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Free Content A Genome-wide Scan in an Amish Pedigree with Parkinsonism

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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.
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Keywords: Amish; Parkinson's disease; genetic linkage; parkinsonism; population isolate; progressive supranuclear palsy

Document Type: Research Article

Affiliations: 1: Section of Neurology, Dartmouth Medical School, Lebanon, New Hampshire 2: The Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee

Publication date: September 1, 2008

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