A deeper look at a new diagnosis test
A skin biopsy could potentially transform the way doctors diagnose Parkinson’s disease and lead to earlier diagnosis, even before symptoms appear.
Parkinson’s disease affects almost 1 million people in the United States and is the second-most common neurodegenerative disease after Alzheimer’s disease. The disease occurs when dopamine-producing neurons in the brain malfunction and reduce the amount of dopamine in your brain. This reduction in dopamine can lead to many movement-related symptoms of Parkinson’s, including tremor, stiffness (rigidity), shuffling gait and general slowness of movement (bradykinesia).
Parkinson’s disease is a clinical diagnosis, which means it's based on patient history and physical examination as Parkinson’s does not show up on routine lab testing or brain MRI. So, when it comes to the future of Parkinson’s care – the goal is to find ways to accurately diagnosis using biomarkers. In some cases, biomarkers can even identify patients who are at risk of developing diseases even before they develop symptoms. A new skin biopsy might be the first step in this direction for the medical community.
About the skin biopsy study
Parkinson’s disease, along with two other neurodegenerative conditions, is referred to as a "synucleinopathy”. Synucleinopathies are characterized by the presence of abnormally phosphorylated Alpha-synuclein (P-SYN) proteins in the membranes of nerve cells. When the protein is abnormally phosphorylated, it causes the protein and the nerve cells to malfunction. This, on a cellular level, is what causes Parkinson’s.
Recent studies show that this P-SYN protein can be detected in the nerve fibers under the skin when a small skin biopsy is collected from three locations (the shoulder blade, thigh and ankle regions). One study published in the Journal of the American Medical Association (JAMA) dug deeper into the link between the presence of P-SYN proteins found via the skin biopsies and Parkinson’s.
The JAMA study analyzed skin biopsies from 428 participants, including 277 individuals previously diagnosed with Parkinson's disease or another synucleinopathy. Researchers specifically looked for the presence of the P-SYN protein in the collected samples.
Researchers found that the biopsies taken from the participants with Parkinson’s came back positive for P-SYN 92.7% of the time, while the participants who did not have a neurodegenerative disease only came back positive 3.3% of the time. This indicates a correlation between the presence of P-SYN and having Parkinson’s disease.
What this means for diagnosing Parkinson’s disease
The P-SYN skin biopsy could potentially transform the way doctors diagnose Parkinson’s disease and lead to earlier diagnosis, even before symptoms appear. Identifying patients who are at risk of developing Parkinson’s, could be invaluable as scientists continue to work towards a treatment that slows down or cures the disease. Furthermore, the P-SYN skin biopsy could improve the diagnostic accuracy of Parkinson’s disease.
However, more research is needed to determine if P-SYN is always an indicator of future neurodegenerative diseases, when during the progression of the disease P-SYN can be found, and how this skin biopsy can fit into clinical care.
Parkinson’s skin biopsy test available at MercyOne Ruan Neurology
At MercyOne Ruan Neurology, we strive to keep up with recent trends in the diagnosis and treatment of neurological conditions. Since 2023, we have been one of the only clinics in Iowa to perform skin biopsies to further help in the diagnosis of Parkinson's disease. Learn more about neurology care at MercyOne.
