BACKGROUND: Evidence suggests that skin represents a suitable matrix for demonstrating α-synuclein oligomers as a diagnostic biomarker for Lewy body disease. OBJECTIVE: The objective of this study was to evaluate the diagnostic performance of skin α-syn real-time quaking-induced conversion assay in patients with Lewy body disease. METHODS: We analyzed skin punches taken in vitam (n = 69) or postmortem (n = 49) from patients with PD, dementia with Lew bodies (DLB), incidental Lewy body pathology, and neurological controls. Seventy-nine patients underwent both CSF and skin α-synuclein real-time quaking-induced conversion assay. RESULTS: Overall, the skin α-synuclein real-time quaking-induced conversion assay distinguished Lewy body disease patients with 94.1% accuracy (sensitivity, 89.2%; specificity, 96.3%). Assay sensitivity reached 94.1% in the 17 Lewy body disease patients analyzed in the cervical region. In patients with both CSF and skin samples, the 2 real-time quaking-induced conversion assay protocols yielded similar diagnostic accuracy (skin, 97.5%; CSF, 98.7%). CONCLUSION: Skin punch biopsies might represent a valid and convenient alternative to CSF analysis to demonstrate Lew body-related α-synuclein deposition in patients with Lewy body disease.
BACKGROUND: Evidence suggests that skin represents a suitable matrix for demonstrating α-synuclein oligomers as a diagnostic biomarker for Lewy body disease. OBJECTIVE: The objective of this study was to evaluate the diagnostic performance of skin α-syn real-time quaking-induced conversion assay in patients with Lewy body disease. METHODS: We analyzed skin punches taken in vitam (n = 69) or postmortem (n = 49) from patients with PD, dementia with Lew bodies (DLB), incidental Lewy body pathology, and neurological controls. Seventy-nine patients underwent both CSF and skin α-synuclein real-time quaking-induced conversion assay. RESULTS: Overall, the skin α-synuclein real-time quaking-induced conversion assay distinguished Lewy body diseasepatients with 94.1% accuracy (sensitivity, 89.2%; specificity, 96.3%). Assay sensitivity reached 94.1% in the 17 Lewy body diseasepatients analyzed in the cervical region. In patients with both CSF and skin samples, the 2 real-time quaking-induced conversion assay protocols yielded similar diagnostic accuracy (skin, 97.5%; CSF, 98.7%). CONCLUSION: Skin punch biopsies might represent a valid and convenient alternative to CSF analysis to demonstrate Lew body-related α-synuclein deposition in patients with Lewy body disease.
Authors: Marco J Russo; Christina D Orru; Luis Concha-Marambio; Simone Giaisi; Bradley R Groveman; Carly M Farris; Bret Holguin; Andrew G Hughson; David-Erick LaFontant; Chelsea Caspell-Garcia; Christopher S Coffey; Jennifer Mollon; Samantha J Hutten; Kalpana Merchant; Roland G Heym; Claudio Soto; Byron Caughey; Un Jung Kang Journal: Acta Neuropathol Commun Date: 2021-11-06 Impact factor: 7.801
Authors: Denis S Smirnov; Nicholas J Ashton; Kaj Blennow; Henrik Zetterberg; Joel Simrén; Juan Lantero-Rodriguez; Thomas K Karikari; Annie Hiniker; Robert A Rissman; David P Salmon; Douglas Galasko Journal: Acta Neuropathol Date: 2022-02-23 Impact factor: 15.887