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Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort

dc.contributor.authorRussell, Lucy L.
dc.contributor.authorGreaves, Caroline V.
dc.contributor.authorBocchetta, Martina
dc.contributor.authorNicholas, Jennifer
dc.contributor.authorConvery, Rhian S.
dc.contributor.authorMoore, Katrina
dc.contributor.authorCash, David M.
dc.contributor.authorvan Swieten, John
dc.contributor.authorJiskoot, Lize
dc.contributor.authorMoreno, Fermin
dc.contributor.authorSanchez-Valle, Raquel
dc.contributor.authorScarpini, Elio
dc.contributor.authorFumagalli, Giorgio
dc.contributor.authorTaipa, Ricardo
dc.contributor.authorCope, Thomas
dc.contributor.authorTimberlake, Carolyn
dc.contributor.authorRittman, Timothy
dc.contributor.authorShoesmith, Christen
dc.contributor.authorBartha, Robart
dc.contributor.authorRademakers, Rosa
dc.contributor.authorWilke, Carlo
dc.contributor.authorTiraboschi, Pietro
dc.contributor.authorKarnarth, Hans-Otto
dc.contributor.authorBender, Benjamin
dc.contributor.authorBruffaerts, Rose
dc.contributor.authorCaroppo, Paola
dc.contributor.authorVandamme, Philip
dc.contributor.authorVandenbulcke, Mathieu
dc.contributor.authorFerreira, Catarina B.
dc.contributor.authorMiltenberger-Miltenyi, Gabriel
dc.contributor.authorMaruta, Carolina
dc.contributor.authorVerdelho, Ana
dc.contributor.authorDuro NPsych, Diana
dc.contributor.authorAfonso, Sónia
dc.contributor.authorDi Fede, Giuseppe
dc.contributor.authorGiaccone, Giorgio
dc.contributor.authorMuscio, Cristina
dc.contributor.authorPrioni, Sara
dc.contributor.authorRedaelli, Veronica
dc.contributor.authorRossi, Giacomina
dc.contributor.authorBorroni, Barbara
dc.contributor.authorAlmeida, Maria R.
dc.contributor.authorCastelo-Branco, Miguel
dc.contributor.authorLeitão, Maria J.
dc.contributor.authorTabuas-Pereira, Miguel
dc.contributor.authorSantiago, Beatriz
dc.contributor.authorGauthier, Serge
dc.contributor.authorRosa-Neto, Pedro
dc.contributor.authorFinger, Elizabeth
dc.contributor.authorVeldsman, Michele
dc.contributor.authorThompson, Paul
dc.contributor.authorLangheinrich, Tobias
dc.contributor.authorLaforce, Robert
dc.contributor.authorPrix, Catharina
dc.contributor.authorHoegen, Tobias
dc.contributor.authorWlasich, Elisabeth
dc.contributor.authorLoosli, Sandra
dc.contributor.authorSchonecker, Sonja
dc.contributor.authorSemler, Elisa
dc.contributor.authorSynofzik, Matthis
dc.contributor.authorAnderl-Straub, Sarah
dc.contributor.authorMasellis, Mario
dc.contributor.authorTartaglia, Maria Carmela
dc.contributor.authorGraff, Caroline
dc.contributor.authorRotondo, Emanuela
dc.contributor.authorGalimberti, Daniela
dc.contributor.authorRowe, James B.
dc.contributor.authorVandenberghe, Rik
dc.contributor.authorDe Mendonça, Alexandre
dc.contributor.authorTagliavini, Fabrizio
dc.contributor.authorSantana, Isabel
dc.contributor.authorDucharme, Simon
dc.contributor.authorButler, Chris
dc.contributor.authorGerhard, Alex
dc.contributor.authorLevin, Johannes
dc.contributor.authorvan Minkelen, Rick
dc.contributor.authorDanek, Adrian
dc.contributor.authorOtto, Markus
dc.contributor.authorWarren, Jason D.
dc.contributor.authorRohrer, Jonathan D.
dc.contributor.authorRossor, Martin N.
dc.contributor.authorFox, Nick C.
dc.contributor.authorWoollacott, Ione O.C.
dc.contributor.authorShafei, Rachelle
dc.contributor.authorHeller, Carolin
dc.contributor.authorGuerreiro, Rita
dc.contributor.authorPijnenburg, Yolanda
dc.contributor.authorBras, Jose
dc.contributor.authorThomas, David L.
