title: Mutation in the alpha-synuclein gene and sporadic Parkinson's disease, Alzheimer's disease, and dementia with lewy bodies.
abstract: Recently, alpha-synuclein attracted attention when Polymeropoulos and colleagues identified a missense mutation of this gene (Science 276:2045-2047, 1997), which is responsible for a form of early-onset familial Parkinson's disease (PD). Immunohistochemically, alpha-synuclein is localized in Lewy bodies, characteristic brain pathology of PD, dementia with Lewy bodies (DLB), and Alzheimer's disease (AD), suggesting that this protein may link these common neurological diseases. Exploration of the possibility that the same mutation of the alpha-synuclein gene as that in familial PD (Ala53Thr) may also confer susceptibility to sporadic PD, DLB, and AD revealed the mutation in none of the samples of 329 cases and 230 controls examined, suggesting that this mutation is not involved in these neurological diseases.
authors.affiliation: National Institute on Alcoholism, Kurihama National Hospital, Yokosuka, Kanagawa, 239, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Higuchi
authors.forename: H
authors.initials: H
authors.lastname: Arai
authors.forename: S
authors.initials: S
authors.lastname: Matsushita
authors.forename: T
authors.initials: T
authors.lastname: Matsui
authors.forename: T
authors.initials: T
authors.lastname: Kimpara
authors.forename: A
authors.initials: A
authors.lastname: Takeda
authors.forename: K
authors.initials: K
authors.lastname: Shirakura
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics* / Q000378:metabolism*; D004247:DNA / Q000096:biosynthesis / Q000235:genetics; D003704:Dementia / Q000235:genetics* / Q000378:metabolism*; D005838:Genotype; D006801:Humans; D016631:Lewy Bodies / Q000235:genetics* / Q000378:metabolism*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics* / Q000378:metabolism*; D010750:Phosphoproteins / Q000235:genetics*; D051843:Synucleins; D051844:alpha-Synuclein
chemical_list: D009419:Nerve Tissue Proteins; D010750:Phosphoproteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein; D004247:DNA