Logo do repositório
 
Publicação

Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations

2022Artigo científico Acesso aberto
Ver registo simples
dc.contributor.authorBouzigues, Arabella
dc.contributor.authorRussell, Lucy L.
dc.contributor.authorPeakman, Georgia
dc.contributor.authorBocchetta, Martina
dc.contributor.authorGreaves, Caroline V.
dc.contributor.authorConvery, Rhian S.
dc.contributor.authorTodd, Emily
dc.contributor.authorRowe, James B.
dc.contributor.authorBorroni, Barbara
dc.contributor.authorGalimberti, Daniela
dc.contributor.authorTiraboschi, Pietro
dc.contributor.authorZetterberg, Henrik
dc.contributor.authorJiskoot, Lize
dc.contributor.authorSorbi, Sandro
dc.contributor.authorButler, Chris R.
dc.contributor.authorGraff, Caroline
dc.contributor.authorGerhard, Alexander
dc.contributor.authorLangheinrich, Tobias
dc.contributor.authorLaforce, Robert
dc.contributor.authorSanchez-Valle, Raquel
dc.contributor.authorDe Mendonça, Alexandre
dc.contributor.authorBalasa, Mircea
dc.contributor.authorMoreno, Fermin
dc.contributor.authorSwift, Imogen J
dc.contributor.authorSynofzik, Matthis
dc.contributor.authorVandenberghe, Rik
dc.contributor.authorDucharme, Simon
dc.contributor.authorLe Ber, Isabelle
dc.contributor.authorLevin, Johannes
dc.contributor.authorDanek, Adrian
dc.contributor.authorOtto, Markus
dc.contributor.authorPasquier, Florence
dc.contributor.authorTang-Wai, David
dc.contributor.authorSantana, Isabel
dc.contributor.authorRohrer, Jonathan D.
dc.contributor.authorNicholas, Jennifer
dc.contributor.authorEsteve, Aitana Sogorb
dc.contributor.authorNelson, Annabel
dc.contributor.authorBouzigues, Arabella
dc.contributor.authorHeller, Carolin
dc.contributor.authorGreaves, Caroline V
dc.contributor.authorCash, David
dc.contributor.authorThomas, David L
dc.contributor.authorRogaeva, Ekaterina
dc.contributor.authorSamra, Kiran
dc.contributor.authorRussell, Lucy L
dc.contributor.authorBocchetta, Martina
dc.contributor.authorShafei, Rachelle
dc.contributor.authorConvery, Rhian S
dc.contributor.authorAntonell, Anna
dc.contributor.authorTimberlake, Carolyn
dc.contributor.authorCope, Thomas
dc.contributor.authorRittman, Timothy
dc.contributor.authorBenussi, Alberto
dc.contributor.authorCastelo-Branco, Miguel
dc.contributor.authorPremi, Enrico
dc.contributor.authorGasparotti, Roberto
dc.contributor.authorArchetti, Silvana
dc.contributor.authorGazzina, Stefano
dc.contributor.authorCantoni, Valentina
dc.contributor.authorArighi, Andrea
dc.contributor.authorOlives, Jaume
dc.contributor.authorFenoglio, Chiara
dc.contributor.authorScarpini, Elio
dc.contributor.authorFumagalli, Giorgio
dc.contributor.authorKeren, Ron
dc.contributor.authorBorracci, Vittoria
dc.contributor.authorRossi, Giacomina
dc.contributor.authorGiaccone, Giorgio
dc.contributor.authorCaroppo, Paola
dc.contributor.authorTiraboschi, Pietro
dc.contributor.authorPrioni, Sara
dc.contributor.authorRedaelli, Veronica
dc.contributor.authorBlack, Sandra
dc.contributor.authorMitchell, Sara
dc.contributor.authorShoesmith, Christen
dc.contributor.authorBartha, Robart
dc.contributor.authorRademakers, Rosa
dc.contributor.authorFinger, Elizabeth
dc.contributor.authorPoos, Jackie
dc.contributor.authorBargalló, Nuria
dc.contributor.authorPapma, Janne M
dc.contributor.authorGiannini, Lucia
dc.contributor.authorMinkelen, Rick
dc.contributor.authorPijnenburg, Yolande
dc.contributor.authorNacmias, Benedetta
dc.contributor.authorFerrari, Camilla
dc.contributor.authorPolito, Cristina
dc.contributor.authorLombardi, Gemma
dc.contributor.authorBertrand, Anne
dc.contributor.authorBessi, Valentina
dc.contributor.authorVeldsman, Michele
dc.contributor.authorBorrego-Ecija, Sergi
dc.contributor.authorAndersson, Christin
dc.contributor.authorThonberg, Hakan
dc.contributor.authorÖijerstedt, Linn
dc.contributor.authorJelic, Vesna
dc.contributor.authorThompson, Paul
dc.contributor.authorLangheinrich, Tobias
dc.contributor.authorLladó, Albert
dc.contributor.authorFunkiewiez, Aurélie
dc.contributor.authorVerdelho, Ana
dc.contributor.authorMaruta, Carolina
dc.contributor.authorFerreira, Catarina B.
dc.contributor.authorMiltenberger-Miltenyi, Gabriel
dc.contributor.authorSimões Do Couto, Frederico
dc.contributor.authorMasellis, Mario
dc.contributor.authorGabilondo, Alazne
