Gaucher (pronounced “go-shay”) disease affects 1 in 450 Jewish people of Ashkenazi (eastern European) descent (1 in 10 is a carrier), yet only 1 in 40,000 people in the general population. Of course mutations can happen in anyone, and many people are unaware of having Jewish ancestry. But this rare disease actually impacts a much more common one: being a carrier for Gaucher disease is a risk factor for Parkinson’s disease (PD)…
Two new studies published in the Annals of Neurology strengthen the link between the two conditions, and raise familiar issues about the value of genetic testing.
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Typically, a rare inherited disease is caused by mutation in a single gene, revealing the mechanism of the pathology. An associated common condition, such as PD, tends to reflect several risk genes as well as environmental influences. In terms of numbers…Gaucher affects 6,000 people in the US compared to Parkinson’s million.
…the link between the two diseases is a great opportunity to stratify Parkinson’s patients by GBA genotype, to test drug candidates to prevent, delay, or otherwise counter the cognitive decline. The MJFF has formed an international consortium of “GBA-PD” cases and controls to do just that.
The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post: Linking Gaucher and Parkinson’s Diseases
