title: Analysis of alpha-synuclein, parkin, tau, and UCH-L1 in a Japanese family with autosomal dominant parkinsonism.
abstract: We examined whether autosomal dominant parkinsonism of a Japanese family, Sagamihara family, was due to the mutations of alpha-synuclein, parkin, tau, and UCH-L1, which have been reported as the causal genes for parkinsonism in other families. Restriction-enzyme digestion of polymerase-chain reaction (PCR) amplified genomic DNA fragments of alpha-synuclein exons 3 and 4 detected no point mutation. PCR-amplification of parkin exons 3, 4, 5, 6 and 7 detected no exon deletion. Direct sequencing of PCR-amplified DNA fragments of tau exons 9, 10, 12, and 13 and intron 10, and of UCH-L1 exon 4 revealed that all these exons and intron were normal including a polymorphic nucleotide substitution. These results indicated that the parkinsonism of the Sagamihara family seems not to be due to previously identified point mutations of alpha-synuclein, tau, or UCH-L1, or to exon deletion of parkin.
authors.affiliation: Department of Internal Medicine, Kitasato University School of Medicine, 1-15-1 Kitasato, Sagamihara, Kanagawa 228-8555, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Hasegawa
authors.forename: M
authors.initials: M
authors.lastname: Funayama
authors.forename: N
authors.initials: N
authors.lastname: Matsuura
authors.forename: H
authors.initials: H
authors.lastname: Furusawa
authors.forename: F
authors.initials: F
authors.lastname: Sakai
authors.forename: H
authors.initials: H
authors.lastname: Kowa
authors.forename: F
authors.initials: F
authors.lastname: Obata
mesh_terms: D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007564:Japan; D008025:Ligases / Q000097:blood* / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000097:blood* / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000097:blood* / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D051843:Synucleins; D013869:Thiolester Hydrolases / Q000097:blood* / Q000235:genetics*; D043222:Ubiquitin Thiolesterase; D044767:Ubiquitin-Protein Ligases; D051844:alpha-Synuclein; D016875:tau Proteins / Q000097:blood* / Q000235:genetics*
chemical_list: D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein; D016875:tau Proteins; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D013869:Thiolester Hydrolases; D043222:Ubiquitin Thiolesterase; D008025:Ligases