title: Absence of mutations in the coding region of the alpha-synuclein gene in pathologically proven Parkinson's disease.
abstract: A missense mutation of the alpha-synuclein gene has been associated with parkinsonism in a large Italian kindred. Recently, alpha-synuclein was also identified in Lewy bodies. Using reverse transcribed-polymerase chain reaction (RT-PCR) technique, we sequenced the entire coding region of the alpha-synuclein gene using brain tissue from 24 pathologically proven Parkinson's disease cases. No mutations were found in any of the patients, suggesting that a mutation at the coding region of the alpha-synuclein gene is unlikely to be responsible for nigrostriatal degeneration in typical sporadic Parkinson's disease.
authors.affiliation: Parkinson's Institute, Sunnyvale, CA 94089, USA.
authors.forename: P
authors.initials: P
authors.lastname: Chan
authors.forename: X
authors.initials: X
authors.lastname: Jiang
authors.forename: L S
authors.initials: LS
authors.lastname: Forno
authors.forename: D A
authors.initials: DA
authors.lastname: Di Monte
authors.forename: C M
authors.initials: CM
authors.lastname: Tanner
authors.forename: J W
authors.initials: JW
authors.lastname: Langston
mesh_terms: D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D018076:DNA, Complementary; D005260:Female; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D051843:Synucleins; D051844:alpha-Synuclein
chemical_list: D018076:DNA, Complementary; D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein