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Article

Spinocerebellar ataxia type 1: Clinical and neurophysiological characteristics in German kindreds.

Acta neurologica Scandinavica - 1 Dec 1995

Schöls L, Riess O, Schöls S, Zeck S, Amoiridis G, Langkafel M, Epplen J T, Przuntek H

Abstract excerpt

Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by the expansion of an unstable (CAG)n repeat on chromosome 6p. We investigated 36 German families suffering from hereditary ataxias for the SCA1 mutation and elaborated clinical and neurophysiological characteristics. SCA1 accounts for 10-15% of dominant cerebellar ataxias in German kindreds. The clinical presentation...

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PMID: 8750114
DOI: 10.1111/j.1600-0404.1995.tb00484.x

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