In a groundbreaking study from Harvard-affiliated Beth Israel Deaconess Medical Center, neurologists have revealed that a simple skin biopsy test can accurately detect an abnormal form of alpha-synuclein, a key biomarker for Parkinson’s disease and related neurodegenerative disorders. Known as synucleinopathies, these disorders include Parkinson’s disease, dementia with Lewy bodies (DLB), multiple system atrophy (MSA), and pure autonomic failure (PAF).
Lead author Christopher Gibbons and his team developed this cutaneous diagnostic method as a reliable, minimally invasive way to identify alpha-synuclein in the skin. This crucial protein is linked to the nerve fibers and is present in high concentrations in people affected by these diseases. The test demonstrated remarkable accuracy: 93% of participants with Parkinson’s disease tested positive for this biomarker, with even higher rates in DLB, MSA, and PAF patients.
Senior author Roy Freeman, director of the Center for Autonomic and Peripheral Nerve Disorders, emphasized the importance of this study: “These are systemic disorders that impact the peripheral and central nervous systems in profound ways. We were thrilled with the accuracy of this diagnostic test.”
A total of 428 participants aged 40 to 99, with clinical diagnoses confirmed by an expert panel, were tested across multiple neurology practices. With skin samples taken from the neck, knee, and ankle, the test distinguished the diseases from one another, helping differentiate between disorders with overlapping symptoms but varying prognoses.
This novel diagnostic tool can identify synucleinopathies early and aid in clinical trials for drug development. By tracking the biomarker over time, researchers can now better understand the disease progression and evaluate new treatments, offering renewed hope for more accurate diagnoses and improved care.
Read More: https://news.harvard.edu/gazette/story/2024/03/parkinsons-warning-in-skin-biopsy/
