Conflict of Interest: None
CACNA1A Nonsense Mutation is Associated With Basilar-Type Migraine and Episodic Ataxia Type 2
Article first published online: 27 MAY 2009
© 2009 the Authors. Journal compilation © 2009 American Headache Society
Headache: The Journal of Head and Face Pain
Volume 49, Issue 7, pages 1042–1046, July/August 2009
How to Cite
Robbins, M. S., Lipton, R. B., Laureta, E. C. and Grosberg, B. M. (2009), CACNA1A Nonsense Mutation is Associated With Basilar-Type Migraine and Episodic Ataxia Type 2. Headache: The Journal of Head and Face Pain, 49: 1042–1046. doi: 10.1111/j.1526-4610.2009.01464.x
- Issue published online: 6 JUL 2009
- Article first published online: 27 MAY 2009
- Accepted for publication March 26, 2009.
- basilar-type migraine;
- CACNA1A gene;
- episodic ataxia type 2;
- nonsense mutation
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.