Familial hemiplegic migraine: a ion channel disorder.
At present, little information is available on the genetics of common migraines, most likely to be considered a multifactorial disease. Recently, the CACNA1A gene encoding the brain-specific P/Q type calcium channel alpha(1) subunit, has been cloned and mutations in this gene, located on chromosome 19p13, have been shown to be involved in familial hemiplegic migraine (FHM), a rare autosomal dominantly inherited subtype of migraine with aura. Being part of the migraine spectrum, FHM represents a good model to study the genetics of more common forms of migraine. Different classes of mutations within the CACNA1A gene have been associated with different diseases, thus identifying a new member among 'channelopathies'. Variable clinical expression and genetic heterogeneity of FHM will be discussed.
Carrera
P
P
I.R.C.C.S. H San Raffaele, Laboratorio Biologia Molecolare Clinica, Milano, Italy. carrera.paola@hsr.it
Stenirri
S
S
Ferrari
M
M
Battistini
S
S
D015220:Calcium Channels / Q000235:genetics*; D006801:Humans; D020325:Migraine with Aura / Q000235:genetics*; D009154:Mutation; D018911:Trinucleotide Repeats; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type