Objective: To assess cutaneous pathological Alpha-syn deposition in patients with iRBD, PD, atypical parkinsonism and controls.

Background: Peripheral autonomic neurodegeneration may occur in early stages of Parkinson’s disease (PD). Recently, it has been suggested that detection of pathological alpha synuclein (Alpha-syn) deposition in skin biopsies can be used to identify patients with PD during life. This has considerable implications for clinical diagnosis, and for clinical trials of synuclein-based therapy. Moreover, if deposition occurs early in PD, it may also be present in prodromal PD, for example in idiopathic REM sleep behavior disorder (iRBD).

Methods: 71 subjects (20 iRBD, 20 PD, 10 atypical parkinsonism and 21 age-matched controls) were included in the study. A single 3mm punch skin biopsy was taken from the paravertebral C8 area. Formalin-fixed, paraffin embedded biopsies were stained for pathological Alpha-syn in an automated tissue staining system using a rabbit monoclonal antibody against Alpha-syn combined with epitope retrieval pre-treatments. Immunohistochemistry assessors were blinded to diagnosis.

Results: Skin biopsies from 15 PD, 16 controls and 5 atypical parkinsonism were analysed so far, using only two slides per subject, pathological Alpha-syn deposition was visualized in the majority of PD patients. Pathological synuclein staining exhibited a discrete morphology with smooth contours and was deposited in skin structures known to be highly innervated. Full results based upon extensive sampling of all patients in a larger cohort of 71 subjects will be presented.

Conclusions: Even using a single 3mm punch sample, there is considerable promise for using pathological Alpha-Syn depositions in skin as a specific marker of synucleinopathy of clinical and prodromal PD.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/skin-deposition-of-pathological-alpha-synuclein-in-idiopathic-rem-sleep-behavior-disorder-and-parkinsonism/