CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2: Brief communications

Matthew S. Robbins, Richard B. Lipton, Emma C. Laureta, Brian M. Grosberg

Research output: Contribution to journalArticle

15 Scopus citations

Abstract

Mutations in the CACNA1A gene on chromosome 19 have been associated with a variety of clinical disorders, including familial hemiplegic migraine type 1 and episodic ataxia type 2 (EA2). We report a patient with 2 distinct attack types, one representing EA2 and the other, basilar-type migraine. Genetic testing revealed a novel nonsense mutation in the CACNA1A gene at codon position 583. Treatment with acetazolamide relieved both types of attacks. We hypothesize that the CACNA1A gene mutation may contribute to both typical EA2 and typical basilar-type migraine, extending the spectrum of clinical manifestations associated with CACNA1A mutations.

Original languageEnglish (US)
Pages (from-to)1042-1046
Number of pages5
JournalHeadache
Volume49
Issue number7
DOIs
StatePublished - Jul 1 2009

Keywords

  • Basilar-type migraine
  • CACNA1A gene
  • Episodic ataxia type 2
  • Nonsense mutation

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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