Thomas Wieser, Christoph Mueller, Stefan Evers, Stephan Zierz, Thomas Deufel
Absence of Known Familial Hemiplegic Migraine
(FHM) Mutations in the CACNA1A Gene in
Patients with common Migraine: Implications for
Genetic Testing
Mutations in the gene CACNA1A have been known to
cause familial hemiplegic migraine (FHM); it has been
suggested, based on indirect genetic studies, that this
gene may also be involved in common forms of migraine.
To obtain data from direct gene analysis to test
this hypothesis, we investigated 143 patients with
common migraine, irrespective of their family history,
for the presence of mutations known to result in the
FHM phenotype; the mutations V714A, R192Q, R583Q,
T666M, V1457L, and I1811L were absent in our patient
sample. Furthermore, exons 4, 16, 17, and 36 were
completely screened by single-strand conformation
polymorphism (SSCP), and no other, hitherto unknown,
mutations were detected. Bearing in mind
that, in particular, the T666M mutation contributes to a
large proportion of FHM linked to chromosome 19, we
conclude that common migraine is distinct from FHM
in its molecular basis and, therefore, most likely also in
its pathophysiology. The possibility, however, of the
existence of allelic disorders, with mutations located in
other regions of the CACNA1A gene, cannot be ruled
out. Molecular testing, therefore, is at present not a
feasible option for the diagnosis and classification of
migraine.
Clinical Chemical Laboratory Medicine, Walter de Gruyter
Print ISSN: 1434-6621
Volume: 41, 03/2003
Pages: 272 - 275
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