Diagnostic value of skin RT-QuIC in Parkinson’s disease: a two-laboratory study
Abstract Skin α-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 α-synuclein aggregates. We aimed to determine...
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Nature Portfolio
2021
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oai:doaj.org-article:3a90bad7b05e46a19ec4caa2173569982021-11-21T12:26:41ZDiagnostic value of skin RT-QuIC in Parkinson’s disease: a two-laboratory study10.1038/s41531-021-00242-22373-8057https://doaj.org/article/3a90bad7b05e46a19ec4caa2173569982021-11-01T00:00:00Zhttps://doi.org/10.1038/s41531-021-00242-2https://doaj.org/toc/2373-8057Abstract Skin α-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 α-synuclein aggregates. We aimed to determine the diagnostic accuracy, reliability, and reproducibility of α-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 α-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 α-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 α-synuclein RT-QuIC assay of minimally invasive skin punch biopsy is a reliable and reproducible biomarker for Parkinson’s disease. Moreover, α-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.Anastasia KuzkinaConnor BargarDaniela SchmittJonas RößleWen WangAnna-Lena SchubertCurtis TatsuokaSteven A. GunzlerWen-Quan ZouJens VolkmannClaudia SommerKathrin DopplerShu G. ChenNature PortfolioarticleNeurology. Diseases of the nervous systemRC346-429ENnpj Parkinson's Disease, Vol 7, Iss 1, Pp 1-11 (2021) |
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| topic |
Neurology. Diseases of the nervous system RC346-429 |
| spellingShingle |
Neurology. Diseases of the nervous system RC346-429 Anastasia Kuzkina Connor Bargar Daniela Schmitt Jonas Rößle Wen Wang Anna-Lena Schubert Curtis Tatsuoka Steven A. Gunzler Wen-Quan Zou Jens Volkmann Claudia Sommer Kathrin Doppler Shu G. Chen Diagnostic value of skin RT-QuIC in Parkinson’s disease: a two-laboratory study |
| description |
Abstract Skin α-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 α-synuclein aggregates. We aimed to determine the diagnostic accuracy, reliability, and reproducibility of α-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 α-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 α-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 α-synuclein RT-QuIC assay of minimally invasive skin punch biopsy is a reliable and reproducible biomarker for Parkinson’s disease. Moreover, α-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. |
| format |
article |
| author |
Anastasia Kuzkina Connor Bargar Daniela Schmitt Jonas Rößle Wen Wang Anna-Lena Schubert Curtis Tatsuoka Steven A. Gunzler Wen-Quan Zou Jens Volkmann Claudia Sommer Kathrin Doppler Shu G. Chen |
| author_facet |
Anastasia Kuzkina Connor Bargar Daniela Schmitt Jonas Rößle Wen Wang Anna-Lena Schubert Curtis Tatsuoka Steven A. Gunzler Wen-Quan Zou Jens Volkmann Claudia Sommer Kathrin Doppler Shu G. Chen |
| author_sort |
Anastasia Kuzkina |
| title |
Diagnostic value of skin RT-QuIC in Parkinson’s disease: a two-laboratory study |
| title_short |
Diagnostic value of skin RT-QuIC in Parkinson’s disease: a two-laboratory study |
| title_full |
Diagnostic value of skin RT-QuIC in Parkinson’s disease: a two-laboratory study |
| title_fullStr |
Diagnostic value of skin RT-QuIC in Parkinson’s disease: a two-laboratory study |
| title_full_unstemmed |
Diagnostic value of skin RT-QuIC in Parkinson’s disease: a two-laboratory study |
| title_sort |
diagnostic value of skin rt-quic in parkinson’s disease: a two-laboratory study |
| publisher |
Nature Portfolio |
| publishDate |
2021 |
| url |
https://doaj.org/article/3a90bad7b05e46a19ec4caa217356998 |
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