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Article

Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls.

Journal of the neurological sciences - 26 Nov 1998

Shizuka M, Watanabe M, Ikeda Y, Mizushima K, Okamoto K, Shoji M

Abstract excerpt

Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant spinocerebellar degenerative disease caused by CAG repeat expansions in the human alpha1A voltage-dependent calcium channel subunit gene (CACNL1A4). We analyzed 15 SCA6 patients in 14 unrelated Japanese families and 52 healthy Japanese aged over 74 years. Sequence analysis was performed to determine the correct number of CAG repeats. The expanded CAG...

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PMID: 9879686
DOI: 10.1016/s0022-510x(98)00270-6

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Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls.PMID 9879686Read ↗

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