title: Absence of G209A and G88C mutations in the alpha-synuclein gene of Parkinson's disease in a Chinese population.
abstract: A G209A mutation in the alpha-synuclein gene was recently discovered in a large Italian kindred and three unrelated Greek kindreds with autosomal dominant Parkinson's disease (PD). Subsequently, another mutation in the gene (G88C) was also identified in a German family with autosomal PD. These results indicate that the alpha-synuclein gene may have an important role in the pathogenesis of PD. This study was designed to screen the existence of both mutations of the alpha-synuclein gene among 100 Chinese patients with PD, including 80 with sporadic and 20 with familial PD. Results showed that none of our patients, both sporadic and familial PD, had either of the two mutations of this gene. We therefore conclude that although of great interest, these two mutations are not relevant for the pathogenesis of PD in a Han Chinese population.
authors.affiliation: Department of Neurology, Parkinson's Disease and Movement Disorders Clinic, Chushang Show-Chwan Hospital, Nantou, Taiwan, ROC. jjlinn@tcts.seed.net.tw
authors.forename: J J
authors.initials: JJ
authors.lastname: Lin
authors.forename: K C
authors.initials: KC
authors.lastname: Yueh
authors.forename: D C
authors.initials: DC
authors.lastname: Chang
authors.forename: S Z
authors.initials: SZ
authors.lastname: Lin
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics*; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000208:ethnology / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics*; D017354:Point Mutation; D012494:Sampling Studies; D051843:Synucleins; D051844:alpha-Synuclein
chemical_list: D009419:Nerve Tissue Proteins; D010750:Phosphoproteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein