A genome-wide scan in an Amish pedigree with Parkinsonism

S. L. Lee, D. G. Murdock, J. L. Mccauley, Y. Bradford, A. Crunk, L. Mcfarland, L. Jiang, T. Wang, N. Schnetz-Boutaud, Jonathan L. Haines

Research output: Contribution to journalArticle

9 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)621-629
Number of pages9
JournalAnnals of Human Genetics
Volume72
Issue number5
DOIs
StatePublished - 2008
Externally publishedYes

Keywords

  • Amish
  • Genetic linkage
  • Parkinson's disease
  • Parkinsonism
  • Population isolate
  • Progressive supranuclear palsy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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  • Cite this

    Lee, S. L., Murdock, D. G., Mccauley, J. L., Bradford, Y., Crunk, A., Mcfarland, L., Jiang, L., Wang, T., Schnetz-Boutaud, N., & Haines, J. L. (2008). A genome-wide scan in an Amish pedigree with Parkinsonism. Annals of Human Genetics, 72(5), 621-629. https://doi.org/10.1111/j.1469-1809.2008.00452.x