Author:
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,
Abstract
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.