Diagnostic accuracy of research criteria for prodromal frontotemporal dementia

Springer Science and Business Media LLC - Tập 16 - Trang 1-12 - 2024
Alberto Benussi1,2, Enrico Premi3, Mario Grassi4, Antonella Alberici2, Valentina Cantoni5, Stefano Gazzina6, Silvana Archetti7, Roberto Gasparotti8, Giorgio G. Fumagalli9, Arabella Bouzigues10, Lucy L. Russell10, Kiran Samra10, David M. Cash10, Martina Bocchetta10, Emily G. Todd10, Rhian S. Convery10, Imogen Swift10,11, Aitana Sogorb-Esteve10,11, Carolin Heller10,11, John C. van Swieten12, Lize C. Jiskoot12, Harro Seelaar12, Raquel Sanchez-Valle13, Fermin Moreno14,15, Robert Jr. Laforce16, Caroline Graff17,18, Matthis Synofzik19,20, Daniela Galimberti21,22, James B. Rowe23, Mario Masellis24, Maria Carmela Tartaglia25, Elizabeth Finger26, Rik Vandenberghe27,28,29, Alexandre Mendonça30, Pietro Tiraboschi31, Chris R. Butler32,33, Isabel Santana34,35, Alexander Gerhard36,37,38, Isabelle Le Ber39,40,41, Florence Pasquier42,43,44, Simon Ducharme45,46, Johannes Levin47,48,49, Sandro Sorbi50,51, Markus Otto52, Alessandro Padovani1,2, Jonathan D. Rohrer10,11, Barbara Borroni1,2
1Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy
2Neurology Unit, Department of Neurological and Vision Sciences, ASST Spedali Civili di Brescia, Brescia, Italy
3Vascular Neurology Unit, Department of Neurological and Vision Sciences, ASST Spedali Civili di Brescia, Brescia, Italy
4Department of Brain and Behavioral Science, Medical and Genomic Statistics Unit, University of Pavia, Pavia, Italy
5Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy
6Department of Neurological and Vision Sciences, Neurophysiology Unit, ASST Spedali Civili di Brescia, Brescia, Italy
7Biotechnology Laboratory, Department of Diagnostics, ASST Spedali Civili di Brescia, Brescia, Italy
8Department of Medical and Surgical Specialties, Neuroradiology Unit, University of Brescia, Brescia, Italy
9Center for Mind/Brain Sciences-CIMeC, University of Trento, Rovereto, Italy
10Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square, London, UK
11UK Dementia Research Institute at UCL, London, UK
12Department of Neurology, Erasmus Medical Centre, Rotterdam, The Netherlands
13Alzheimer’s Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clinic, Institut d’Investigacións Biomèdiques August Pi I Sunyer, University of Barcelona, Barcelona, Spain
14Cognitive Disorders Unit, Department of Neurology, Donostia University Hospital, San Sebastian, Spain
15Neuroscience Area, Biodonostia Health Research Institute, San Sebastian, Spain
16Clinique Interdisciplinaire de Mémoire, Département des Sciences Neurologiques, CHU de Québec, and Facultéde Médecine, Université Laval, Quebec City, Canada
17Center for Alzheimer Research, Division of Neurogeriatrics, Department of Neurobiology, Care Sciences and Society, Bioclinicum, Karolinska Institutet, Solna, Sweden
18Unit for Hereditary Dementias, Theme Aging, Karolinska University Hospital, Solna, Sweden
19Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tubingen, Tubingen, Germany
20Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany
21Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy
22Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy
23Department of Clinical Neurosciences and Cambridge University Hospitals NHS Trust and Medical Research Council Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, UK
24Sunnybrook Health Sciences Centre, Sunnybrook Research Institute, University of Toronto, Toronto, Canada
25Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Canada
26Department of Clinical Neurological Sciences, University of Western Ontario, London, Canada
27Laboratory for Cognitive Neurology, Department of Neurosciences, KU Leuven, Leuven, Belgium
28Neurology Service, University Hospitals Leuven, Leuven, Belgium
29Leuven Brain Institute, KU Leuven, Leuven, Belgium
30Faculty of Medicine, University of Lisbon, Lisbon, Portugal
31Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
32Nuffield Department of Clinical Neurosciences, Medical Sciences Division, University of Oxford, Oxford, UK
33Department of Brain Sciences, Imperial College London, London, UK
34Neurology Service, Faculty of Medicine, University Hospital of Coimbra (HUC), University of Coimbra, Coimbra, Portugal
35Center for Neuroscience and Cell Biology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal
36Division of Neuroscience and Experimental Psychology, Wolfson Molecular Imaging Centre, University of Manchester, Manchester, UK
37Departments of Geriatric Medicine and Nuclear Medicine, University of Duisburg-Essen, Essen, Germany
38Cerebral Function Unit, Manchester Centre for Clinical Neurosciences, Salford Royal NHS Foundation Trust, Salford, UK
39Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France
40Centre de Référence Des Démences Rares Ou Précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France
41Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France
42Univ Lille, Lille, France
43Lille – France
44CHU, CNR-MAJ, Labex Distalz, LiCEND Lille, Lille, France
45Douglas Mental Health University Institute, Department of Psychiatry, McGill University, Montreal, Canada
46McConnell Brain Imaging Centre, Montreal Neurological Institute, Department of Neurology & Neurosurgery, McGill University, Montreal, Canada
47Neurologische Klinik Und Poliklinik, Ludwig-Maximilians-Universität, Munich, Germany
48Center for Neurodegenerative Diseases (DZNE), Munich, Germany
49Munich Cluster of Systems Neurology, Munich, Germany
50Department of NEUROFARBA, University of Florence, Florence, Italy
51IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy
52Department of Neurology, University of Ulm, Ulm, Germany

Tóm tắt

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. 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. 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). The proposed MCBMI criteria showed very good classification accuracy for identifying the prodromal stage of FTD.

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