No pathogenic mutations in the beta-synuclein gene in Parkinson's disease.
We present 11 families consistent with autosomal dominant inheritance of probable Parkinson's disease (PD). Although excluded as a cause of disease in these kindreds, mutations in the alpha-synuclein gene have been implicated in familial PD. The beta-synuclein gene is highly homologous, expressed in the nervous system and thus is a good candidate gene for PD. Multipoint linkage analysis was either equivocal or excluded 5q35 haplotype sharing among affected family members. Sequencing the translated exons of the beta-synuclein gene failed to identify any pathogenic mutation.
Lincoln
S
S
Mayo Clinic Jacksonville, FL 32224, USA. lincoln.sarah@mayo.edu
Crook
R
R
Chartier-Harlin
M C
MC
Gwinn-Hardy
K
K
Baker
M
M
Mouroux
V
V
Richard
F
F
Becquet
E
E
Amouyel
P
P
Destée
A
A
Hardy
J
J
Farrer
M
M
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002895:Chromosomes, Human, Pair 5; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D010375:Pedigree; D051843:Synucleins; D051844:alpha-Synuclein; D051846:beta-Synuclein
D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; C497607:SNCB protein, human; D051843:Synucleins; D051844:alpha-Synuclein; D051846:beta-Synuclein