title: A genome-wide scan in an Amish pedigree with parkinsonism.
abstract: The identification of familial Parkinson Disease (PD) genes is yielding important molecular pathogenetic insights. In an effort to identify additional PD genes, we studied an eight generation Amish pedigree with apparent autosomal dominant parkinsonism with incomplete penetrance. Phenotypic variability ranged from idiopathic PD to progressive supranuclear palsy (PSP), with the average age at onset 53 years (range of 39 to 74 years). We identified markers on chromosome 3 and 7 that were significant at a genome-wide level by parametric and nonparametric criteria, lod > 3 and non-parametric P-value < 0.10, respectively. We also identified markers on chromosomes 10 and 22 with lod > 3. These data suggest that parkinsonism in this pedigree is genetically complex, with contributions from several loci.
authors.affiliation: Section of Neurology, Dartmouth Medical School, Lebanon, New Hampshire, USA.
authors.forename: S L
authors.initials: SL
authors.lastname: Lee
authors.forename: D G
authors.initials: DG
authors.lastname: Murdock
authors.forename: J L
authors.initials: JL
authors.lastname: McCauley
authors.forename: Y
authors.initials: Y
authors.lastname: Bradford
authors.forename: A
authors.initials: A
authors.lastname: Crunk
authors.forename: L
authors.initials: L
authors.lastname: McFarland
authors.forename: L
authors.initials: L
authors.lastname: Jiang
authors.forename: T
authors.initials: T
authors.lastname: Wang
authors.forename: N
authors.initials: N
authors.lastname: Schnetz-Boutaud
authors.forename: J L
authors.initials: JL
authors.lastname: Haines
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics; D020734:Parkinsonian Disorders / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D010641:Phenotype; D013494:Supranuclear Palsy, Progressive / Q000235:genetics; D013714:Tennessee; D044767:Ubiquitin-Protein Ligases / Q000235:genetics
chemical_list: D005819:Genetic Markers; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein