Biological test detects Parkinson’s disease before symptoms present

Penn Medicine research shows this test can detect a build-up of abnormal protein deposits linked to Parkinson’s disease in cerebrospinal fluid.

A technique that identifies the build-up of abnormal protein deposits linked to Parkinson’s disease in cerebrospinal fluid can accurately detect patients with the disease, according to research published in The Lancet Neurology. In addition, the findings suggest that the test can identify at-risk people and those with early, non-motor symptoms prior to diagnosis, which could, in the future, support a framework for early detection and prevention of disabling motor symptoms, like tremors.

Closeup of a pipette and a tray of vials held by a gloved hand.
Image: Courtesy of Penn Medicine News

Researchers at Penn Medicine, along with the Parkinson’s Progression Markers Initiative (PPMI) and Michael J. Fox Foundation, confirmed that the technique—known as α-synuclein seed amplification assay (αSyn-SAA)—is highly accurate at identifying Parkinson’s disease patients, and classifying them based on genetic and clinical markers.

“This research is a step forward for understanding the different pathologies of Parkinson’s disease,” says corresponding author Andrew Siderowf, a professor of neurology in the Perelman School of Medicine and director of Penn’s Parkinson’s Disease and Movement Disorders Center. “The αSyn-SAA technique is a crucial tool to further our understanding of how Parkinson’s disease develops in patients with and without risk factors. Going forward, we will be able to use the test to connect patients with the most promising clinical trials based on their underlying biology. In the future, tests like αSyn-SAA could likely form the basis for personalized medicine for Parkinson’s disease.”

This technique amplifies very small amounts of misfolded aggregates of α-synuclein in samples from Parkinson’s patients to the point that they can be detected using standard laboratory methods. This approach builds on the groundbreaking discovery of synuclein protein deposits as a biological hallmark of Parkinson’s disease by researchers including Penn Medicine’s Virginia M.Y. Lee, the John H. Ware 3rd Professor in Alzheimer’s Research in Pathology and Laboratory Medicine, and the late John Q. Trojanowski, a former professor of geriatric medicine and gerontology.

Read more at Penn Medicine News.