1. Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort
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Rachelle Shafei, Benjamin Bender, Jackie M. Poos, Maria Carmela Tartaglia, Janne M. Papma, Lieke H.H. Meeter, Isabel Santana, Christen Shoesmith, Mikel Tainta, Simon Mead, Albert Lladó, Alazne Gabilondo, Emanuela Rotondo, Alexander Gerhard, Simon Ducharme, Myriam Barandiaran, Mario Masellis, Caroline V. Greaves, Jaume Olives, Rita Guerreiro, Andrea Arighi, Diana Duro NPsych, Sara Mitchell, Roberto Gasparotti, Mathieu Vandenbulcke, Tobias Langheinrich, Thomas E. Cope, Martina Bocchetta, Robart Bartha, Daid Tang-Wai, Jessica L. Panman, Maria Rosário Almeida, Christopher C Butler, Rose Bruffaerts, Núria Bargalló, Pietro Tiraboschi, Beatriz Santiago, Elisabeth Wlasich, Philip Vandamme, Giorgio Giaccone, Sergi Borrego-Écija, Sonja Schönecker, Robert Laforce, Paola Caroppo, Katrina M. Moore, Ione O.C. Woollacott, Maria de Arriba, Veronica Redaelli, Rick van Minkelen, Jorge Villanua, Sónia Afonso, Matthis Synofzik, Nick C. Fox, Jennifer M. Nicholas, David L. Thomas, James B. Rowe, Carlo Wilke, Miren Zulaica, Pedro Rosa-Neto, Jonathan D. Rohrer, Elizabeth Finger, Carolyn Timberlake, C. Ferreira, David M. Cash, Timothy Rittman, Alessandro Padovani, Barbara Borroni, Ricardo Taipa, John C. van Swieten, Sandra V. Loosli, Begoña Indakoetxea, Daniela Galimberti, Sandra E. Black, Ana Gorostidi, Vesna Jelic, Catharina Prix, Ron Keren, Y.A.L. Pijnenburg, Michele Veldsman, Rosa Rademakers, Adrian Danek, Zigor Diaz, Miguel Tábuas-Pereira, Johannes Levin, Raquel Sánchez-Valle, Jose Bras, Rhian S Convery, Silvana Archetti, Markus Otto, Miguel Castelo-Branco, Rik Vandenberghe, Anna Antonell, Fabrizio Tagliavini, Sarah Anderl-Straub, Giuseppe Di Fede, Martin N. Rossor, Carolina Maruta MPsych, Enrico Premi, Giorgio G. Fumagalli, Sara Prioni, Cristina Muscio, Maria João Leitão, Lucy L. Russell, Håkan Thonberg, Ana Verdelho, Gabriel Miltenberger, Ekaterina Rogaeva, Giacomina Rossi, Linn Öijerstedt, Christin Andersson, Caroline Graff, Serge Gauthier, Maura Cosseddu MPsych, Carolin Heller, Stefano Gazzina, Jason D. Warren, Chiara Fenoglio, Tobias Hoegen, Elio Scarpini, Morris Freedman, Fermin Moreno, Mircea Balasa, Lize C. Jiskoot, Alexandre de Mendonça, Paul Thompson, Elisa Semler, Hans-Otto Karnarth, Amsterdam Neuroscience - Neurodegeneration, Neurology, Clinical Genetics, and Repositório da Universidade de Lisboa
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Social Cognition ,C9orf72 ,Emotion processing ,Facial emotion recognition ,Faux pas ,Frontotemporal dementia ,MAPT ,Progranulin ,Theory of mind ,1702 Cognitive Sciences ,Medizin ,Social Sciences ,Audiology ,DISEASE ,Behavioural Neurology ,genetics [Progranulins] ,0302 clinical medicine ,Progranulins ,Psychology ,genetics [Frontotemporal Dementia] ,Faux pa ,Psychology, Experimental ,NEUROANATOMY ,05 social sciences ,Genetic FTD Initiative, GENFI ,Experimental Psychology ,MIND ,Magnetic Resonance Imaging ,ORBITOFRONTAL CORTEX ,Neuropsychology and Physiological Psychology ,Frontal lobe ,Frontotemporal Dementia ,Life Sciences & Biomedicine ,Behavioral Sciences ,medicine.medical_specialty ,Cognitive Neuroscience ,FRONTAL VARIANT ,Experimental and Cognitive Psychology ,050105 experimental psychology ,Lateralization of brain function ,Temporal lobe ,03 medical and health sciences ,AGE ,Social cognition ,mental disorders ,medicine ,Humans ,0501 psychology and cognitive sciences ,ddc:610 ,genetics [C9orf72 Protein] ,DECLINE ,Science & Technology ,EMOTION RECOGNITION ,C9orf72 Protein ,Neurosciences ,PERFORMANCE ,medicine.disease ,Facial emotion recognitions ,1701 Psychology ,Mutation ,Orbitofrontal cortex ,Neurosciences & Neurology ,GENDER ,1109 Neurosciences ,Insula ,030217 neurology & neurosurgery - Abstract
© 2020 The Author(s). Published by Elsevier Ltd. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/)., A key symptom of frontotemporal dementia (FTD) is difficulty interacting socially with others. Social cognition problems in FTD include impaired emotion processing and theory of mind difficulties, and whilst these have been studied extensively in sporadic FTD, few studies have investigated them in familial FTD. Facial Emotion Recognition (FER) and Faux Pas (FP) recognition tests were used to study social cognition within the Genetic Frontotemporal Dementia Initiative (GENFI), a large familial FTD cohort of C9orf72, GRN, and MAPT mutation carriers. 627 participants undertook at least one of the tasks, and were separated into mutation-negative healthy controls, presymptomatic mutation carriers (split into early and late groups) and symptomatic mutation carriers. Groups were compared using a linear regression model with bootstrapping, adjusting for age, sex, education, and for the FP recognition test, language. Neural correlates of social cognition deficits were explored using a voxel-based morphometry (VBM) study. All three of the symptomatic genetic groups were impaired on both tasks with no significant difference between them. However, prior to onset, only the late presymptomatic C9orf72 mutation carriers on the FER test were impaired compared to the control group, with a subanalysis showing differences particularly in fear and sadness. The VBM analysis revealed that impaired social cognition was mainly associated with a left hemisphere predominant network of regions involving particularly the striatum, orbitofrontal cortex and insula, and to a lesser extent the inferomedial temporal lobe and other areas of the frontal lobe. In conclusion, theory of mind and emotion processing abilities are impaired in familial FTD, with early changes occurring prior to symptom onset in C9orf72 presymptomatic mutation carriers. Future work should investigate how performance changes over time, in order to gain a clearer insight into social cognitive impairment over the course of the disease.
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- 2020