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Mutation Analysis of the CACNA1A Calcium Channel Subunit Gene in 27 Patients With Sporadic Hemiplegic Migraine
Gisela Terwindt, MD, PhD;
Esther Kors, MD;
Joost Haan, MD, PhD;
Frans Vermeulen;
Arn van den Maagdenberg, PhD;
Rune Frants, PhD;
Michel Ferrari, MD, PhD;
for the International Hemiplegic Migraine Research Group
Arch Neurol. 2002;59:1016-1018.
Background Familial hemiplegic migraine is a rare autosomal dominant subtype of
migraine with aura that in half of the families is caused by mutations in
the CACNA1A gene on chromosome 19p13. In sporadic
hemiplegic migraine (SHM), that is, hemiplegic migraine without affected family
members, the contribution of the CACNA1A gene is
unknown.
Objective To investigate the involvement of the CACNA1A
calcium channel subunit gene in SHM.
Methods We screened 27 patients with SHM for mutations in the CACNA1A gene by a combination of single-strand conformational polymorphism
analysis and sequence analysis.
Results One patient with SHM also had ataxia, nystagmus, and cerebellar atrophy
on computed tomography and carried a T666M mutation. Another patient with
SHM who had no cerebellar signs carried an R583Q mutation. No mutations or
interictal neurological abnormalities were found in the remaining 25 patients
with SHM.
Conclusions Most patients with SHM do not have a CACNA1A
mutation. The results of this study, combined with the findings reported in
the literature, show that the presence of cerebellar symptoms in addition
to the hemiplegic attacks increases the chance of finding a CACNA1A mutation. In addition, to our knowledge, we have found a first
patient with SHM without cerebellar signs with a mutation.
From the Department of Neurology (Drs Terwindt, Kors, Haan, and Ferrari)
and Department of Human Genetics, Leiden University Medical Centre (Mr Vermeulen
and Drs van den Maagdenberg and Frants), Leiden, the Netherlands; and the
Department of Neurology, Rijnland Hospital, Leiderdorp, the Netherlands (Dr
Haan).
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