title: No pathogenic mutations in the beta-synuclein gene in Parkinson's disease.
abstract: 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.
authors.affiliation: Mayo Clinic Jacksonville, FL 32224, USA. lincoln.sarah@mayo.edu
authors.forename: S
authors.initials: S
authors.lastname: Lincoln
authors.forename: R
authors.initials: R
authors.lastname: Crook
authors.forename: M C
authors.initials: MC
authors.lastname: Chartier-Harlin
authors.forename: K
authors.initials: K
authors.lastname: Gwinn-Hardy
authors.forename: M
authors.initials: M
authors.lastname: Baker
authors.forename: V
authors.initials: V
authors.lastname: Mouroux
authors.forename: F
authors.initials: F
authors.lastname: Richard
authors.forename: E
authors.initials: E
authors.lastname: Becquet
authors.forename: P
authors.initials: P
authors.lastname: Amouyel
authors.forename: A
authors.initials: A
authors.lastname: Destée
authors.forename: J
authors.initials: J
authors.lastname: Hardy
authors.forename: M
authors.initials: M
authors.lastname: Farrer
mesh_terms: 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
chemical_list: D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; C497607:SNCB protein, human; D051843:Synucleins; D051844:alpha-Synuclein; D051846:beta-Synuclein