title: 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).
abstract: 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.
authors.affiliation: University Department of Clinical Neurology, Institute of Neurology, Queen Square, London WC1N 3BG, UK.
authors.forename: J R
authors.initials: JR
authors.lastname: Vaughan
authors.forename: M J
authors.initials: MJ
authors.lastname: Farrer
authors.forename: Z K
authors.initials: ZK
authors.lastname: Wszolek
authors.forename: T
authors.initials: T
authors.lastname: Gasser
authors.forename: A
authors.initials: A
authors.lastname: Durr
authors.forename: Y
authors.initials: Y
authors.lastname: Agid
authors.forename: V
authors.initials: V
authors.lastname: Bonifati
authors.forename: G
authors.initials: G
authors.lastname: DeMichele
authors.forename: G
authors.initials: G
authors.lastname: Volpe
authors.forename: S
authors.initials: S
authors.lastname: Lincoln
authors.forename: M
authors.initials: M
authors.lastname: Breteler
authors.forename: G
authors.initials: G
authors.lastname: Meco
authors.forename: A
authors.initials: A
authors.lastname: Brice
authors.forename: C D
authors.initials: CD
authors.lastname: Marsden
authors.forename: J
authors.initials: J
authors.lastname: Hardy
authors.forename: N W
authors.initials: NW
authors.lastname: Wood
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000818:Animals; D002522:Chlorocebus aethiops / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D051381:Rats; D017421:Sequence Analysis; D051843:Synucleins; D051844:alpha-Synuclein
chemical_list: D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; C497606:Snca protein, rat; D051843:Synucleins; D051844:alpha-Synuclein