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Genetic Testing for Parkinson's Disease

By June 11, 2009

If you have Parkinson's disease you may ask how you got it and whether your children or grandchildren might get it as well. Although the most common forms of PD are NOT inheritable, they nevertheless may be influenced by certain genetic mutations. Thus scientists have begun a search for genetic markers of PD. They think that there might be forms of genetic mutations that when present may reliably predict that the individual in question will have increased risk for getting PD later in life. Obviously if scientists could do this-use a genetic test to identify individuals risk for PD—it would be a tremendous advance in the effort to prevent PD from occurring in the first place. The earlier you can identify at risk individual the sooner you can implement therapies or practices that might slow down disease onset. Several genetic mutations have been investigated as potential markers for PD. Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene, appear to be diagnostic in those who already have PD, but lots of other people possess this mutation and yet they do not develop PD. Thus the mutation is not specific to PD. Mutations in the galactocerebrosidase gene found in Gaucher disease are also associated with a high risk of PD, particularly in Ashkenazi Jewish patients, and could be used for screening for PD in this population. Perhaps the most promising approaches are studies that target multigene markers that may be associated with an increased susceptibility for developing PD but these studies are still in their infancy and no definite have yet emerged. If you or your loved ones participate in genetic testing for PD make sure that an informed consent is presented to you, and that appropriate counseling and support services are available to you when you attempt to interpret the results.

Source: Olanow CW, Stern MB, Sethi K. The scientific and clinical basis for the treatment of Parkinson disease (2009). Neurology. 2009 May 26;72(21 Suppl 4):S1-136.

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