JAMA

Can Parkinson's disease be detected by skin biopsy?

March 25, 2024

A new skin biopsy test was highly accurate in detecting a key protein involved in Parkinson's Disease (PD)—phosphorylated α-synuclein—in people who'd already been diagnosed by their symptoms with PD, according to a study published in JAMA. It also detected the protein at high rates in participants with similar disorders, including dementia with Lewy bodies.

Patients with symptoms of PD are often misdiagnosed. Finding a reliable diagnostic biomarker for the disorders collectively known as synucleinopathies is an urgent unmet need. A skin biopsy test based on biology—as opposed to symptoms that can take years to appear—can help doctors more quickly rule out diseases with similar symptoms that might be treated differently or have different prognoses.

Study takeaways:

• This blinded, 30-site, cross-sectional study of academic and community-based neurology practices was conducted from February 2021 through March 2023.
• Participants included patients ages 40 to 99 years with a clinical diagnosis of Parkinson's disease, dementia with Lewy bodies, multiple system atrophy, or pure autonomic failure and similarly aged controls with no history of examination findings or symptoms suggestive of a synucleinopathy or neurodegenerative disease.
• Participants underwent three 3-millimeter skin punch biopsies taken from the neck, knee, and ankle.
• Of 428 enrolled participants, 343 were included in the primary analysis (mean age, 69.5 years; 51.0% male); 223 met the consensus criteria for a synucleinopathy and 120 met criteria as controls after expert panel review.
• The proportions of individuals with cutaneous phosphorylated α-synuclein detected by skin biopsy were 92.7% (89 of 96) with Parkinson's disease, 98.2% (54 of 55) with multiple system atrophy, 96.0% (48 of 50) with dementia with Lewy bodies, and 100% (22 of 22) with pure autonomic failure; 3.3% (4 of 120) of controls had cutaneous phosphorylated α-synuclein detected.

Source:

Gibbons C, et al. (2024, March 20). JAMA. Skin Biopsy Detection of Phosphorylated α-Synuclein in Patients With Synucleinopathies. https://pubmed.ncbi.nlm.nih.gov/38506839/