Journal
JOURNAL OF HUMAN GENETICS
Volume 62, Issue 9, Pages 857-859Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/jhg.2017.51
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Funding
- Ministry of Health, Welfare and Labour, Japan
- Takeda Science Foundation.Takeda Foundation
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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 previously reported missense mutation. Clinical presentations of the affected members of these families were similar to those of the previously reported French and Japanese families. Our study demonstrates that SCA42 exists in small numbers in Japan, and further supports the idea that SCA42 is a slowly progressive, pure cerebellar ataxia.
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