Article
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...
Topics
- Adolescent
- Adult
- Age of Onset
- Aged
- Asian People
- Calcium Channels, T-Type
- Exome
- Female
- Fibroblasts
- Genes, Dominant
- Genetic Linkage