Diagnostic value of skin RT-QuIC in Parkinson's disease: a two-laboratory study
Please always quote using this URN: urn:nbn:de:bvb:20-opus-260451
- Skin alpha-synuclein deposition is considered a potential biomarker for Parkinson's disease (PD). Real-time quaking-induced conversion (RT-QuIC) is a novel, ultrasensitive, and efficient seeding assay that enables the detection of minute amounts of alpha-synuclein aggregates. We aimed to determine the diagnostic accuracy, reliability, and reproducibility of alpha-synuclein RT-QuIC assay of skin biopsy for diagnosing PD and to explore its correlation with clinical markers of PD in a two-center inter-laboratory comparison study. Patients withSkin alpha-synuclein deposition is considered a potential biomarker for Parkinson's disease (PD). Real-time quaking-induced conversion (RT-QuIC) is a novel, ultrasensitive, and efficient seeding assay that enables the detection of minute amounts of alpha-synuclein aggregates. We aimed to determine the diagnostic accuracy, reliability, and reproducibility of alpha-synuclein RT-QuIC assay of skin biopsy for diagnosing PD and to explore its correlation with clinical markers of PD in a two-center inter-laboratory comparison study. Patients with clinically diagnosed PD (n = 34), as well as control subjects (n = 30), underwent skin punch biopsy at multiple sites (neck, lower back, thigh, and lower leg). The skin biopsy samples (198 in total) were divided in half to be analyzed by RT-QuIC assay in two independent laboratories. The a-synuclein RT-QuIC assay of multiple skin biopsies supported the clinical diagnosis of PD with a diagnostic accuracy of 88.9% and showed a high degree of inter-rater agreement between the two laboratories (92.2%). Higher alpha-synuclein seeding activity in RT-QuIC was shown in patients with longer disease duration and more advanced disease stage and correlated with the presence of REM sleep behavior disorder, cognitive impairment, and constipation. The alpha-synuclein RT-QuIC assay of minimally invasive skin punch biopsy is a reliable and reproducible biomarker for Parkinson's disease. Moreover, alpha-synuclein RT-QuIC seeding activity in the skin may serve as a potential indicator of progression as it correlates with the disease stage and certain non-motor symptoms.…
| Author: | Anastasia KuzkinaORCiD, Connor Bargar, Daniela Schmitt, Jonas Rößle, Wen Wang, Anna-Lena Schubert, Curtis Tatsuoka, Steven A. GunzlerORCiD, Wen-Quan Zou, Jens Volkmann, Claudia Sommer, Kathrin DopplerORCiD, Shu G. ChenORCiD |
|---|---|
| URN: | urn:nbn:de:bvb:20-opus-260451 |
| Document Type: | Journal article |
| Faculties: | Medizinische Fakultät / Neurologische Klinik und Poliklinik |
| Language: | English |
| Parent Title (English): | NPJ Parkinson's Disease |
| Year of Completion: | 2021 |
| Volume: | 7 |
| Issue: | 1 |
| Article Number: | 99 |
| Source: | NPJ Parkinson's Disease (2021) 7:1, 99. https://doi.org/10.1038/s41531-021-00242-2 |
| DOI: | https://doi.org/10.1038/s41531-021-00242-2 |
| Dewey Decimal Classification: | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
| Tag: | Parkinson's disease; diagnostic markers |
| Release Date: | 2022/03/31 |
| Open-Access-Publikationsfonds / Förderzeitraum 2021 | |
| Licence (German): |  CC BY: Creative-Commons-Lizenz: Namensnennung 4.0 International |