Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations.

doi:10.1212/wnl.49.5.1247

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Article

Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations.

Neurology - 1 Nov 1997

Geschwind D H, Perlman S, Figueroa K P, Karrim J, Baloh R W, Pulst S M

Abstract excerpt

Spinocerebellar ataxia type 6 (SCA6) is the most recently identified mutation causing autosomal-dominant cerebellar ataxia without retinal degeneration (ADCA). The SCA6 mutation is allelic with episodic ataxia type 2 (EA-2), but the two differ clinically because of the presence of progressive, ra...

Topics

Adolescent
Adult
Alleles
Family Health
Female
Gene Frequency
Genotype
Humans
Male
Middle Aged
Mutation
Pedigree
Phenotype
Spinocerebellar Degenerations
Trinucleotide Repeats

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