title: Search for the PARK3 founder haplotype in a large cohort of patients with Parkinson's disease from northern Germany.
abstract: A founder haplotype on chromosome 2p for autosomal dominant Parkinson's disease (PD) has been postulated for two families of Northern European descent, and a new mutation in the alpha-synuclein gene (Ala30Pro) has been found in a German PD family. We evaluated 85 German PD patients and 85 ethnically matched controls for shared markers on chromosome 2p and for the new alpha-synuclein mutation. We found no evidence for linkage disequilibrium, suggesting that the putative founder mutation on chromosome 2p is not a common cause of PD in the local population. Furthermore, no patient carried the Ala30Pro change, supporting earlier findings that mutations in the alpha-synuclein gene are extremely rare.
authors.affiliation: Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston, USA.
authors.forename: C
authors.initials: C
authors.lastname: Klein
authors.forename: P
authors.initials: P
authors.lastname: Vieregge
authors.forename: J
authors.initials: J
authors.lastname: Hagenah
authors.forename: M
authors.initials: M
authors.lastname: Sieberer
authors.forename: E
authors.initials: E
authors.lastname: Doyle
authors.forename: H
authors.initials: H
authors.lastname: Jacobs
authors.forename: T
authors.initials: T
authors.lastname: Gasser
authors.forename: X O
authors.initials: XO
authors.lastname: Breakefield
authors.forename: N J
authors.initials: NJ
authors.lastname: Risch
authors.forename: L J
authors.initials: LJ
authors.lastname: Ozelius
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D016022:Case-Control Studies; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D015331:Cohort Studies; D005260:Female; D018703:Founder Effect; D005787:Gene Frequency; D005799:Genes, Dominant; D005858:Germany; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics; D010300:Parkinson Disease / Q000235:genetics*; D017354:Point Mutation; D051843:Synucleins; D051844:alpha-Synuclein
chemical_list: D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein