Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia.
case_report · Level V
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- Record sourced from PubMed, PMID 9771787.
- Also identified by PMC identifier 2170265.
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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.
Medical subject headings
- Acetazolamide
- Anticonvulsants
- Posture
- Spinocerebellar Degenerations
- Vertigo