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

Joanna C. Jen, Qing Yue, Juliana Karrim, Stanley F. Nelson, Robert W. Baloh

Research output: Contribution to journalArticlepeer-review

97 Scopus citations

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.

Original languageEnglish
Pages (from-to)565-568
Number of pages4
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume65
Issue number4
DOIs
StatePublished - Oct 1998
Externally publishedYes

Keywords

  • Calcium channel
  • Hereditary ataxia
  • SCA6
  • Spinocerebellar ataxia

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