dc.contributor.authorGorostidi, Ana
dc.contributor.authorVillanua, Jorge
dc.contributor.authorCañada, Marta
dc.contributor.authorRinaldi, Daisy
dc.contributor.authorTainta, Mikel
dc.contributor.authorZulaica, Miren
dc.contributor.authorBarandiaran, Myriam
dc.contributor.authorAlves, Patricia
dc.contributor.authorBender, Benjamin
dc.contributor.authorWilke, Carlo
dc.contributor.authorTartaglia, Maria Carmela
dc.contributor.authorGraf, Lisa
dc.contributor.authorVogels, Annick
dc.contributor.authorVandenbulcke, Mathieu
dc.contributor.authorSaracino, Dario
dc.contributor.authorVan Damme, Philip
dc.contributor.authorBruffaerts, Rose
dc.contributor.authorPoesen, Koen
dc.contributor.authorRosa-Neto, Pedro
dc.contributor.authorGauthier, Serge
dc.contributor.authorCamuzat, Agnès
dc.contributor.authorBrice, Alexis
dc.contributor.authorColliot, Olivier
dc.contributor.authorSayah, Sabrina
dc.contributor.authorPrix, Catharina
dc.contributor.authorWlasich, Elisabeth
dc.contributor.authorWagemann, Olivia
dc.contributor.authorTodd, Emily
dc.contributor.authorLoosli, Sandra
dc.contributor.authorvan Swieten, John C.
dc.contributor.authorSchönecker, Sonja
dc.contributor.authorHoegen, Tobias
dc.contributor.authorLombardi, Jolina
dc.contributor.authorAnderl-Straub, Sarah
dc.contributor.authorRollin, Adeline
dc.contributor.authorKuchcinski, Gregory
dc.contributor.authorBertoux, Maxime
dc.contributor.authorLebouvier, Thibaud
dc.contributor.authorBenotmane, Hanya
dc.contributor.authorDeramecourt, Vincent
dc.contributor.authorSantiago, Beatriz
dc.contributor.authorSeelaar, Harro
dc.contributor.authorDuro, Diana
dc.contributor.authorLeitão, Maria João
dc.contributor.authorAlmeida, Maria Rosario
dc.contributor.authorTábuas-Pereira, Miguel
dc.contributor.authorAfonso, Sónia
dc.contributor.authorEngel, Annerose
dc.contributor.authorPolyakova, Maryna
dc.date.accessioned2022-04-05T13:33:22Z
dc.date.available2022-04-05T13:33:22Z
dc.date.issued2022
dc.description© The Author(s) 2022. Springer Nature Switzerland AG. Part of Springer Nature. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.pt_PT
dc.description.abstractIntroduction: A third of frontotemporal dementia (FTD) is caused by an autosomal-dominant genetic mutation in one of three genes: microtubule-associated protein tau (MAPT), chromosome 9 open reading frame 72 (C9orf72) and progranulin (GRN). Prior studies of prodromal FTD have identified impaired executive function and social cognition early in the disease but few have studied naming in detail. Methods: We investigated performance on the Boston Naming Test (BNT) in the GENetic Frontotemporal dementia Initiative cohort of 499 mutation carriers and 248 mutation-negative controls divided across three genetic groups: C9orf72, MAPT and GRN. Mutation carriers were further divided into 3 groups according to their global CDR plus NACC FTLD score: 0 (asymptomatic), 0.5 (prodromal) and 1 + (fully symptomatic). Groups were compared using a bootstrapped linear regression model, adjusting for age, sex, language and education. Finally, we identified neural correlates of anomia within carriers of each genetic group using a voxel-based morphometry analysis. Results: All symptomatic groups performed worse on the BNT than controls with the MAPT symptomatic group scoring the worst. Furthermore, MAPT asymptomatic and prodromal groups performed significantly worse than controls. Correlates of anomia in MAPT mutation carriers included bilateral anterior temporal lobe regions and the anterior insula. Similar bilateral anterior temporal lobe involvement was seen in C9orf72 mutation carriers as well as more widespread left frontal atrophy. In GRN mutation carriers, neural correlates were limited to the left hemisphere, and involved frontal, temporal, insula and striatal regions. Conclusion: This study suggests the development of early anomia in MAPT mutation carriers, likely to be associated with impaired semantic knowledge. Clinical trials focused on the prodromal period within individuals with MAPT mutations should use language tasks, such as the BNT for patient stratification and as outcome measures.pt_PT
