Phosphorylated alpha-synuclein skin biopsy alters diagnosis in two out of three patients: Initial findings in a tertiary center.

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BackgroundSkin biopsy testing for phosphorylated alpha-synuclein (P-syn) is an emerging diagnostic tool for synucleinopathies, but its clinical utility remains to be properly defined. We thus aimed to assess its impact on diagnostic clarification and clinical management in parkinsonian patients in a tertiary movement disorders center.MethodsWe included all patients referred for synuclein skin biopsy at the Cleveland Clinic between January and December 2024. Demographic and clinical data, including biopsy results and their effects on diagnosis and management, were extracted from electronic medical records. Diagnostic impressions and changes were blindly assessed by two independent reviewers based on ICD-10 codes and clinical notes and disagreements were resolved by a third reviewer.ResultsOf the 110 patients referred for skin biopsy, only two-thirds (73, 66.4%) completed the procedure. Among those with pre-biopsy working diagnosis (n = 39), biopsy results led to a diagnostic change in over half of the patients (56.4%, 22/39). In patients with an indeterminate diagnosis before biopsy (n = 34), the procedure clarified the diagnosis in 76.5% (26/34). Approximately one out of five (20.5%, 15/73) remained without a definitive diagnosis. In patients with diagnostic impact, biopsy influenced management in 77.1% (37/48).ConclusionsSynuclein skin biopsy had a meaningful impact in most, but not all, patients, on diagnostic clarification and treatment decisions. Moreover, its optimal utilization and interpretation are still evolving, along with our knowledge about the correlation of skin pathology with brain pathology.

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