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J Neurol Neurosurg Psychiatry. 1998 Oct;65(4):565-8.

Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia.

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  • 1Department of Neurology, UCLA School of Medicine, Los Angeles, California, USA.

Abstract

The SCA6 mutation, a small expansion of a CAG repeat in a calcium channel gene CACNA1A, was identified in three pedigrees. Point mutations in other parts of the gene CACNA1A were excluded and new clinical features of SCA6 reported--namely, central positional nystagmus and episodic ataxia responsive to acetazolamide. The three allelic disorders, episodic ataxia type 2, familial hemiplegic migraine, and SCA6, have overlapping clinical features.

PMID:
9771787
[PubMed - indexed for MEDLINE]
PMCID:
PMC2170265
Free PMC Article
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