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Article

Clinical features and genetic analysis of a Spanish family with spinocerebellar ataxia 6.

Acta neurologica Scandinavica - 1 Jan 1999

Arpa J, Cuesta A, Cruz-Martínez A, Santiago S, Sarriá J, Palau F

Abstract excerpt

OBJECTIVE: To present the clinical features and DNA analysis of a Spanish SCA6 family. MATERIAL AND METHODS: Four symptomatic members of the family (mean age at onset: 53.75+/-5.21) were examined. SCA6 CAG trinucleotide repeat was analysed in the proband by the polymerase chain reaction (PCR). RESULTS: Early dysphagia, ophthalmoparesis and neck dystonia in the oldest patient, without the loss of vibratory and...

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PMID: 9925237
DOI: 10.1111/j.1600-0404.1999.tb00656.x

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