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RT‐QuIC Detection of Pathological α‐Synuclein in Skin Punches of Patients with Lewy Body Disease
Author(s) -
Mammana Angela,
Baiardi Simone,
Quadalti Corinne,
Rossi Marcello,
Donadio Vincenzo,
Capellari Sabina,
Liguori Rocco,
Parchi Piero
Publication year - 2021
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.28651
Subject(s) - lewy body , dementia with lewy bodies , pathology , medicine , pathological , lewy body disease , parkinson's disease , disease , biomarker , dementia , biology , biochemistry
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. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society