To assess how p-syn skin biopsy is being applied clinically by auditing its use in an academic medical center.

Cutaneous deposition of p-syn is found in synucleinopathies including Parkinson’s disease (PD), multiple system atrophy (MSA), dementia with Lewy body (DLB), and pure autonomic failure (PAF). Skin biopsy assessing for the presence of p-syn is an emerging diagnostic tool with reported good sensitivity and high specificity for detecting synucleinopathies. Commercial cutaneous testing for p-syn is now available in the US, though not yet in widespread clinical use despite its minimally invasive nature and relative accessibility in comparison to other testings such as DaTscan and MIBG myocardial scintigraphy.

All patients followed at our center who had undergone p-syn skin biopsy since its commercial availability were identified and their electronic medical records reviewed.

10 patients underwent skin biopsies for p-sync from June 2021 to August 2022. 7 had isolated autonomic dysfunction; 2 had parkinsonism but potential alternative explanations (i.e. hydrocephalus, antidopaminergic medications), and 1 had speech apraxia with a question of Alzheimer or DLB.  5 of 7 patients with autonomic dysfunction had positive biopsies, obviating the search for other etiologies such as autoimmune disease or amyloidosis. The other 3 patients were also found to be p-sync positive. Affirming this diagnosis positively impacted subsequent monitoring and management and enabled accurate prognostication.

Skin biopsy is a useful tool for diagnosing synucleinopathy in patients presenting with autonomic dysfunction. It can also add diagnostic value in patients with parkinsonism and other potential competing explanations.