Article
Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.
Annals of neurology - 1 Dec 1997
Gomez C M, Thompson R M, Gammack J T, Perlman S L, Dobyns W B, Truwit C L, Zee D S, Clark H B, Anderson J H
Abstract excerpt
Spinocerebellar ataxia type 6 (SCA6) was recently identified as a form of autosomal dominant cerebellar ataxia associated with small expansions of the trinucleotide repeat (CAG)n in the gene CACNL1A4 on chromosome 19p13, which encodes the alpha1 subunit of a P/Q-type voltage-gated calcium channel...
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