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Gene Mutation Linked to Early Onset of Parkinson Disease

Glucocerebrosidase mutations especially prevalent in Jewish patients

MONDAY, Sept. 17 (HealthDay News) -- Mutations in the glucocerebrosidase (GBA) gene are associated with Parkinson disease, especially in Jewish patients, and those with early onset of the disease regardless of ethnicity, according to a report in the Sept. 18 issue of Neurology.

Lorraine N. Clark, Ph.D., of Columbia University in New York City, and colleagues sequenced the GBA gene in 278 patients with Parkinson disease and 179 controls. Of these, 178 patients and 85 controls were identified as having four Jewish grandparents.

Overall, 13.7 percent of Parkinson's patients carried GBA mutations compared with 4.5 percent of controls. Jewish patients with Parkinson's were more than twice as likely to carry GBA mutations as non-Jewish patients with Parkinson's (16.9 percent versus 8 percent). Among patients with a disease onset at age 50 or less, the frequency of GBA mutations was 22.2 percent compared to 9.7 percent in those whose onset occurred at 50 years or older (odds ratio 2.7).

"The identification of mutations in the GBA gene in Parkinson disease and dementia with Lewy bodies cases and the associated neuropathologic findings suggest that the GBA gene may be a susceptibility gene for synucleopathies," the authors conclude.

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