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

doi:10.1111/j.1600-0404.1999.tb00656.x

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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). RE...

Topics

Adult
Calcium Channels
Female
Genetic Markers
Genetic Testing
Humans
Male
Middle Aged
Motor Neurons
Neural Conduction
Pedigree
Phenotype
Spain
Spinocerebellar Degenerations
Trinucleotide Repeats

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