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  • Title: Frequency and Longitudinal Course of Behavioral and Neuropsychiatric Symptoms in Participants With Genetic Frontotemporal Dementia.
    Author: Schönecker S, Martinez-Murcia FJ, Denecke J, Franzmeier N, Danek A, Wagemann O, Prix C, Wlasich E, Vöglein J, Loosli SV, Brauer A, Górriz Sáez JM, Bouzigues A, Russell LL, Foster PH, Ferry-Bolder E, van Swieten JC, Jiskoot LC, Seelaar H, Sanchez-Valle R, Laforce R, Graff C, Galimberti D, Vandenberghe R, de Mendonça A, Tiraboschi P, Santana I, Gerhard A, Sorbi S, Otto M, Pasquier F, Ducharme S, Butler C, Le Ber I, Finger E, Tartaglia MC, Masellis M, Rowe JB, Synofzik M, Moreno F, Borroni B, Rohrer JD, Genetic Frontotemporal Dementia Initiative (GENFI)From the Department of Neurology (S. Schönecker, A.D., O.W., C.P., E.W., J.V., S.V.L., A. Brauer, G.U.H., J.L.), LMU University Hospital, LMU Munich, Germany; Department of Signal Theory Networking and Communications (F.J.M.-M., J.-M.G.S.), Andalusian Research Institute in Data Science and Computational Intelligence (DasCI), University of Granada, Spain; Institute for Stroke and Dementia Research (J.D., N.F.), LMU University Hospital, LMU Munich; Munich Cluster for Systems Neurology (SyNergy) (N.F., G.U.H., J.L.), Germany; Institute of Neuroscience and Physiology and Department of Psychiatry and Neurochemistry (N.F.), The Sahlgrenska Academy, University of Gothenburg, Mölndal and Gothenburg, Sweden; German Center for Neurodegenerative Diseases (DZNE) (J.V., G.U.H., J.L.), Munich, Germany; Dementia Research Centre (A. Bouzigues, L.L.R., P.H.F., E.F.-B., J.D.R.), Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (J.C.v.S., L.C.J., H.S.), Erasmus Medical Centre, Rotterdam, the Netherlands; Alzheimer's disease and Other Cognitive Disorders Unit (R.S.-V.), Neurology Service, Hospital Clínic, Institut d'Investigacións Biomèdiques August Pi I Sunyer, University of Barcelona, Spain; Clinique Interdisciplinaire de Mémoire (R.L.), Département des Sciences Neurologiques, CHU de Québec, and Faculté de Médecine, Université Laval, Canada; Department of Neurobiology, Care Sciences and Society (C.G.), Center for Alzheimer Research, Division of Neurogeriatrics, Bioclinium, Karolinska Institutet; Unit for Hereditary Dementias (C.G.), Theme Inflammation and Aging, Karolinska University Hospital, Solna, Sweden; Fondazione Ca' Granda (D.G.), IRCCS Ospedale Policlinico, Milan; Centro Dino Ferrari (D.G.), University of Milan, Italy; Laboratory for Cognitive Neurology (R.V.), Department of Neurosciences, KU Leuven; Neurology Service (R.V.), University Hospitals Leuven; Leuven Brain Institute (R.V.), KU Leuven, Belgium; Faculty of Medicine (A.d.M.), University of Lisbon, Portugal; Fondazione IRCCS Istituto Neurologico Carlo Besta (P.T.), Milano, Italy; University Hospital of Coimbra (HUC) (I.S.), Neurology Service, Faculty of Medicine, and Center for Neuroscience and Cell Biology (I.S.), Faculty of Medicine, University of Coimbra, Portugal; Division of Psychology Communication and Human Neuroscience Wolfson Molecular Imaging Centre (A.G.), University of Manchester, United Kingdom; Department of Nuclear Medicine (A.G.), Center for Translational Neuro- and Behavioral Sciences, University Medicine Essen; Department of Geriatric Medicine (A.G.), Klinikum Hochsauerland, Arnsberg, Germany; Department of Neurofarba (S. Sorbi), University of Florence; IRCCS Fondazione Don Carlo Gnocchi (S. Sorbi), Florence, Italy; Department of Neurology (M.O.), University of Ulm, Germany; Univ Lille (F.P.); Inserm 1172 (F.P.), Lille; CHU (F.P.), CNR-MAJ, Labex Distalz, LiCEND Lille, France; Department of Psychiatry (S.D.), McGill University Health Centre, and McConnell Brain Imaging Centre (S.D.), Montreal Neurological Institute, McGill University, Montreal, Québec, Canada; Nuffield Department of Clinical Neurosciences (C.B.), Medical Sciences Division, University of Oxford; Department of Brain Sciences (C.B.), Imperial College London, United Kingdom; Sorbonne Université (I.L.B.), Paris Brain Institute, Institut du Cerveau, ICM, Inserm U1127, CNRS UMR 7225, Centre de Référence des Démences Rares ou Précoces (I.L.B.), IM2A, and Département de Neurologie (I.L.B.), AP-HP, Hôpital Pitié-Salpêtrière, Paris, France; Department of Clinical Neurological Sciences (E.F.), University of Western Ontario, London; Tanz Centre for Research in Neurodegenerative Diseases (M.C.T.), and Sunnybrook Health Sciences Centre (M.M.), Sunnybrook Research Institute, University of Toronto, Ontario, Canada; Department of Clinical Neurosciences (J.B.R.), MRC Cognition and Brain Sciences Unit, and Cambridge University Hospitals NHS Trust, University of Cambridge, United Kingdom; Department of Neurodegenerative Diseases (M.S.), Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen; Center for Neurodegenerative Diseases (DZNE) (M.S.), Tübingen, Germany; Cognitive Disorders Unit (F.M.), Department of Neurology, Donostia Universitary Hospital; Neuroscience Area (F.M.), Biodonostia Health Research Institute, San Sebastian, Gipuzkoa, Spain; Neurology Unit (B.B.), Department of Clinical and Experimental Sciences, University of Brescia, Italy; and Department of Psychiatry and Psychotherapy (J.P.), Technical University Munich, Germany., Priller J, Höglinger GU, Levin J.
    Journal: Neurology; 2024 Oct 22; 103(8):e209569. PubMed ID: 39284109.
    Abstract:
    BACKGROUND AND OBJECTIVES: Behavioral and neuropsychiatric symptoms are frequent in patients with genetic frontotemporal dementia (FTD). We aimed to describe behavioral and neuropsychiatric phenotypes in genetic FTD, quantify their temporal association, and investigate their regional association with brain atrophy. METHODS: We analyzed data of pathogenic variant carriers in the chromosome 9 open reading frame 72 (c9orf72), progranulin (GRN), or microtubule-associated protein tau (MAPT) gene from the Genetic Frontotemporal dementia Initiative cohort study that enrolls both symptomatic pathogenic variant carriers and first-degree relatives of known carriers. Principal component analysis was performed to identify behavioral and neuropsychiatric clusters that were compared with respect to frequency and severity between groups. Associations between neuropsychiatric clusters and MRI-assessed atrophy were determined using voxel-based morphometry. We applied linear mixed effects and generalized linear mixed effects models to assess the longitudinal course of symptoms. RESULTS: A total of 522 participants were included: 221 c9orf72 (138 presymptomatic), 213 GRN (157 presymptomatic), and 88 MAPT (62 presymptomatic) pathogenic variant carriers. Principal component analysis revealed 5 phenotypic clusters (67.6% of variance), labeled diverse behavioral, affective, psychotic, euphoric/hypersexual, and tactile hallucinations phenotype. In participants presenting behavioral or neuropsychiatric symptoms, affective symptoms were most frequent across groups (83.6%-88.1%), followed by diverse behavioral symptoms (68.4%-77.9%). In c9orf72 and GRN pathogenic variant carriers, psychotic symptoms (32.0% and 19.4%, respectively) were more frequent than euphoric/hypersexual symptoms (28.7% and 14.2%, respectively), which was the other way around in MAPT pathogenic variant carriers (28.6% and 23.8%). Although diverse behavioral symptoms were associated with gray and white matter frontotemporal atrophy, only a small atrophy cluster in the right thalamus was associated with psychotic symptoms. Euphoric/hypersexual symptoms were associated with atrophy in mesial temporal lobes, basal forebrain structures, and the striatum (p < 0.05). Estimated time to symptom onset, genetic group, education, and sex influenced behavioral and neuropsychiatric symptoms (p < 0.05). Particularly, in c9orf72 pathogenic variant carriers, psychotic symptoms may be starting decades before recognition of onset of illness. DISCUSSION: We identified multiple clusters of behavioral and neuropsychiatric symptoms in participants with genetic FTD that relate to distinct cerebral atrophy patterns. Their severity depends on time, affected gene, sex, and education. These clinical-genetic associations can guide diagnostic evaluations and the design of clinical trials for new disease-modifying and preventive treatments.
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