Journal
MOVEMENT DISORDERS
Volume 18, Issue 11, Pages 1306-1311Publisher
WILEY
DOI: 10.1002/mds.10601
Keywords
parkin; north America; Parkinson's disease; V380L
Categories
Funding
- NIEHS NIH HHS [ES10751] Funding Source: Medline
- NINDS NIH HHS [NS33978] Funding Source: Medline
- NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES [R01ES010751] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [R01NS033978] Funding Source: NIH RePORTER
Ask authors/readers for more resources
We report on an evaluation of coding variants within the parkin gene to assess their frequency in a North American clinical series of 313 Parkinson's disease (PD) cases and 192 unrelated controls. We hypothesized that the carrier frequency of parkin coding mutations, exon deletions, or duplications may be greater in PD cases. However, point mutations and exonic deletions/duplications, reported previously as pathogenic in homozygous or compound heterozygous individuals, occurred in both cases and controls with similar frequencies (3.8% in cases, 3.1% in controls). Furthermore, only stratified subanalyses detected any genetic association between the V380L common coding polymorphism and PD. We discuss the implication of parkin mutations for Parkinson's disease from this population perspective. (C) 2003 Movement Disorder Society.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available