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Study Draws Tie Between Gaucher Disease and Parkinson’s

October 23, 2009

An international team led by a National Institutes of Health researcher has found that carriers of a rare, genetic condition called Gaucher disease face a risk of developing Parkinson’s disease more than five times greater than the general public. The findings were just published in the New England Journal of Medicine. Researchers from the NIH’s National Human Genome Research Institute (NHGRI) and the National Institute on Aging (NIA), in collaboration with scientists from 16 research centers across four continents, say their work conclusively shows that mutations in the gene responsible for Gaucher disease are among the most significant risk factors found to date for Parkinson’s disease. "This analysis illustrates how studying a rare but important disorder, like Gaucher disease, can provide powerful clues about more common disorders, such as Parkinson’s disease," said NHGRI Scientific Director Eric Green, MD, PhD. "Understanding the genetic basis of rare conditions can thus provide insights into normal cellular and biological processes, which in turn may lead to improved diagnostic and therapeutic strategies." Parkinson’s disease, a neurological condition that typically causes tremors and stiffness in movement, affects about 1 to 2 percent of people over the age of 60. The chance of developing Parkinson’s disease increases with age and involves a combination of environmental risk factors and genetic susceptibility. Further research is in progress to understand the full spectrum of the gene alterations, their biological significance and their association with both Parkinson’s and Gaucher disease. The researchers are also pursuing ways to provide more accurate guidance based on the findings for genetic counseling and for the development of new therapeutic strategies for these disorders.