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Gene mutation may influence age at onset of Parkinson's disease

43 percent) had at least one member with two different mutations; three (13 percent) had at least one member with two copies of the same mutation; and 10 (43 percent) had at least one member with one mutated parkin gene and one normal parkin gene. Individuals with one mutated gene and one normal gene are known as heterozygotes; researchers had not previously determined whether heterozygotes were at increased risk for Parkinson's disease. Patients with parkin mutations developed Parkinson's disease at an average age of 42.9 years. Among the families who were selected because two siblings shared the same version of the parkin gene, heterozygotes developed Parkinson's disease an average of 11.7 years earlier than those with no mutations, and those with two or more mutations developed the condition 13.2 years earlier than heterozygotes.

"In conclusion, parkin mutations are not rare in this selected subset of familial Parkinson's disease samples (12.6 percent)," the authors write. "Single parkin mutations may increase susceptibility to the disease and decrease the onset age of Parkinson's disease (mean onset age, 49.6 years)." The fact that even heterozygotes developed Parkinson's disease at an earlier age than those with two normal copies indicates that the gene's effect may be stronger than previously recognized, and that screening for mutations in the gene may help identify those at risk of developing the condition.

(Arch Neurol. 2006;63:826-832. Available pre-embargo to the media at www.jamamedia.org.)

Editor's Note: This study was supported by the Bumpus Foundation and grants from the U.S. Public Health Service. The DNA samples contributed by the Parkinson Institute, Istituti Clinici di Perfezionamento, were from the Human Genetic Bank of Patients Affected by Parkinson Disease and Parkinsonisms, supported by a grant from the Italian Telethon Foundation.

Editorial: Genetic Studies Help Expl
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Contact: Sue McGreevey
617-724-2764
JAMA and Archives Journals
12-Jun-2006


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