Objective: The goal of this study is to review the real-world application of alpha-synuclein skin biopsy at a tertiary care center.

Background: Synucleniopathies including Parkinson’s disease (PD), dementia with Lewy bodies (DLB), multiple system atrophy (MSA), and pure autonomic failure (PAF) are heterogenous disorders that carry distinct clinical features but share many prodromal and early symptoms. Early diagnosis is challenging even for subspecialized physicians. Alpha-synuclein (a-syn) skin biopsy became clinically available in 2019 as a diagnostic tool for synucleinopathies. In this retrospective chart review study, we explored the utility of a -syn skin biopsy as a diagnostic tool in patients with possible synucleinopathies at a tertiary care center.

Method: Data were collected from subjects who underwent a-syn skin biopsy testing between June 2021 to January 2023 at the Medical Center of South Carolina (MUSC) Movement Disorders Clinic. Baseline characteristics, pre- and post- a-syn skin biopsy diagnosis, motor and nonmotor symptoms, a -syn skin biopsy results, neuroimaging and cerebrospinal fluid analyses were collected. Primary outcome was to compare clinical diagnosis pre- and post- a-syn skin biopsy. Subjects were further divided into subgroups of PD, MSA, or other based on post-biopsy clinical diagnosis. Distribution of phosphorylated a-synuclein and peripheral neuropathy were analyzed.

Results: 86 subjects underwent the analysis and 68 were found to have phosphorylated a-synuclein depositions (79.07%). The pathologic test result led to a diagnosis change in 27 subjects (32.95%, n = 82). 24 subjects had DaTscan results and 67% were concordant with pathologic findings on skin biopsy. Subgroup analysis showed that MSA subjects are more likely to report constipation (94%), dream enactment behavior (72%) and less likely to report history of neuropathy (27.8%) compared to those of PD and others.

Conclusion: a-syn skin biopsy can provide clinically meaningful data in the diagnosis of synucleinopathies and led to a diagnosis change up to nearly one-third of the time at a tertiary care center. Future studies on its diagnostic accuracy, long-term clinical data, and cost analysis compared to other diagnostic tools will be helpful to further elucidate its clinical utility.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/real-world-application-of-alpha-synuclein-skin-biopsy-in-the-diagnosis-of-synucleinopathies-at-a-tertiary-care-center/