Yabe(Department of Neurology, Hokkaido University), Reiko Arakawa(National Center for Global Health and Medicine)

[O2-1]Spinal cord motor neuron phenotypes and polygenic risk scores in sporadic amyotrophic lateral sclerosis

Chris Kato1, Satoru Morimoto1,2, Shinichi Takahashi1,3, Shinichi Namba4, Qingbo Wang4,5, Yukinori Okada4,5,6, Hideyuki Okano1 (1.Keio University Regenerative Medicine Research Center, Kanagawa, Japan, 2.Division of Neurodegenerative Disease Research, Tokyo Metropolitan Institute for Geriatrics and Gerontology, Tokyo, Japan, 3.Department of Neurology and Cerebrovascular Medicine, Saitama Medical University International Medical Center, Saitama, Japan, 4.Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan, 5.Department of Genome Informatics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, 6.Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan)

[O2-2]Clinical and genetic characteristics of ALS patients with SOD1 mutation in Japan

Ryoichi Nakamura1, Masahiro Nakatochi2, Genki Tohnai1, Naoki Atsuta1, Daisuke Ito2, Masahisa Katsuno2, Yuishin Izumi3, Takehisa Hirayama4, Osamu Kano4, Nobutaka Hattori5, Rina Hashimoto6, Ikuko Aiba6, Shibuya Kazumoto7, Satoshi Kuwabara7, Naoki Suzuki8, Masashi Aoki8, Masaya Oda9, Mitsuya Morita10, Manabu Doyu1, Gen Sobue1 (1.Aichi Medical University, Nagakute, Japan, 2.Nagoya University, Nagoya, Japan, 3.Tokushima University, Tokushima, Japan, 4.Toho University, Tokyo, Japan, 5.Juntendo University, Tokyo, Japan, 6.National Hospital Organization Higashinagoya National Hospital, Nagoya, Japan, 7.Chiba University, Chiba, Japan, 8.Tohoku University, Sendai, Japan, 9.Vihara Hananosato Hospital, Miyoshi, Japan, 10.Jichi Medical University, Shimotsuke, Japan)

[O2-3]Three-year experiences of viltolarsen treatment in pediatric patients with Duchenne muscular dystrophy

Tomoko Lee, Yoshiyuki Katayama, Miki Matsui, Tomohiro Kakuta, Eisuke Terasaki, Sachi Tokunaga, Naoko Taniguchi, Hideki Shimomura, Yasuhiro Takeshima (Department of Pediatrics, Hyogo Medical University)

[O2-4]A case of spinal muscular atrophy in which risdiplam administration is thought to have affected the reproductive organs

Toshio Saito1, Yoshiko Koyanagi2, Yasuo Hara3, Momoyo Sonoda2, Hisahide Nishio4 (1.Division of Child Neurology, Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, Toyonaka, Japan, 2.Sonoda Momoyo ART clinic, 3.Hara clinic, 4.Faculty of Rehabilitation, Kobe Gakuin University)

[O2-5]Deficiency of ASD top gene SCN2A in mouse mPFC models schizophrenia

Kazuhiro Yamakawa, Toshimitsu Suzuki (Department of Neurodevelopmental Disorder Genetics, Institute of Brain Sciences, Nagoya City University Graduate School of Medical Sciences)