No mutations in CACNA1A and ATP1A2 in probands with common types of migraine
Joanna C Jen1, Gilbert W Kim, Kristen A Dudding
1Department of Neurology, University of California, Los Angeles, Los Angeles, CA 90095, USA. jjen@ucla.edu
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.
