Format

Send to

Choose Destination
See comment in PubMed Commons below
Mov Disord. 2003 Nov;18(11):1306-11.

Parkin variants in North American Parkinson's disease: cases and controls.

Author information

1
Department of Neuroscience, Mayo Clinic Jacksonville, Florida 32224, USA.

Abstract

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.

PMID:
14639672
DOI:
10.1002/mds.10601
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Wiley
    Loading ...
    Support Center