Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families.
Familial hemiplegic migraine (FHM) is a rare autosomal dominant form of migraine with aura. This disease has been associated with missense mutations in the CACNA1A and ATP1A2 genes. The aim of this study was to identify whether CACNA1A and ATP1A2 are or not related to Brazilian FHM. Here we screened four Brazilian FHM families (total of 26 individuals--13 affected and 13 asymptomatic or normal) for mutations in both genes. We found an amino acid change in a member of family FHM-D (Arg2206Gly). However since this alteration is not present in all affected individuals and is present in one asymptomatic individual it should be considered a polymorphism. Further studies with additional families will be necessary to reveal the importance of both CACNA1A and ATP1A2 genes on the pathogeneses of FHM in Brazil and to test the third gene (SCN1A) in these FHM families.
Lopes
Luciana R
LR
Instituto de Ensino e Pesquisa, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil, and Leiden University Medical Center, The Netherlands. lucianarl@einstein.br
Peres
Mario Fernando Prieto
MF
Vanmolkot
Kaate R J
KR
Tobo
Patrícia R
PR
Zukerman
Eliova
E
Frants
Rune R
RR
van den Maagdenberg
Arn M J M
AM
Moreira-Filho
Carlos Alberto
CA
D000328:Adult; D001938:Brazil; D015220:Calcium Channels / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D020325:Migraine with Aura / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics*; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; D005819:Genetic Markers; D000254:Sodium-Potassium-Exchanging ATPase; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type; C498531:ATP1A2 protein, human