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Benussi, Alberto; Premi, Enrico; Grassi, Mario; Alberici, Antonella; Cantoni, Valentina; Gazzina, Stefano; Archetti, Silvana; Gasparotti, Roberto; Fumagalli, Giorgio G.; Bouzigues, Arabella; Russell, Lucy L.; Samra, Kiran; Cash, David M.; Bocchetta, Martina; Todd, Emily G.; Convery, Rhian S.; Swift, Imogen; Sogorb-Esteve, Aitana; Heller, Carolin; van Swieten, John C.; Jiskoot, Lize C.; Seelaar, Harro; Sanchez-Valle, Raquel; Moreno, Fermin; Laforce, Jr Robert; Graff, Caroline; Synofzik, Matthis; Galimberti, Daniela; Rowe, James B.; Masellis, Mario; Tartaglia, Maria Carmela; Finger, Elizabeth; Vandenberghe, Rik; Mendonca, Alexandre; Tiraboschi, Pietro; Butler, Chris R.; Santana, Isabel; Gerhard, Alexander; Le Ber, Isabelle; Pasquier, Florence; Ducharme, Simon; Levin, Johannes; Sorbi, Sandro; Otto, Markus; Padovani, Alessandro; Rohrer, Jonathan D. und Borroni, Barbara (2024): Diagnostic accuracy of research criteria for prodromal frontotemporal dementia. In: Alzheimers Research & Therapy, Bd. 16, Nr. 1, 10 [PDF, 1MB]

Abstract

Background The Genetic Frontotemporal Initiative Staging Group has proposed clinical criteria for the diagnosis of prodromal frontotemporal dementia (FTD), termed mild cognitive and/or behavioral and/or motor impairment (MCBMI). The objective of the study was to validate the proposed research criteria for MCBMI-FTD in a cohort of genetically confirmed FTD cases against healthy controls.Methods A total of 398 participants were enrolled, 117 of whom were carriers of an FTD pathogenic variant with mild clinical symptoms, while 281 were non-carrier family members (healthy controls (HC)). A subgroup of patients underwent blood neurofilament light (NfL) levels and anterior cingulate atrophy assessment.Results The core clinical criteria correctly classified MCBMI vs HC with an AUC of 0.79 (p < 0.001), while the addition of either blood NfL or anterior cingulate atrophy significantly increased the AUC to 0.84 and 0.82, respectively (p < 0.001). The addition of both markers further increased the AUC to 0.90 (p < 0.001).Conclusions The proposed MCBMI criteria showed very good classification accuracy for identifying the prodromal stage of FTD.

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