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Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study.


ABSTRACT: Mutations in the parkin gene are the most common genetic cause of early-onset Parkinson disease (PD). Results from a multicenter study of patients with PD systematically sampled by age at onset have not been reported to date.To determine risk factors associated with carrying parkin mutations.Cross-sectional observational study.Thirteen movement disorders centers.A total of 956 patients with early-onset PD, defined as age at onset younger than 51 years.Presence of heterozygous, homozygous, or compound heterozygous parkin mutations.Using a previously validated interview, 14.7% of patients reported a family history of PD in a first-degree relative. Sixty-four patients (6.7%) had parkin mutations (3.9% heterozygous, 0.6% homozygous, and 2.2% compound heterozygous). Copy number variation was present in 52.3% of mutation carriers (31.6% of heterozygous, 83.3% of homozygous, and 81.0% of compound heterozygous). Deletions in exons 3 and 4 and 255delA were common among Hispanics (specifically Puerto Ricans). Younger age at onset (<40 years) (odds ratio [OR], 5.0; 95% confidence interval [CI], 2.8-8.8; P = .001), Hispanic race/ethnicity (OR compared with white non-Hispanic race/ethnicity, 2.7; 95% CI, 1.3-5.7; P = .009), and family history of PD in a first-degree relative (OR compared with noncarriers, 2.8; 95% CI, 1.5-5.3; P = .002) were associated with carrying any parkin mutation (heterozygous, homozygous, or compound heterozygous). Hispanic race/ethnicity was associated with carrying a heterozygous mutation (OR compared with white non-Hispanic race/ethnicity, 2.8; 95% CI, 1.1-7.2; P = .03) after adjustment for covariates.Age at onset, Hispanic race/ethnicity, and family history of PD are associated with carrying any parkin mutation (heterozygous, homozygous, or compound heterozygous) and heterozygous mutations alone. The increased odds of carrying a parkin mutation among Hispanics warrants further study.

SUBMITTER: Marder KS 

PROVIDER: S-EPMC3329757 | biostudies-literature | 2010 Jun

REPOSITORIES: biostudies-literature

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Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study.

Marder Karen S KS   Tang Ming X MX   Mejia-Santana Helen H   Rosado Llency L   Louis Elan D ED   Comella Cynthia L CL   Colcher Amy A   Siderowf Andrew D AD   Jennings Danna D   Nance Martha A MA   Bressman Susan S   Scott William K WK   Tanner Caroline M CM   Mickel Susan F SF   Andrews Howard F HF   Waters Cheryl C   Fahn Stanley S   Ross Barbara M BM   Cote Lucien J LJ   Frucht Steven S   Ford Blair B   Alcalay Roy N RN   Rezak Michael M   Novak Kevin K   Friedman Joseph H JH   Pfeiffer Ronald F RF   Marsh Laura L   Hiner Brad B   Neils Gregory D GD   Verbitsky Miguel M   Kisselev Sergey S   Caccappolo Elise E   Ottman Ruth R   Clark Lorraine N LN  

Archives of neurology 20100601 6


<h4>Background</h4>Mutations in the parkin gene are the most common genetic cause of early-onset Parkinson disease (PD). Results from a multicenter study of patients with PD systematically sampled by age at onset have not been reported to date.<h4>Objective</h4>To determine risk factors associated with carrying parkin mutations.<h4>Design</h4>Cross-sectional observational study.<h4>Setting</h4>Thirteen movement disorders centers.<h4>Participants</h4>A total of 956 patients with early-onset PD, d  ...[more]

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