dc.contributor.authorMead, Simon
dc.contributor.authorMeeter, Lieke
dc.contributor.authorPanman, Jessica
dc.contributor.authorPapma, Janne
dc.contributor.authorPoos, Jackie
dc.contributor.authorBarandiaran, Myriam
dc.contributor.authorIndakoetxea, Begoña
dc.contributor.authorGabilondo, Alazne
dc.contributor.authorTainta, Mikel
dc.contributor.authorde Arriba, Maria
dc.contributor.authorGorostidi, Ana
dc.contributor.authorZulaica, Miren
dc.contributor.authorVillanua, Jorge
dc.contributor.authorKeren, Ron
dc.contributor.authorDiaz, Zigor
dc.contributor.authorBorrego-Ecija, Sergi
dc.contributor.authorOlives, Jaume
dc.contributor.authorLladó, Albert
dc.contributor.authorBalasa, Mircea
dc.contributor.authorAntonell, Anna
dc.contributor.authorBargallo, Nuria
dc.contributor.authorPremi, Enrico
dc.contributor.authorCosseddu MPsych, Maura
dc.contributor.authorGazzina, Stefano
dc.contributor.authorTang-Wai, Daid
dc.contributor.authorPadovani, Alessandro
dc.contributor.authorGasparotti, Roberto
dc.contributor.authorArchetti, Silvana
dc.contributor.authorBlack, Sandra
dc.contributor.authorMitchell, Sara
dc.contributor.authorRogaeva, Ekaterina
dc.contributor.authorFreedman, Morris
dc.contributor.authorÖijerstedt, Linn
dc.contributor.authorAndersson, Christin
dc.contributor.authorJelic, Vesna
dc.contributor.authorThonberg, Hakan
dc.contributor.authorArighi, Andrea
dc.contributor.authorFenoglio, Chiara
dc.date.accessioned2021-02-11T13:53:40Z
dc.date.available2021-02-11T13:53:40Z
dc.date.issued2020
dc.description© 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/).pt_PT
dc.description.abstractA 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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationCortex. 2020 Dec;133:384-398pt_PT
dc.identifier.doi10.1016/j.cortex.2020.08.023pt_PT
dc.identifier.eissn1973-8102
dc.identifier.issn0010-9452
dc.identifier.urihttp://hdl.handle.net/10451/46285
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.relation.publisherversionhttps://www.sciencedirect.com/journal/cortexpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectFrontotemporal dementiapt_PT
dc.subjectTheory of mindpt_PT
dc.subjectEmotion processingpt_PT
dc.subjectFaux paspt_PT
dc.subjectFacial emotion recognitionpt_PT
dc.subjectC9orf72pt_PT
dc.subjectProgranulinpt_PT
dc.subjectMAPTpt_PT
dc.titleSocial cognition impairment in genetic frontotemporal dementia within the GENFI cohortpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage398pt_PT
oaire.citation.startPage384pt_PT
oaire.citation.titleCortexpt_PT
oaire.citation.volume133pt_PT
person.familyNameMiltenberger-Miltenyi
person.familyNameMaruta
person.familyNameVerdelho
person.familyNamede Mendonça
person.givenNameGabriel
person.givenNameCarolina
person.givenNameAna
person.givenNameAlexandre
person.identifier.ciencia-idAE16-3A8D-0392
person.identifier.ciencia-id4B1D-5F59-6221
person.identifier.ciencia-idFC14-938F-EBBD
person.identifier.ciencia-id1615-41B4-0848
person.identifier.orcid0000-0003-0224-1281
person.identifier.orcid0000-0003-3359-379X
person.identifier.orcid0000-0003-4945-4946
person.identifier.orcid0000-0002-0488-1453
person.identifier.scopus-author-id35327513800
person.identifier.scopus-author-id6602902026
person.identifier.scopus-author-id7003320823
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication58c7f5b7-9f9d-42b6-9b39-c53dd40a79c7
relation.isAuthorOfPublication4a8bdaf9-480a-4836-ac4b-c80c3b4e0391
relation.isAuthorOfPublication11ec545d-3044-4ffd-b658-578d00f82d2a
relation.isAuthorOfPublication53ca3547-99ce-4b68-9330-7879a54c47b7
relation.isAuthorOfPublication.latestForDiscovery58c7f5b7-9f9d-42b6-9b39-c53dd40a79c7

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