NEWLY DISCOVERED FORM OF GENETIC PARKINSON'S DISEASE

19th July 2011 - New research

American Journal of Human Genetics [2011] 89 (1) : 162-167 (Vilariño-Güell C, et al) 
American Journal of Human Genetics [2011] 89 (1) : 168-175 (Zimprich A, et al)

A new form of genetic Parkinson's Disease called VPS35 has been discovered by two different lots of researchers. One of the studies concerned a Swiss family and other families who have late-onset Parkinson's Disease. The Swiss family has tremor-predominant L-dopa responsive Parkinsonism with an average of onset at 50 years old. The other study concerned an Austrian family with 16 affected individuals and others with an average of onset at 53 years old.
The VPS35 gene produces a protein called VPS35 (Vacuolar protein sorting-associated protein 35). The function of VPS35 is known, but it is not explained how this function not taking place causes Parkinson's Disease symptoms. Unlike other genetic causes of Parkinson's Disease, VPS35 appears to eventually cause Parkinson's Disease symptoms rather than make them more likely.

Although Parkinson's Disease uncommonly has a genetic cause or increased likelihood, the prevalence of genetic Parkinson's Disease is not known, and may be more than is assumed. This is because there are a variety of genetic causes of Parkinson's Disease, and most people are never tested for them. Therefore, there are many people with Parkinson's Disease who have unknowingly been inclined, but not inevitably, to develop Parkinson's Disease all their life.