Article
Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese.
Journal of neurology, neurosurgery, and psychiatry - 18 Nov 2024
Miyatake Satoko, Doi Hiroshi, Yaguchi Hiroaki, Koshimizu Eriko, Kihara Naoki, Matsubara Tomoyasu, Mori Yasuko, Kunieda Kenjiro, Shimizu Yusaku, Toyota Tomoko, Shirai Shinichi, Matsushima Masaaki, Okubo Masaki, Wada Taishi, Kunii Misako, Johkura Ken, Miyamoto Ryosuke, Osaki Yusuke, Miyama Takabumi, Satoh Mai, Fujita Atsushi, Uchiyama Yuri, Tsuchida Naomi, Misawa Kazuharu, Hamanaka Kohei, Hamanoue Haruka, Mizuguchi Takeshi, Morino Hiroyuki, Izumi Yuishin, Shimohata Takayoshi, Yoshida Kunihiro, Adachi Hiroaki, Tanaka Fumiaki, Yabe Ichiro, Matsumoto Naomichi
Abstract excerpt
BACKGROUND: Although pure GAA expansion is considered pathogenic in SCA27B, non-GAA repeat motif is mostly mixed into longer repeat sequences. This study aimed to unravel the complete sequencing of FGF14 repeat expansion to elucidate its repeat motifs and pathogenicity. METHODS: We screened FGF14 repeat expansion in a Japanese cohort of 460 molecularly undiagnosed adult-onset cerebellar ataxia patients and 1022...
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