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- Title
Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia.
- Authors
Jen, J C; Yue, Q; Karrim, J; Nelson, S F; Baloh, R W
- 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.
- Publication
Journal of neurology, neurosurgery, and psychiatry, 1998, Vol 65, Issue 4, p565
- ISSN
0022-3050
- Publication type
Journal Article
- DOI
10.1136/jnnp.65.4.565