dc.description.sponsorshiphe Dementia Research Centre is supported by Alzheimer's Research UK, Alzheimer's Society, Brain Research UK, and The Wolfson Foundation. This work was supported by the NIHR UCL/H Biomedical Research Centre, the Leonard Wolfson Experimental Neurology Centre (LWENC) Clinical Research Facility, and the UK Dementia Research Institute, which receives its funding from UK DRI Ltd, funded by the UK Medical Research Council, Alzheimer's Society and Alzheimer's Research UK. JDR is supported by the Miriam Marks Brain Research UK Senior Fellowship and has received funding from an MRC Clinician Scientist Fellowship (MR/M008525/1) and the NIHR Rare Disease Translational Research Collaboration (BRC149/NS/MH). This work was also supported by the MRC UK GENFI grant (MR/M023664/1), the Bluefield Project and the JPND GENFI-PROX grant (2019-02248). This research was supported by the NIHR Cambridge Biomedical Research Centre (BRC-1215-20014). The views expressed are those of the authors and not necessarily those of the NIHR or the Department of Health and Social Care. MB is supported by a Fellowship award from the Alzheimer’s Society, UK (AS-JF-19a-004-517). MB’s work is also supported by the UK Dementia Research Institute which receives its funding from DRI Ltd, funded by the UK Medical Research Council, Alzheimer’s Society and Alzheimer’s Research UK. RC/CG are supported by a Frontotemporal Dementia Research Studentships in Memory of David Blechner funded through The National Brain Appeal (RCN 290173). Several authors of this publication are members of the European Reference Network for Rare Neurological Diseases—Project ID No 739510. This work was funded by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) under Germany’s Excellence Strategy within the framework of the Munich Cluster for Systems Neurology (EXC 2145 SyNergy—ID 390857198).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Neurol. 2022 Mar 29pt_PT
dc.identifier.doi10.1007/s00415-022-11068-0pt_PT
dc.identifier.eissn1432-1459
dc.identifier.issn0340-5354
dc.identifier.urihttp://hdl.handle.net/10451/52184
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringer Naturept_PT
dc.relation739510pt_PT
dc.relation.publisherversionhttps://www.springer.com/journal/415pt_PT
dc.subjectC9orf72pt_PT
dc.subjectCognitionpt_PT
dc.subjectFrontotemporal dementiapt_PT
dc.subjectNamingpt_PT
dc.subjectProgranulinpt_PT
dc.subjectTaupt_PT
dc.titleAnomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutationspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.titleJournal of Neurologypt_PT
person.familyNamede Mendonça
person.familyNameCastelo-Branco
person.familyNameVerdelho
person.familyNameMaruta
person.familyNameMiltenberger-Miltenyi
person.familyNameSimões do Couto
person.givenNameAlexandre
person.givenNameMiguel
person.givenNameAna
person.givenNameCarolina
person.givenNameGabriel
person.givenNameFrederico
person.identifier351267
person.identifier.ciencia-id1615-41B4-0848
person.identifier.ciencia-id7A12-48FE-7B56
person.identifier.ciencia-idFC14-938F-EBBD
person.identifier.ciencia-id4B1D-5F59-6221
person.identifier.ciencia-idAE16-3A8D-0392
person.identifier.ciencia-idD117-0296-8086
person.identifier.orcid0000-0002-0488-1453
person.identifier.orcid0000-0003-4364-6373
person.identifier.orcid0000-0003-4945-4946
person.identifier.orcid0000-0003-3359-379X
person.identifier.orcid0000-0003-0224-1281
person.identifier.orcid0000-0002-3916-2598
person.identifier.ridF-3866-2019
person.identifier.ridJ-9374-2017
person.identifier.scopus-author-id7003320823
person.identifier.scopus-author-id6701423628
person.identifier.scopus-author-id6602902026
person.identifier.scopus-author-id35327513800
person.identifier.scopus-author-id14621494400
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication53ca3547-99ce-4b68-9330-7879a54c47b7
relation.isAuthorOfPublication16245106-f8db-49a9-be95-8806aa05dfad
relation.isAuthorOfPublication11ec545d-3044-4ffd-b658-578d00f82d2a
relation.isAuthorOfPublication4a8bdaf9-480a-4836-ac4b-c80c3b4e0391
relation.isAuthorOfPublication58c7f5b7-9f9d-42b6-9b39-c53dd40a79c7
relation.isAuthorOfPublication88e58e2b-630a-44ef-a9c8-15a4c2f74fa7
relation.isAuthorOfPublication.latestForDiscovery88e58e2b-630a-44ef-a9c8-15a4c2f74fa7

Ficheiros

Principais
A mostrar 1 - 1 de 1
Miniatura
Nome:
Anomia_present.pdf
Tamanho:
1.84 MB
Formato:
Adobe Portable Document Format
Ver/Abrir

Coleções

FM - Artigos em Revistas Internacionais