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Diagnostic Performance of the α-Synuclein Seed Amplification Assay for Dementia With Lewy Bodies: A Comparison Across 4 Laboratories

Title: Diagnostic Performance of the α-Synuclein Seed Amplification Assay for Dementia With Lewy Bodies: A Comparison Across 4 Laboratories
Authors: Kumar, Rakesh; Gravett, Stephanie; Jelic, Vesna; Lange, Johannes; Oftedal, Linn; Ciullini, Arianna; Bacınoglu, Merve Begum; De Luca, Chiara Maria Giulia; Hamied, Lola; Birck, Catherine; Blanc, Frederic; Hoede, Patty L; Lemstra, Afina W; Gonzalez, Maria Camila; Aarsland, Dag; Teunissen, Charlotte E; Bousiges, Olivier; Moda, Fabio; Maple-Grødem, Jodi; Abelein, Axel; Ferreira, Daniel
Contributors: R. Kumar; S. Gravett; V. Jelic; J. Lange; L. Oftedal; A. Ciullini; M.B. Bacınoglu; C.M.G. De Luca; L. Hamied; C. Birck; F. Blanc; P.L. Hoede; A.W. Lemstra; M.C. Gonzalez; D. Aarsland; C.E. Teunissen; O. Bousige; F. Moda; J. Maple-Grødem; A. Abelein; D. Ferreira
Publisher Information: Wolters Kluwer
Publication Year: 2026
Collection: The University of Milan: Archivio Istituzionale della Ricerca (AIR)
Subject Terms: Settore BIOS-09/A - Biochimica clinica e biologia molecolare clinica; Settore BIOS-07/A - Biochimica; Settore MEDS-12/A - Neurologia
Description: Background and objectives: The α-synuclein (α-syn) seed amplification assay (SAA) has shown promising results for diagnosing dementia with Lewy bodies (DLB) using CSF samples. A barrier to implementing α-syn SAA clinically is the use of different protocols for the assay. It is unknown how different protocols perform in comparison with each other. We compared the performance of α-syn SAA across 4 laboratories using CSF samples of patients with DLB. Methods: This was a retrospective cross-sectional study that included data from 4 different European laboratories. We included probable patients with DLB with a positive dopamine transporter (DaT)-SCAN and known amyloid-β status who had mild-to-moderate dementia, along with age-matched and sex-matched controls. The α-syn SAA was run across 4 laboratories using different protocols varying α-syn concentration and plate reader settings. CSF samples were provided by a fifth independent laboratory, which also performed statistical and result analyses. Results: We included 20 patients with DLB (mean age 67 ± 6 years, 60% male) and 10 controls (mean age 67 ± 2 years, 70% male). Neuropathologic confirmation was available for 2 patients with DLB. On average, the 4 laboratories achieved 78.8% sensitivity (minimum 55%, maximum 100%), 77.5% specificity (minimum 60%, maximum 100%), and 78.5% accuracy (minimum 57%, maximum 100%) for discriminating DLB from controls, but our findings show that diagnostic performance of SAA varied across laboratories: Lab A achieved 100% sensitivity (CI 84%-100%) and 100% specificity (CI 72%-100%); Lab B achieved 85% sensitivity (CI 64%-95%) and 90% specificity (CI 59%-99%); Lab C achieved 55% sensitivity (CI 34%-74%) and 60% specificity (CI 31%-83%); and Lab D achieved 75% sensitivity (CI 53%-89%) and 60% specificity (CI 31%-83%). In general, SAA results showed numerically lower sensitivity in β-amyloid (Aβ)-positive patients with DLB (70%) compared with Aβ-negative patients with DLB (87.5%) (nonstatistically significant). A fair agreement of SAA ...
Document Type: article in journal/newspaper
Language: English
Relation: info:eu-repo/semantics/altIdentifier/pmid/41604609; volume:106; issue:4; firstpage:1; lastpage:11; numberofpages:11; journal:NEUROLOGY; https://hdl.handle.net/2434/1219288
DOI: 10.1212/WNL.0000000000214614
Availability: https://hdl.handle.net/2434/1219288; https://doi.org/10.1212/WNL.0000000000214614
Rights: info:eu-repo/semantics/openAccess ; license:Creative commons ; license uri:http://creativecommons.org/licenses/by/4.0/
Accession Number: edsbas.C32C4A42
Database: BASE