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Published in: Alzheimer's Research & Therapy 1/2024

Open Access 01-12-2024 | Frontotemporal Dementia | Research

Diagnostic accuracy of research criteria for prodromal frontotemporal dementia

Authors: Alberto Benussi, Enrico Premi, Mario Grassi, Antonella Alberici, Valentina Cantoni, Stefano Gazzina, Silvana Archetti, Roberto Gasparotti, Giorgio G. Fumagalli, Arabella Bouzigues, Lucy L. Russell, Kiran Samra, David M. Cash, Martina Bocchetta, Emily G. Todd, Rhian S. Convery, Imogen Swift, Aitana Sogorb-Esteve, Carolin Heller, John C. van Swieten, Lize C. Jiskoot, Harro Seelaar, Raquel Sanchez-Valle, Fermin Moreno, Robert Jr. Laforce, Caroline Graff, Matthis Synofzik, Daniela Galimberti, James B. Rowe, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre Mendonça, Pietro Tiraboschi, Chris R. Butler, Isabel Santana, Alexander Gerhard, Isabelle Le Ber, Florence Pasquier, Simon Ducharme, Johannes Levin, Sandro Sorbi, Markus Otto, Alessandro Padovani, Jonathan D. Rohrer, Barbara Borroni, Genetic Frontotemporal dementia Initiative (GENFI)

Published in: Alzheimer's Research & Therapy | Issue 1/2024

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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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Metadata
Title
Diagnostic accuracy of research criteria for prodromal frontotemporal dementia
Authors
Alberto Benussi
Enrico Premi
Mario Grassi
Antonella Alberici
Valentina Cantoni
Stefano Gazzina
Silvana Archetti
Roberto Gasparotti
Giorgio G. Fumagalli
Arabella Bouzigues
Lucy L. Russell
Kiran Samra
David M. Cash
Martina Bocchetta
Emily G. Todd
Rhian S. Convery
Imogen Swift
Aitana Sogorb-Esteve
Carolin Heller
John C. van Swieten
Lize C. Jiskoot
Harro Seelaar
Raquel Sanchez-Valle
Fermin Moreno
Robert Jr. Laforce
Caroline Graff
Matthis Synofzik
Daniela Galimberti
James B. Rowe
Mario Masellis
Maria Carmela Tartaglia
Elizabeth Finger
Rik Vandenberghe
Alexandre Mendonça
Pietro Tiraboschi
Chris R. Butler
Isabel Santana
Alexander Gerhard
Isabelle Le Ber
Florence Pasquier
Simon Ducharme
Johannes Levin
Sandro Sorbi
Markus Otto
Alessandro Padovani
Jonathan D. Rohrer
Barbara Borroni
Genetic Frontotemporal dementia Initiative (GENFI)
Publication date
01-12-2024
Publisher
BioMed Central
Published in
Alzheimer's Research & Therapy / Issue 1/2024
Electronic ISSN: 1758-9193
DOI
https://doi.org/10.1186/s13195-024-01383-1

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