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A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia.

Molecular brain - 29 Dec 2015

Morino Hiroyuki, Matsuda Yukiko, Muguruma Keiko, Miyamoto Ryosuke, Ohsawa Ryosuke, Ohtake Toshiyuki, Otobe Reiko, Watanabe Masahiko, Maruyama Hirofumi, Hashimoto Kouichi, Kawakami Hideshi

Abstract excerpt

BACKGROUND: Spinocerebellar ataxia (SCA) is a genetically heterogeneous disease. To date, 36 dominantly inherited loci have been reported, and 31 causative genes have been identified. RESULTS: In this study, we analyzed a Japanese family with autosomal dominant SCA using linkage analysis and exome sequencing, and identified CACNA1G, which encodes the calcium channel CaV3.1, as a new causative gene. The same...

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PMID: 26715324
DOI: 10.1186/s13041-015-0180-4
PMCID: PMC4693440

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