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Single gene mutation muddying Parkinson's risk forecasts

PORTLAND, Ore. A peculiar form of a gene mutation known to increase a person's risk for Parkinson's disease is puzzling doctors about how to counsel patients who have the anomaly.

A study by researchers at the Oregon Health & Science University School of Medicine's Parkinson Center of Oregon, the University of Washington School of Medicine and the New York State Department of Health, Wadsworth Center, raises concerns about whether patients testing positive for a single mutation of the parkin gene, rather than the two mutations typically required for developing Parkinson's, can be accurately informed about their risks of developing the disease or passing it on to their children.

The study represents "a call for getting more information about the gene," said John "Jay" G. Nutt, M.D., OHSU professor of neurology, and physiology and pharmacology, and Parkinson center director. "What are the clinical implications of finding this gene?"

What's alarmed doctors is that in the clinical setting, the single mutation appears to be common: 18 percent of patients with early-onset Parkinson's disease those diagnosed before age 40 tested positive for parkin gene mutations, and of that group, 70 percent had only one mutation.

"It was formerly thought that two mutations caused the disease, that it was recessive, that you had to get one copy of the gene from each parent" to develop the disease, said Nutt, also director of the Parkinson's Disease Research, Education, and Clinical Center (PADRECC) at the Portland Veterans Affairs Medical Center.

These latest findings, however, have baffled Parkinson's disease scientists.

"This raises all sorts of red flags for testing for parkin. How are you going to use this information? How are you going to counsel patients? What does this really mean?" Nutt said.

Whatever the cause, Nutt believes counseling single-mutation patients about their risks of developing Parkinson's disease will be d
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Contact: Jonathan Modie
modiej@ohsu.edu
503-494-8231
Oregon Health & Science University
3-Jun-2004


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