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Friday, August 29, 2014
Genetic testing for Parkinson`s Disease
Are there routine genetic tests for Parkinson`s Disease or are these still in study phases?
The genetics of PD are still largely unclear. There have been several families or "kindreds" in which PD-like diseases have clustered and from these several gene locations have been identified in association with these particular families and presentations. Currently, however, there is no gene or gene location identified associated with the most common typical, later onset form of PD. With the knowledge gained from identification of these familial clusters of PD-like diseases (such as the Juvenile form or Early onset form), we hopefully are moving steadily closer to understanding of the genetics of the more common form.
At this time, the only commercially available genetic test for one of the hereditary forms of Parkinsonism is for the Parkin gene. This mutation causes autosomal recessive (can skip generations), juvenile onset (adolescence or early adulthood) PD. This disease does not have the same pathological findings (cellular findings at autopsy) that are seen in typical PD, though the symptoms and response to treatment are similar. Because this test is very expensive and the mutation is not passed to every generation, it is not routinely recommended - especially considering treatment is similar in all forms of PD and there is no treatment that stops the disease progress. All other genetic investigations are in the research arena.
Karen M Thomas, DO
College of Medicine
The Ohio State University