There are new genetic clues on risk factors and biological causes of a rare neurodegenerative disease called progressive supranuclear palsy (PSP), according to a new study from an international genetics team led by researchers from the Perelman School of Medicine at the University of Pennsylvania. In the largest genetics study of the disease, three new genes associated with risk for PSP were identified and two additional genetic variants affecting risk for PSP were confirmed. The paper appears online in Nature Genetics.
This gives new insight into a disease that has intriguing contrasts and similarities to other neurodegenerative diseases, including Parkinson's disease, frontotemporal dementia (FTD) and Alzheimer's disease.
"PSP is a devastating disease with no available treatments. This work increases what we know not only about the genetics but also about the underlying cause of the disease," said Gerard Schellenberg, PhD, professor of Pathology and Laboratory Medicine in the Perelman School of Medicine at the University of Pennsylvania and the study's senior author. "We hope this work not only will benefit patients with PSP, but will also increase our understanding of related more common diseases, such as Alzheimer's disease."
Progressive supranuclear palsy (PSP), a form of frontotemporal dementia, affects around 3-6 people per 100,000 and, after Parkinson's disease, is the second most common cause of degenerative parkinsonism.