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Article

SCA42 mutation analysis in a case series of Japanese patients with spinocerebellar ataxia.

Journal of human genetics - 1 Sept 2017

Kimura Mari, Yabe Ichiro, Hama Yuka, Eguchi Katsuki, Ura Shigehisa, Tsuzaka Kazufumi, Tsuji Shoji, Sasaki Hidenao

Abstract excerpt

Spinocerebellar ataxia (SCA) is a group of dominantly inherited heterogeneous disorders in which 43 subtypes have been identified to date. Recently, Japanese and French families with SCA type 42 (SCA42) were found to have a missense mutation (c.5144G>A; R1715H) in CACNA1G. We performed genetic analysis of 84 unrelated families to find the prevalence of SCA42 in Japan. Two families were found to have the...

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PMID: 28490766
DOI: 10.1038/jhg.2017.51

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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