Case series: Downbeat nystagmus in SCA27B

Shirai, S; Mizushima, K; Fujiwara, K; Koshimizu, E; Matsushima, M; Miyatake, S; Iwata, I; Yaguchi, H; Matsumoto, N; Yabe, I

Yabe, I (通讯作者),Hokkaido Univ, Fac Med, Dept Neurol, N15W7,Kita ku, Sapporo 0608638, Japan.;Yabe, I (通讯作者),Hokkaido Univ, Grad Sch Med, N15W7,Kita ku, Sapporo 0608638, Japan.

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2023; 454 ():

Abstract

Background: Spinocerebellar ataxia (SCA) 27B, first reported in late 2022, is caused by the abnormal expansion of GAA repeats in the first intron of t......

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