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Kuzkina, A.* ; Panzer, C.* ; Seger, A.* ; Schmitt, D.* ; Rößle, J.* ; Schreglmann, S.R.* ; Knacke, H.* ; Salabasidou, E.* ; Kohl, A.* ; Sittig, E.* ; Barbe, M.* ; Berg, D.* ; Volkmann, J.* ; Sommer, C.* ; Oertel, W.H. ; Schaeffer, E.* ; Sommerauer, M.* ; Janzen, A.* ; Doppler, K.*

Dermal real-time quaking-induced conversion is a sensitive marker to confirm isolated rapid eye movement sleep behavior disorder as an early α-synucleinopathy.

Mov. Disord. 38, 1077-1082 (2023)

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Background: Skin biopsy is a potential tool for the premortem confirmation of an α-synucleinopathy. Objective: The aim was to assess the aggregation assay real-time quaking-induced conversion (RT-QuIC) of skin biopsy lysates to confirm isolated rapid eye movement sleep behavior disorder (iRBD) as an α-synucleinopathy. Methods: Skin biopsies of patients with iRBD, Parkinson's disease (PD), and controls were analyzed using RT-QuIC and immunohistochemical detection of phospho-α-synuclein. Results: α-Synuclein aggregation was detected in 97.4% of iRBD patients (78.4% of iRBD biopsies), 87.2% of PD patients (70% of PD biopsies), and 13% of controls (7.9% of control biopsies), with a higher seeding activity in iRBD compared to PD. RT-QuIC was more sensitive but less specific than immunohistochemistry. Conclusions: Dermal RT-QuIC is a sensitive method to detect α-synuclein aggregation in iRBD, and high seeding activity may indicate a strong involvement of dermal nerve fibers in these patients. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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