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.
University Department of Clinical Neurology, Institute of Neurology, London, UK.
J
J
Vaughan
A
A
Durr
J
J
Tassin
B
B
Bereznai
T
T
Gasser
V
V
Bonifati
G
G
De Michele
E
E
Fabrizio
G
G
Volpe
O
O
Bandmann
W G
WG
Johnson
L I
LI
Golbe
M
M
Breteler
G
G
Meco
Y
Y
Agid
A
A
Brice
C D
CD
Marsden
N W
NW
Wood
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