Simple Skin Biopsy Test Detects Parkinson’s and Related Neurodegenerative Diseases

Parkinson's disease and a group of related neurodegenerative disorders known as synucleinopathies impact millions globally. These conditions, including Parkinson’s disease (PD), dementia with Lewy bodies (DLB), multiple system atrophy (MSA), and pure autonomic failure (PAF), are progressive neurodegenerative diseases that, despite having some similar symptoms like tremors and cognitive issues, vary in their outcomes and do not benefit from identical treatments. A common feature among them is the accumulation of an abnormal protein in nerve fibers within the skin, known as phosphorylated α-synuclein (P-SYN). Now, neurologists have developed a simple skin biopsy test that can detect this abnormal form of alpha-synuclein with high positivity rates in individuals with such disorders.

In the study, neurologists at Beth Israel Deaconess Medical Center (BIDMC, Boston, MA, USA) enrolled 428 people, ages 40-99 years who were either diagnosed with one of the synucleinopathies based on clinical evaluations confirmed by specialists or were healthy volunteers without a history of neurodegenerative conditions. Each participant had skin biopsies taken from three sites: the neck, knee, and ankle. The findings revealed high detection rates of the P-SYN protein in patients with these conditions: 93% in those with PD, 96% in DLB, 98% in MSA, and 100% in PAF. Conversely, a small fraction (slightly over 3%) of the control group tested positive for P-SYN, suggesting the possibility of undiagnosed synucleinopathy risk among some healthy individuals. This study demonstrates the potential of skin biopsies as a valuable diagnostic tool for identifying the pathological hallmark of Parkinson’s and related disorders.

“Too often patients experience delays in diagnosis or are misdiagnosed due to the complexity of these diseases,” said lead author Christopher Gibbons, MD, a neurologist at BIDMC and professor of neurology at Harvard Medical School (HMS). “With a simple, minimally-invasive skin biopsy test, this blinded multicenter study demonstrated how we can more objectively identify the underlying pathology of synucleinopathies and offer better diagnostic answers and care for patients.”

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