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CACNA1A Nonsense Mutation is Associated With Basilar‐Type Migraine and Episodic Ataxia Type 2
Author(s) -
Robbins Matthew S.,
Lipton Richard B.,
Laureta Emma C.,
Grosberg Brian M.
Publication year - 2009
Publication title -
headache: the journal of head and face pain
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.14
H-Index - 119
eISSN - 1526-4610
pISSN - 0017-8748
DOI - 10.1111/j.1526-4610.2009.01464.x
Subject(s) - nonsense mutation , mutation , migraine , medicine , genetics , ataxia , nonsense , familial hemiplegic migraine , migraine with aura , gene , biology , missense mutation , aura , psychiatry
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.