SEQUENCING OF THE ALPHA-SYNUCLEIN GENE IN A LARGE SERIES OF CASES OF FAMILIAL PARKINSONS-DISEASE FAILS TO REVEAL ANY FURTHER MUTATIONS

A mutation in exon 4 of the human alpha-synuclein gene was reported re cently in four families with autosomal dominant Parkinson's disease (P D). In order to examine whether mutations in this exon or elsewhere in the gene are common in familial PD, all seven exons of the alpha-synu clein gene were amplified by PCR from index cases of 30 European and A merican Caucasian kindreds affected with autosomal dominant PD. Each p roduct was sequenced directly and examined for mutations in the open r eading frame. No mutations were found in any of the samples examined. We conclude that the A53T change described in the alpha-synuclein gene is a rare cause of PD or may even be a rare variant. Mutations in the regulatory or intronic regions of the gene were not excluded by this study.