title: Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients.
abstract: Data on the frequency of alpha-synuclein mutations in Parkinson's disease (PD) are limited. Screening the entire coding region in 1,921 PD patients with denaturing high performance liquid chromatography and subsequent sequencing we only detected silent mutations (g.2654A>G, g.10151G>A, and g.15986A>T) and the c.209G>A substitution corresponding to the p.A53T mutation. These results demonstrate that mutations in the alpha-synuclein gene are rare and suggest that other factors contribute to alpha-synuclein aggregation in the majority of PD patients.
authors.affiliation: Institute for Medical Genetics, University of Tübingen, Germany.
authors.forename: Daniela
authors.initials: D
authors.lastname: Berg
authors.forename: Marc
authors.initials: M
authors.lastname: Niwar
authors.forename: Sylvia
authors.initials: S
authors.lastname: Maass
authors.forename: Alexander
authors.initials: A
authors.lastname: Zimprich
authors.forename: J Carsten
authors.initials: JC
authors.lastname: Möller
authors.forename: Ullrich
authors.initials: U
authors.lastname: Wuellner
authors.forename: Tanja
authors.initials: T
authors.lastname: Schmitz-Hübsch
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
authors.forename: Eng-King
authors.initials: EK
authors.lastname: Tan
authors.forename: Ludger
authors.initials: L
authors.lastname: Schöls
authors.forename: Laura
authors.initials: L
authors.lastname: Marsh
authors.forename: Ted M
authors.initials: TM
authors.lastname: Dawson
authors.forename: Bernd
authors.initials: B
authors.lastname: Janetzky
authors.forename: Thomas
authors.initials: T
authors.lastname: Müller
authors.forename: Dirk
authors.initials: D
authors.lastname: Woitalla
authors.forename: Vladimir
authors.initials: V
authors.lastname: Kostic
authors.forename: Peter P
authors.initials: PP
authors.lastname: Pramstaller
authors.forename: Wolfgang H
authors.initials: WH
authors.lastname: Oertel
authors.forename: Peter
authors.initials: P
authors.lastname: Bauer
authors.forename: Rejko
authors.initials: R
authors.lastname: Krueger
authors.forename: Thomas
authors.initials: T
authors.lastname: Gasser
authors.forename: Olaf
authors.initials: O
authors.lastname: Riess
mesh_terms: D000368:Aged; D002851:Chromatography, High Pressure Liquid; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D010300:Parkinson Disease / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D051844:alpha-Synuclein / Q000235:genetics*
chemical_list: D017931:DNA Primers; D051844:alpha-Synuclein