[1P-035] Functional analysis of novel mutation and variants in the SPG26 causative gene B4GALNT1

^〇Kei-ichiro Inamori¹, Fumi Shishido², Jia-Chen Hsu¹, Masakazu Nagafuku¹, Takahiro Nitta³, Katsuya Nakamura^4,5, Naomi Tsuchida⁶, Junji Ikeda⁴, Minori Kodaira⁴, Akira Togayachi⁷, Jun-ichi Furukawa⁸, Yoshiki Yamaguchi⁹, Kiyoko F Aoki-Kinoshita⁷, Tadashi Kaname¹⁰, Yutaka Nakamura², Isao Ohno², Masahiko Nakamura¹¹, Takayoshi Shimohata¹², Naomichi Matsumoto⁶, Tomoki Kosho ^5,13, Yoshiki Sekijima⁴, Kengo Kinoshita¹⁴, Shoko Nishihara⁷, Jin-ichi Inokuchi¹⁵ (1.Division of Glycopathology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, 2.Center for Medical Education, Faculty of Medicine, Tohoku Medical and Pharmaceutical University, 3.Institute for Environmental and Gender-Specific Medicine, Graduate School of Medicine, Juntendo University, 4.Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, 5.Center for Medical Genetics, Shinshu University Hospital, 6.Department of Human Genetics, Yokohama City University Graduate School of Medicine, 7.Glycan and Life System Integration Center (GaLSIC), Soka University, 8.Institute for Glyco-core Research (iGCORE), Nagoya University, 9.Division of Structural Glycobiology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, 10.Department of Genome Medicine, National Center for Child Health and Development, 11.Department of neurosurgery, Matsumoto City Hospital, 12.Department of Neurology, Gifu University Graduate School of Medicine, 13.Department of Medical Genetics, Shinshu University School of Medicine, 14.Tohoku Medical Megabank Organization, Tohoku University, 15.Forefront Research Center, Graduate School of Science, Osaka University)

キーテクノロジー：LC-MS

ガングリオシド、B4GALNT1、遺伝性痙性対麻痺