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, rather than episodic, ataxia in SCA6. SCA6 accounts for 12% of families with ADCA in an ethnically heterogeneous...
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