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Human Molecular Genetics, Vol 7, 751-753, Copyright © 1998 by Oxford University Press

ARTICLES

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)

JR Vaughan, MJ Farrer, ZK Wszolek, T Gasser, A Durr, Y Agid, V Bonifati, G DeMichele, G Volpe, S Lincoln, M Breteler, G Meco, A Brice, CD Marsden, J Hardy and NW Wood
University Department of Clinical Neurology, Institute of Neurology, Queen Square, London WC1N 3BG, UK.

A mutation in exon 4 of the human alpha-synuclein gene was reported recently in four families with autosomal dominant Parkinson's disease (PD). 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- synuclein gene were amplified by PCR from index cases of 30 European and American Caucasian kindreds affected with autosomal dominant PD. Each product was sequenced directly and examined for mutations in the open reading 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.
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