Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients.
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.
Berg
Daniela
D
Institute for Medical Genetics, University of Tübingen, Germany.
Niwar
Marc
M
Maass
Sylvia
S
Zimprich
Alexander
A
Möller
J Carsten
JC
Wuellner
Ullrich
U
Schmitz-Hübsch
Tanja
T
Klein
Christine
C
Tan
Eng-King
EK
Schöls
Ludger
L
Marsh
Laura
L
Dawson
Ted M
TM
Janetzky
Bernd
B
Müller
Thomas
T
Woitalla
Dirk
D
Kostic
Vladimir
V
Pramstaller
Peter P
PP
Oertel
Wolfgang H
WH
Bauer
Peter
P
Krueger
Rejko
R
Gasser
Thomas
T
Riess
Olaf
O
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*
D017931:DNA Primers; D051844:alpha-Synuclein