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CACNA1A Nonsense Mutation is Associated With Basilar-Type Migraine and Episodic Ataxia Type 2

Authors

  • Matthew S. Robbins MD,

    1. From the Montefiore Headache Center, Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, NY, USA (M.S. Robbins, R.B. Lipton, and B.M. Grosberg); Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY, USA (R.B. Lipton); Division of Child Neurology, Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, NY, USA (E.C. Laureta).
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  • Richard B. Lipton MD,

    1. From the Montefiore Headache Center, Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, NY, USA (M.S. Robbins, R.B. Lipton, and B.M. Grosberg); Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY, USA (R.B. Lipton); Division of Child Neurology, Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, NY, USA (E.C. Laureta).
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  • Emma C. Laureta MD,

    1. From the Montefiore Headache Center, Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, NY, USA (M.S. Robbins, R.B. Lipton, and B.M. Grosberg); Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY, USA (R.B. Lipton); Division of Child Neurology, Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, NY, USA (E.C. Laureta).
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  • Brian M. Grosberg MD

    1. From the Montefiore Headache Center, Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, NY, USA (M.S. Robbins, R.B. Lipton, and B.M. Grosberg); Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY, USA (R.B. Lipton); Division of Child Neurology, Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, NY, USA (E.C. Laureta).
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  • Conflict of Interest: None

M.S. Robbins, The Montefiore Headache Center, 1575 Blondell Avenue, Suite 225, Bronx, NY 10461, USA.

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.

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