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.
Diagnostic accuracy of research criteria for prodromal frontotemporal dementia / 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, Robert; Graff, Caroline; Synofzik, Matthis; Galimberti, Daniela; Rowe, James B.; Masellis, Mario; Tartaglia, Maria Carmela; Finger, Elizabeth; Vandenberghe, Rik; Mendonça, 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.; Borroni, Barbara; Nelson, Annabel; Bocchetta, Martina; Thomas, David L.; Benotmane, Hanya; Nicholas, Jennifer; Shafei, Rachelle; Timberlake, Carolyn; Cope, Thomas; Rittman, Timothy; Arighi, Andrea; Fenoglio, Chiara; Scarpini, Elio; Borracci, Vittoria; Rossi, Giacomina; Giaccone, Giorgio; Di Fede, Giuseppe; Caroppo, Paola; Prioni, Sara; Redaelli, Veronica; Tang-Wai, David; Rogaeva, Ekaterina; Castelo-Branco, Miguel; Freedman, Morris; Keren, Ron; Black, Sandra; Mitchell, Sara; Shoesmith, Christen; Bartha, Robart; Rademakers, Rosa; Poos, Jackie; Papma, Janne M.; Giannini, Lucia; van Minkelen, Rick; Pijnenburg, Yolande; Nacmias, Benedetta; Ferrari, Camilla; Polito, Cristina; Lombardi, Gemma; Bessi, Valentina; Veldsman, Michele; Andersson, Christin; Thonberg, Hakan; Öijerstedt, Linn; Jelic, Vesna; Thompson, Paul; Langheinrich, Tobias; Lladó, Albert; Antonell, Anna; Olives, Jaume; Balasa, Mircea; Bargalló, Nuria; Borrego-Ecija, Sergi; Verdelho, Ana; Maruta, Carolina; Ferreira, Catarina B.; Miltenberger, Gabriel; do Couto, Frederico Simões; Gabilondo, Alazne; Gorostidi, Ana; Villanua, Jorge; Cañada, Marta; Tainta, Mikel; Zulaica, Miren; Barandiaran, Myriam; Alves, Patricia; Bender, Benjamin; Wilke, Carlo; Graf, Lisa; Vogels, Annick; Vandenbulcke, Mathieu; Van Damme, Philip; Bruffaerts, Rose; Poesen, Koen; Rosa-Neto, Pedro; Gauthier, Serge; Camuzat, Agnès; Brice, Alexis; Bertrand, Anne; Funkiewiez, Aurélie; Rinaldi, Daisy; Saracino, Dario; Colliot, Olivier; Sayah, Sabrina; Prix, Catharina; Wlasich, Elisabeth; Wagemann, Olivia; Loosli, Sandra; Schönecker, Sonja; Hoegen, Tobias; Lombardi, Jolina; Anderl-Straub, Sarah; Rollin, Adeline; Kuchcinski, Gregory; Bertoux, Maxime; Lebouvier, Thibaud; Deramecourt, Vincent; Santiago, Beatriz; Duro, Diana; Leitão, Maria João; Almeida, Maria Rosario; Tábuas-Pereira, Miguel; Afonso, Sónia; null, null. - In: ALZHEIMER'S RESEARCH & THERAPY. - ISSN 1758-9193. - ELETTRONICO. - 16:(2024), pp. 10.0-10.0. [10.1186/s13195-024-01383-1]
Diagnostic accuracy of research criteria for prodromal frontotemporal dementia
Sorbi, Sandro;Nacmias, Benedetta;Ferrari, Camilla;Lombardi, Gemma;Bessi, Valentina;
2024
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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