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. 2023 Jun;38(6):1077-1082.
doi: 10.1002/mds.29340. Epub 2023 Feb 7.

Dermal Real-Time Quaking-Induced Conversion Is a Sensitive Marker to Confirm Isolated Rapid Eye Movement Sleep Behavior Disorder as an Early α-Synucleinopathy

Anastasia Kuzkina  1 , Celine Panzer  1 , Aline Seger  2 , Daniela Schmitt  1 , Jonas Rößle  1 , Sebastian R Schreglmann  1 , Henrike Knacke  3 , Elena Salabasidou  1 , Antonia Kohl  1 , Elisabeth Sittig  4 , Michael Barbe  2 , Daniela Berg  3 , Jens Volkmann  1 , Claudia Sommer  1 , Wolfgang H Oertel  4   5 , Eva Schaeffer  3 , Michael Sommerauer  2   6 , Annette Janzen  4 , Kathrin Doppler  1
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Dermal Real-Time Quaking-Induced Conversion Is a Sensitive Marker to Confirm Isolated Rapid Eye Movement Sleep Behavior Disorder as an Early α-Synucleinopathy

Anastasia Kuzkina et al. Mov Disord. 2023 Jun.

Abstract

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.

Keywords: Parkinson's disease; rapid eye movement sleep behavior disorder; real-time quaking-induced conversion; skin biopsy; α-synuclein.

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References

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    1. Tsukita K, Sakamaki-Tsukita H, Tanaka K, Suenaga T, Takahashi R. Value of in vivo alpha-synuclein deposits in Parkinson's disease: a systematic review and meta-analysis. Mov Disord 2019;34:1452-1463.
    1. Miglis MG, Adler CH, Antelmi E, et al. Biomarkers of conversion to alpha-synucleinopathy in isolated rapid-eye-movement sleep behaviour disorder. Lancet Neurol 2021;20:671-684.
    1. Doppler K, Ebert S, Uceyler N, et al. Cutaneous neuropathy in Parkinson's disease: a window into brain pathology. Acta Neuropathol 2014;128:99-109.
    1. Donadio V, Incensi A, Leta V, et al. Skin nerve alpha-synuclein deposits: a biomarker for idiopathic Parkinson disease. Neurology 2014;82:1362-1369.

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