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Article

Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.

Journal of neurology, neurosurgery, and psychiatry - 1 Jan 1998

Schöls L, Krüger R, Amoiridis G, Przuntek H, Epplen J T, Riess O

Abstract excerpt

OBJECTIVE: Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant cerebellar ataxia (ADCA) of which the mutation causing the disease has recently been characterised as an expanded CAG trinucleotide repeat in the gene coding for the alpha1A-subunit of the voltage dependent calcium channel. The aim was to further characterise the SCA6 phenotype METHODS: The SCA6 mutation was investigated in 69 German...

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Identifiers

PMID: 9436730
DOI: 10.1136/jnnp.64.1.67
PMCID: PMC2169927

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