Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort

• Autor(es): Russell, Lucy L. ; Greaves, Caroline V. ; Bocchetta, Martina ; Nicholas, Jennifer ; Convery, Rhian S. ; Moore, Katrina ; Cash, David M. ; van Swieten, John ; Jiskoot, Lize ; Moreno, Fermin ; Sanchez-Valle, Raquel ; Borroni, Barbara ; Laforce, Robert ; Masellis, Mario ; Tartaglia, Maria Carmela ; Graff, Caroline ; Rotondo, Emanuela ; Galimberti, Daniela ; Rowe, James B. ; Finger, Elizabeth ; Synofzik, Matthis ; Vandenberghe, Rik ; de Mendonça, Alexandre ; Tagliavini, Fabrizio ; Santana, Isabel ; Ducharme, Simon ; Butler, Chris ; Gerhard, Alex ; Levin, Johannes ; Danek, Adrian ; Otto, Markus ; Warren, Jason D. ; Rohrer, Jonathan D. ; Rossor, Martin N. ; Fox, Nick C. ; Woollacott, Ione O.C. ; Shafei, Rachelle ; Heller, Carolin ; Guerreiro, Rita ; Bras, Jose ; Thomas, David L. ; Mead, Simon ; Meeter, Lieke ; Panman, Jessica ; Papma, Janne ; Poos, Jackie ; van Minkelen, Rick ; Pijnenburg, Yolanda ; Barandiaran, Myriam ; Indakoetxea, Begoña ; Gabilondo, Alazne ; Tainta, Mikel ; de Arriba, Maria ; Gorostidi, Ana ; Zulaica, Miren ; Villanua, Jorge ; Diaz, Zigor ; Borrego-Ecija, Sergi ; Olives, Jaume ; Lladó, Albert ; Balasa, Mircea ; Antonell, Anna ; Bargallo, Nuria ; Premi, Enrico ; Cosseddu MPsych, Maura ; Gazzina, Stefano ; Padovani, Alessandro ; Gasparotti, Roberto ; Archetti, Silvana ; Black, Sandra ; Mitchell, Sara ; Rogaeva, Ekaterina ; Freedman, Morris ; Keren, Ron ; Tang-Wai, Daid ; Öijerstedt, Linn ; Andersson, Christin ; Jelic, Vesna ; Thonberg, Hakan ; Arighi, Andrea ; Fenoglio, Chiara ; Scarpini, Elio ; Fumagalli, Giorgio ; Cope, Thomas ; Timberlake, Carolyn ; Rittman, Timothy ; Shoesmith, Christen ; Bartha, Robart ; Rademakers, Rosa ; Wilke, Carlo ; Karnarth, Hans-Otto ; Bender, Benjamin ; Bruffaerts, Rose ; Vandamme, Philip ; Vandenbulcke, Mathieu ; Ferreira, Catarina B. ; Miltenberger, Gabriel ; Maruta MPsych, Carolina ; Verdelho, Ana ; Afonso, Sónia ; Taipa, Ricardo ; Caroppo, Paola ; Di Fede, Giuseppe ; Giaccone, Giorgio ; Muscio, Cristina ; Prioni, Sara ; Redaelli, Veronica ; Rossi, Giacomina ; Tiraboschi, Pietro ; Duro NPsych, Diana ; Almeida, Maria R. ; Castelo-Branco, Miguel ; Leitão, Maria J. ; Tabuas-Pereira, Miguel ; Santiago, Beatriz ; Gauthier, Serge ; Rosa-Neto, Pedro ; Veldsman, Michele ; Thompson, Paul ; Langheinrich, Tobias ; Prix, Catharina ; Hoegen, Tobias ; Wlasich, Elisabeth ; Loosli, Sandra ; Schonecker, Sonja ; Semler, Elisa ; Anderl-Straub, Sarah
• Data: 2020
• Identificador Persistente: http://hdl.handle.net/10400.16/2581
• Origem: Repositório Científico da Unidade Local de Saúde de Santo António (ULSSA)
• Assunto(s): C9orf72; Emotion processing; Facial emotion recognitions; Faux pa; Frontotemporal dementia; MAPT; Progranulin; Theory of mind
• Tipo de Documento: Artigo científico
• Idioma: Inglês
• Contribuidor(es): Repositório Científico da Unidade Local de Saúde de Santo António

Descrição

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.