Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations.

doi:10.1002/ana.410370207

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Article

Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations.

Annals of neurology - 1 Feb 1995

Dubourg O, Dürr A, Cancel G, Stevanin G, Chneiweiss H, Penet C, Agid Y, Brice A

Abstract excerpt

Autosomal dominantly inherited ataxias are a clinically and genetically heterogeneous group of neurodegenerative disorders. The gene involved in one subtype, spinocerebellar ataxia 1 (SCA1), was first localized to chromosome 6p. An unstable CAG repeat has been identified as the responsible mutati...

Topics

Adult
Age of Onset
Cerebellar Ataxia
Child
Chromosomes, Human, Pair 6
DNA
Female
Genes, Dominant
Humans
Male
Middle Aged
Mutation
Repetitive Sequences, Nucleic Acid

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