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Genetic Mutation Plays Part in Some Parkinson's Cases

WEDNESDAY, Jan. 25 (HealthDay News) -- A specific mutation on the LRRK2 gene is a major cause of Parkinson''s disease among Ashkenazi (Eastern European) Jews, according to an Albert Einstein College of Medicine study.

The finding appears in the Jan. 26 issue of the New England Journal of Medicine.

"Like the discovery of the BRCA1 and BRCA2 gene mutations for breast cancer, this finding will directly affect the way Parkinson''s disease is diagnosed in Ashkenazi Jews," study senior investigator Dr. Susan B. Bressman, a professor and chairwoman of neurology at Einstein, said in a prepared statement.

"It also emphasizes the benefit of focusing genetic studies in a specific ethnic group, even with regard to a disease not thought to be primarily genetic in origin," Bressman said.

"Up until now, genetic counseling for Parkinson''s disease hasn''t really been considered," noted study co-author Dr. Laurie J. Ozelius, an associate professor of molecular genetics. "Our finding could bring genetic counseling for Parkinson''s disease to the forefront, along with genetic testing for early detection of Parkinson''s disease."

The study included 120 unrelated Ashkenazi Jews with Parkinson''s disease and a control group of 317 Ashkenazi Jews who did not have the disease. A mutation called G2019S -- the most common of several possible LRRK2 mutations -- was detected in 18.3 percent of the Parkinson''s patients, compared with 1.3 percent of those without the disease.

The mutation''s role was even more dramatic among the 37 patients with a family history of Parkinson''s disease. It was found in 29.7 percent of these patients.

Overall, the frequency of this mutation in the Ashkenazi Parkinson''s patients was 15 to 20 times higher than has been reported among Parkinson''s patients of European ancestry in general, the study said.

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SOURCE: Albert Einstein College of Medicine, news release, Jan. 25, 2006

Last Updated: Jan. 26, 2006

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