The G209A mutation in the alpha-synuclein gene in Brazilian families with Parkinson's disease.
A missense G209A mutation of the alpha-synuclein gene was recently described in a large Contursi kindred with Parkinson's disease (PD). The objective of this study is to determine if the mutation G209A of the alpha-synuclein gene was present in 10 Brazilian families with PD. PD patients were recruited from movement disorders clinics of Brazil. A family history with two or more affected in relatives was the inclusion criterion for this study. The alpha-synuclein G209A mutation assay was made using polymerase chain reaction and the restriction enzyme Tsp45I. Ten patients from 10 unrelated families were studied. The mean age of PD onset was 42.7 years old. We did not find the G209A mutation in our 10 families with PD. Our results suggest that alpha-synuclein mutation G209A is uncommon in Brazilian PD families.
Teive
H A
HA
Movement Disorders Unit, Neurological Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brasil. hagteive@mps.com.br
Raskin
S
S
Iwamoto
F M
FM
Germiniani
F M
FM
Baran
M H
MH
Werneck
L C
LC
Allan
N
N
Quagliato
E
E
Leroy
E
E
Ide
S E
SE
Polymeropoulos
M H
MH
D000328:Adult; D017668:Age of Onset; D000368:Aged; D001938:Brazil; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D051843:Synucleins; D051844:alpha-Synuclein
D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein