ArticleMovement disorders clinical practice2026
Utilization of Skin Punch Biopsy for the Diagnosis of α-Synucleinopathy in Clinical Practice.
Article in Movement disorders clinical practice, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
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Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Cutaneous α-Synuclein and Age Spots in Neurodegeneration: A Systematic Review and Testable Hypothesis.International journal of molecular sciences · 2025Pooled it
- The Syn-sleep trial protocol: detection of cutaneous phosphorylated alpha-synuclein in REM sleep behavior disorder.Biomarkers in medicine · 2026Article
- Cutaneous α-Synuclein Pathology as a Differential Marker: A Histological and Statistical Comparison across Neurodegenerative Disease Groups.Journal of molecular neuroscience : MN · 2026Article
- The Syn-Q study: detection of cutaneous phosphorylated alpha-synuclein in Parkinson's disease progression: a trial protocol.Frontiers in neurology · 2026Article
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSkin punch biopsy has been investigated as a minimally invasive tool to aid in the diagnosis of idiopathic Parkinson's disease (IPD) via detection of cutaneous phosphorylated α-synuclein. The use and impact of this tool in clinical practice has not been well-characterized.
objectiveTo understand the utilization of skin punch biopsies for diagnosis and management of α-synucleinopathy within a large medical system.
methodsThree hundred charts of patients who underwent skin punch biopsy were reviewed. Of these, 149 (49.7%) met criteria for analysis (concern for α-synucleinopathy, age over 40). Demographic data, outpatient neurology and primary care notes, and imaging results were reviewed alongside biopsy results.
resultsOf 149 biopsies, 70% (N = 105) were positive in at least one skin sample. There was no statistically significant relationship between any pre-biopsy symptom and a positive result. Most patients identified as white (N = 124, 83%) and non-Hispanic (N = 131, 88%). The sex distribution was roughly equal (52% male, 48% female). While most tests were ordered for IPD or an unspecified primary parkinsonism, other clinical concerns included dementia with Lewy bodies (N = 41, 28%) and multiple system atrophy (N = 6, 4%). Only 4% of biopsies (N = 6) were ordered by movement disorders specialists. Results changed or strengthened diagnosis in 52% of cases and changed management in 60% of cases.
conclusionsSkin punch biopsies are being used broadly with impactful results. However, there appears to be potential disparity in access to this test. Further research is required to inform clinical guidelines and promote equity in the use of this novel biomarker.
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