The alpha-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: a study of 230 European cases. European Consortium on Genetic Susceptibility in Parkinson's Disease.
We report the results of a screen of 230 European familial index cases of Parkinson's disease for the recently described Ala53Thr mutation in the alpha-synuclein gene in an autosomal dominant Parkinson's disease kindred. No mutations were found from this broad white population, and we therefore conclude that although of great interest, this mutation is a very rare cause of familial Parkinson's disease.
Vaughan
J
J
University Department of Clinical Neurology, Institute of Neurology, London, UK.
Durr
A
A
Tassin
J
J
Bereznai
B
B
Gasser
T
T
Bonifati
V
V
De Michele
G
G
Fabrizio
E
E
Volpe
G
G
Bandmann
O
O
Johnson
W G
WG
Golbe
L I
LI
Breteler
M
M
Meco
G
G
Agid
Y
Y
Brice
A
A
Marsden
C D
CD
Wood
N W
NW
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004247:DNA / Q000032:analysis; D005060:Europe; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D051843:Synucleins; D044465:White People / Q000235:genetics*; D051844:alpha-Synuclein
D009419:Nerve Tissue Proteins; D010750:Phosphoproteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein; D004247:DNA