Sequencing of the alpha-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations. The European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD)

A mutation in exon 4 of the human alpha-synuclein gene was reportedrecently in four families with autosomal dominant Parkinson's disease (PD).In order to examine whether mutations in this exon or elsewhere in the geneare common in familial PD, all seven exons of the alpha- synuclein genewere amplified by PCR from index cases of 30 European and AmericanCaucasian kindreds affected with autosomal dominant PD. Each product wassequenced directly and examined for mutations in the open reading frame. Nomutations were found in any of the samples examined. We conclude that theA53T change described in the alpha- synuclein gene is a rare cause of PD ormay even be a rare variant. Mutations in the regulatory or intronic regionsof the gene were not excluded by this study.