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Arch Neurol. 2008 Apr;65(4):467-74. doi: 10.1001/archneur.65.4.467.

Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method.

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  • 1Department of Biostatistics, Mailman School of Public Health, New York, New York, USA.

Abstract

OBJECTIVE:

To estimate the risk of Parkinson disease (PD) in individuals with mutations in the Parkin gene.

DESIGN:

We assessed point mutations and exon deletions and duplications in the Parkin gene in 247 probands with PD (age at onset < or =50 years) and 104 control probands enrolled in the Genetic Epidemiology of Parkinson's Disease (GEPD) study. For each first-degree relative, a consensus diagnosis of PD was established. The probability that each relative carried a mutation was estimated from the proband's Parkin carrier status using Mendelian principles and from the relationship of the relative to the proband.

SETTING:

Tertiary care movement disorders center. Patients Cases, controls, and their first-degree relatives were enrolled in the GEPD study.

MAIN OUTCOME MEASURES:

Estimated age-specific penetrance in first-degree relatives.

RESULTS:

Parkin mutations were identified in 25 probands with PD (10.1%), 18 (72.0%) of whom were heterozygotes. One Parkin homozygote was reported in 2 siblings with PD. The cumulative incidence of PD to age 65 years in carrier relatives (age-specific penetrance) was estimated to be 7.0% (95% confidence interval, 0.4%-71.9%), compared with 1.7% (95% confidence interval, 0.8%-3.4%) in noncarrier relatives of the cases (P = .59) and 1.1% (95% confidence interval, 0.3%-3.4%) in relatives of the controls (compared with noncarrier relatives, P = .52).

CONCLUSIONS:

The cumulative risk of PD to age 65 years in a noncarrier relative of a case with an age at onset of 50 years or younger is not significantly greater than the general population risk among controls. Age-specific penetrance among Parkin carriers, in particular heterozygotes, deserves further study.

Comment in

PMID:
18413468
[PubMed - indexed for MEDLINE]
PMCID:
PMC2836931
Free PMC Article
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