At present, very little is known about the genetics of common migraine, but it is most likely a multifactorial disease. The only genetic involvement has been described for the 19p13 region where the gene for familial hemiplegic migraine (FHM) is located. We recently characterized new mutations and polymorphisms in Italian families with FHM. We aimed to perform a genetic analysis of familial migraine in pedigrees of Italian origin, by analyzing linkage of the affected phenotype to the CACNA1A gene and to other selected genes. As candidates, genes coding od or other proteins interacting or modulating the Ca 2+ channel al subunit have been selected: ten α1, four β, α2/ Δ, 5 γ genes. Up to now 29 patients with familial MA (n=15) or MO (n=14) presenting migraine in at least two generations have been collected, for a total of 83 subjects. In 3 families with familial MA and in 5 families with familial MO (39 subjects), a linkage study to the CACNA1A, CACNA1E, CACNA1D was conducted. Polymorphic microsatellites mapped in the regions surrounding the location of candidates were studied. For the remaining 21 patients with familial migraine we are sampling additional members of pedigrees. This kind of approach will be extended also to 6 FHM families not linked to chromosome 19p13, and to additional families. Preliminary results suggest linkage to CACNA1A, A1E, and AID genes in four, two, and one family, respectively. A search for mutations will be undertaken and the contribution of intragenic polymorphisms to phenotypic variability of the disease will be investigated.
|Issue number||4 SUPPL.|
|Publication status||Published - 2000|
ASJC Scopus subject areas
- Clinical Neurology