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Mutations Linked to Higher Parkinson's Disease Risk

Relatives of Parkinson's patients carrying mutations in Parkin gene at higher risk

MONDAY, April 14 (HealthDay News) -- Relatives of early-onset Parkinson's disease patients who carry a mutation in the Parkin gene have a significantly higher risk of developing the disease before 65 years of age, according to study findings published in the April issue of the Archives of Neurology.

Yuanjia Wang, Ph.D., from Mailman School of Public Health in New York City, and colleagues estimated the risk of Parkinson's disease associated with mutations in the Parkin gene in 247 probands with Parkinson's disease (age of onset 50 years and younger) and 104 control probands.

The researchers found that 10.1 percent of probands with Parkinson's disease had Parkin mutations, of which 72 percent were heterozygotes. The estimated cumulative incidence of Parkinson's disease at 65 years of age was 7 percent in carrier relatives of Parkinson's cases, 1.7 percent in non-carrier relatives of Parkinson's cases and 1.1 percent in relatives of the controls.

"Given the variable penetrance of Parkin mutation(s) and, if manifest, different expressivity of the disease even in carriers of an identical mutation belonging to the same family, no predictions on course and severity of the disease should be made in an individual patient or family," Christine Klein, M.D., and Andreas Ziegler, Ph.D., from the University of Lubeck in Lubeck, Germany, write in an accompanying editorial.

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