Mutational analysis of the anion exchanger 3 gene in familial paroxysmal dystonic choreoathetosis linked to chromosome 2q

Familial paroxysmal dystonic choreoathetosis (PDC) is an autosomal dominant neurological disorder characterized by episodes of involuntary movement pr ecipitated by caffeine, alcohol, or emotional stress. The locus for PDC has recently been mapped to chromosome 2q32-36, but its causative gene has not yet been identified, PDC is most likely a kind of channelopathy, as sugges ted by the fact that other paroxysmal neurological disorders are caused by various ion channel mutations, Although no ion channel is located in this c andidate region, anion exchanger 3 (AE3) has been mapped to 2q36 and has al so been reported to be the most promising candidate gene of PDC. In this st udy we performed sequencing of the coding region of the AE3 gene in patient s with familial PDC linked to chromosome 2q and excluded the AE3 gene as th e causative gene for PDC. Am. J, Med. Genet. (Neuropsychiatr, Genet.) 88:73 3-737, 1999. (C) 1999 Wiley-Liss, Inc.