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Joanna C. Jen, MD, PhD; Gilbert W. Kim, BS; Kristen A. Dudding, BA; Robert W. Baloh, MD

Arch Neurol. 2004;61:926-928.

Background  Mutations in CACNA1A, encoding a neuronal calcium channel subunit, and ATP1A2, encoding a catalytic subunit of a sodium-potassium–ATPase, have been found in some families with dominantly inherited hemiplegic migraine.

Objective  To determine the prevalence of mutations in these genes in individuals with different migraine syndromes.

Design  Prospective screening study.

Setting  University outpatient neurology clinic.

Subjects  Probands of 19 families with hemiplegic migraine, 7 with basilar migraine, 25 with migraine without aura, and 18 with migraine with aura, as well as 40 unaffected relatives of probands.

Interventions  All known exons and flanking introns of CACNA1A and ATP1A2 were subjected to denaturing high-performance liquid chromatography analysis of polymerase chain reaction–amplified genomic DNA. Exons with atypical elution patterns were sequenced by standard techniques.

Main Outcome Measures  Presence of mutations in CACNA1A and ATP1A2.

Results  A single mutation (T666M) was found in CACNA1A in a patient with hemiplegic migraine and ataxia. No other mutation was identified in either gene. The frequency of a previously reported intronic insertion in ATP1A2 was not significantly different between patients with migraine and control subjects.

Conclusion  These 2 genes are not associated with more common migraine syndromes and are not the most common hemiplegic migraine genes.

From the Department of Neurology, University of California, Los Angeles, Los Angeles, Calif.

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