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Gene Mutations Associated With Parkinson’s Disease

Last Updated: October 21, 2009.

Mutations in the glucocerebrosidase gene are associated with Parkinson's disease, and mutations are associated with earlier disease onset and atypical clinical symptoms, according to a study in the Oct. 22 New England Journal of Medicine.

WEDNESDAY, Oct. 21 (HealthDay News) -- Mutations in the glucocerebrosidase (GBA) gene are associated with Parkinson's disease, and mutations are associated with earlier disease onset and atypical clinical symptoms, according to a study in the Oct. 22 New England Journal of Medicine.

Noting that patients with Parkinson's disease have been found to have mutations in the GBA gene, Ellen Sidransky, M.D., from the National Human Genome Research Institute in Bethesda, Md., and colleagues determined the frequency of GBA mutations among 5,691 ethnically diverse patients with Parkinson's disease (780 Ashkenazi Jews) and 4,898 controls (387 Ashkenazi Jews).

The researchers identified two frequent GBA mutations, L444P and N370S. The frequency of either mutation was significantly higher in patients with Parkinson's disease (3 versus less than 1 percent of controls for non-Ashkenazi Jews, 15 versus 3 percent for Ashkenazi Jews). However, fully sequencing GBA in 1,883 non-Ashkenazi Jews identified mutations in 7 percent of patients. Parkinson's patients were more likely to have a GBA mutation (odds ratio 5.43), and those with mutations had earlier onset disease, were more likely to have a family history of the disease, and were more likely to have atypical clinical symptoms.

"Although mutations in GBA are most likely a susceptibility factor rather than a mendelian cause of Parkinson's disease, the high frequency of mutations among ethnically diverse, heterogeneous cohorts of patients with Parkinson's disease makes the mutations in this gene the most common genetic risk factor for Parkinson's disease that have been identified to date," Sidransky and colleagues conclude.

Several authors reported financial and consulting relationships with pharmaceutical companies.

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