Diagnostic accuracy of research criteria for prodromal frontotemporal dementia
Authors: 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 ,   Genetic Frontotemporal dementia Initiative (GENFI), 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 
Published: January 2024

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.