Objective: To describe the utilization patterns of skin biopsy for phosphorylated alpha-synuclein (P-syn) aggregation obtained from three sites (posterior cervical, distal thigh, distal leg) and its impact on patient management at a single movement disorders center.
Background: The P-syn skin test helps differentiate parkinsonian syndromes by determining whether they are synucleinopathy-related, thus acting as a biomarker. However, its role and overall impact in clinical practice remain underexplored.
Method: We included all patients referred for a P-syn skin biopsy at the Cleveland Clinic Center for Neurological Restoration between January 1 and December 31, 2024. Data were manually extracted from electronic medical records, including demographics, clinical measures, biopsy results, and management implications up to two visits after receiving the results.
Results: At the time of writing, results were available for 56 patients (mean age 70.8 ± 8.3 years; 63.6% male; symptom duration 3.4 ± 2.8 years; MDS-UPDRS Part III: 34.5 ± 15.0; 91.1% white). Biopsies were ordered primarily to confirm a synucleinopathy (41.1% of cases, 60.9% abnormal), distinguish essential tremor from Parkinson’s disease (23.2%, 30.8% abnormal), differentiate from drug-induced parkinsonism (19.7%, 45.5% abnormal), or from progressive supranuclear palsy (12.5%, 14.3% abnormal) and functional movement disorder (3.6%, 0% abnormal). Biopsy results helped solidify the diagnoses in 88.2% of cases and influenced management in 73.0% (among those, leading to medication adjustments in 83.8% and referrals for consultation or clinical trials in 35.1%).
Conclusion: Skin biopsies contribute significantly to the diagnosis and management of patients with suspected synucleinopathies, with results solidifying the diagnosis and influencing management in the majority of cases.
To cite this abstract in AMA style:
S. Anis, A. Kundrick, C. Piccinin, T. Lopez-Gonzalez, D. Dos Santos, H. Fernandez. Utilization of Phosphorylated Alpha-Synuclein Skin Biopsy Testing in a Movement Disorders Center [abstract]. Mov Disord. 2025; 40 (suppl 1). https://www.mdsabstracts.org/abstract/utilization-of-phosphorylated-alpha-synuclein-skin-biopsy-testing-in-a-movement-disorders-center/. Accessed November 20, 2025.« Back to 2025 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/utilization-of-phosphorylated-alpha-synuclein-skin-biopsy-testing-in-a-movement-disorders-center/