Alzheimer’s Research & Therapy (Jan 2024)
Diagnostic accuracy of research criteria for prodromal frontotemporal dementia
- 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)
Affiliations
- Alberto Benussi
- Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia
- Enrico Premi
- Vascular Neurology Unit, Department of Neurological and Vision Sciences, ASST Spedali Civili di Brescia
- Mario Grassi
- Department of Brain and Behavioral Science, Medical and Genomic Statistics Unit, University of Pavia
- Antonella Alberici
- Neurology Unit, Department of Neurological and Vision Sciences, ASST Spedali Civili di Brescia
- Valentina Cantoni
- Department of Molecular and Translational Medicine, University of Brescia
- Stefano Gazzina
- Department of Neurological and Vision Sciences, Neurophysiology Unit, ASST Spedali Civili di Brescia
- Silvana Archetti
- Biotechnology Laboratory, Department of Diagnostics, ASST Spedali Civili di Brescia
- Roberto Gasparotti
- Department of Medical and Surgical Specialties, Neuroradiology Unit, University of Brescia
- Giorgio G. Fumagalli
- Center for Mind/Brain Sciences-CIMeC, University of Trento
- Arabella Bouzigues
- Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square
- Lucy L. Russell
- Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square
- Kiran Samra
- Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square
- David M. Cash
- Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square
- Martina Bocchetta
- Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square
- Emily G. Todd
- Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square
- Rhian S. Convery
- Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square
- Imogen Swift
- Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square
- Aitana Sogorb-Esteve
- Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square
- Carolin Heller
- Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square
- John C. van Swieten
- Department of Neurology, Erasmus Medical Centre
- Lize C. Jiskoot
- Department of Neurology, Erasmus Medical Centre
- Harro Seelaar
- Department of Neurology, Erasmus Medical Centre
- Raquel Sanchez-Valle
- Alzheimer’s Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clinic, Institut d’Investigacións Biomèdiques August Pi I Sunyer, University of Barcelona
- Fermin Moreno
- Cognitive Disorders Unit, Department of Neurology, Donostia University Hospital
- Robert Jr. Laforce
- Clinique Interdisciplinaire de Mémoire, Département des Sciences Neurologiques, CHU de Québec, and Facultéde Médecine, Université Laval
- Caroline Graff
- Center for Alzheimer Research, Division of Neurogeriatrics, Department of Neurobiology, Care Sciences and Society, Bioclinicum, Karolinska Institutet
- Matthis Synofzik
- Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tubingen
- Daniela Galimberti
- Fondazione IRCCS Ca’ Granda, Ospedale Maggiore Policlinico
- James B. Rowe
- Department of Clinical Neurosciences and Cambridge University Hospitals NHS Trust and Medical Research Council Cognition and Brain Sciences Unit, University of Cambridge
- Mario Masellis
- Sunnybrook Health Sciences Centre, Sunnybrook Research Institute, University of Toronto
- Maria Carmela Tartaglia
- Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto
- Elizabeth Finger
- Department of Clinical Neurological Sciences, University of Western Ontario
- Rik Vandenberghe
- Laboratory for Cognitive Neurology, Department of Neurosciences, KU Leuven
- Alexandre Mendonça
- Faculty of Medicine, University of Lisbon
- Pietro Tiraboschi
- Fondazione IRCCS Istituto Neurologico Carlo Besta
- Chris R. Butler
- Nuffield Department of Clinical Neurosciences, Medical Sciences Division, University of Oxford
- Isabel Santana
- Neurology Service, Faculty of Medicine, University Hospital of Coimbra (HUC), University of Coimbra
- Alexander Gerhard
- Division of Neuroscience and Experimental Psychology, Wolfson Molecular Imaging Centre, University of Manchester
- Isabelle Le Ber
- Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière
- Florence Pasquier
- Univ Lille
- Simon Ducharme
- Douglas Mental Health University Institute, Department of Psychiatry, McGill University
- Johannes Levin
- Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität
- Sandro Sorbi
- Department of Neurofarba, University of Florence
- Markus Otto
- Department of Neurology, University of Ulm
- Alessandro Padovani
- Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia
- Jonathan D. Rohrer
- Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square
- Barbara Borroni
- Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia
- Genetic Frontotemporal dementia Initiative (GENFI)
- DOI
- https://doi.org/10.1186/s13195-024-01383-1
- Journal volume & issue
-
Vol. 16,
no. 1
pp. 1 – 12
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.
Keywords
