Article
A Japanese Family of Spinocerebellar Ataxia Type 21: Clinical and Neuropathological Studies.
Cerebellum (London, England) - 1 Oct 2018
Yahikozawa Hiroyuki, Miyatake Satoko, Sakai Toshiaki, Uehara Takeshi, Yamada Mitsunori, Hanyu Norinao, Futatsugi Yasuhiro, Doi Hiroshi, Koyano Shigeru, Tanaka Fumiaki, Suzuki Atsushi, Matsumoto Naomichi, Yoshida Kunihiro
Abstract excerpt
Spinocerebellar ataxia type 21 (SCA21) is a rare subtype of autosomal dominant cerebellar ataxias, which was first identified in a French family and has been reported almost exclusively in French ancestry so far. We here report the first Japanese family with SCA21, in which all affected members examined carried a heterozygous c.509C > T:p.Pro170Leu variant in TMEM240. Their clinical features were summarized as a...
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