Article
First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China.
PloS one - 1 Jan 2017
Naito Hiroyuki, Takahashi Tetsuya, Kamada Masaki, Morino Hiroyuki, Yoshino Hiroyo, Hattori Nobutaka, Maruyama Hirofumi, Kawakami Hideshi, Matsumoto Masayasu
Abstract excerpt
Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant cerebellar ataxia that is variably accompanied by epilepsy and other neurological disorders. It is caused by an expansion of the ATTCT pentanucleotide repeat in intron 9 of the ATXN10 gene. Until now, SCA10 was almost exclusively found in the American continents, while no cases had been identified in Japan. Here, we report the first case of an SCA10...
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