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Disease-related cortical thinning in presymptomatic granulin mutation carriers

2021Journal article Open access
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dc.contributor.authorBorrego-Écija, Sergi
dc.contributor.authorSala-Llonch, Roser
dc.contributor.authorvan Swieten, John
dc.contributor.authorBorroni, Barbara
dc.contributor.authorMoreno, Fermín
dc.contributor.authorMasellis, Mario
dc.contributor.authorTartaglia, Carmela
dc.contributor.authorGraff, Caroline
dc.contributor.authorGalimberti, Daniela
dc.contributor.authorLaforce, Robert
dc.contributor.authorRowe, James B
dc.contributor.authorFinger, Elizabeth
dc.contributor.authorVandenberghe, Rik
dc.contributor.authorTagliavini, Fabrizio
dc.contributor.authorde Mendonça, Alexandre
dc.contributor.authorSantana, Isabel
dc.contributor.authorSynofzik, Matthis
dc.contributor.authorDucharme, Simon
dc.contributor.authorLevin, Johannes
dc.contributor.authorDanek, Adrian
dc.contributor.authorGerhard, Alex
dc.contributor.authorOtto, Markus
dc.contributor.authorButler, Chris
dc.contributor.authorFrisoni, Giovanni
dc.contributor.authorSorbi, Sandro
dc.contributor.authorHeller, Carolin
dc.contributor.authorBocchetta, Martina
dc.contributor.authorCash, David M
dc.contributor.authorConvery, Rhian S
dc.contributor.authorMoore, Katrina M
dc.contributor.authorRohrer, Jonathan D
dc.contributor.authorSanchez-Valle, Raquel
dc.contributor.authorRossor, Martin N.
dc.contributor.authorFox, Nick C.
dc.contributor.authorWoollacott, Ione O.C.
dc.contributor.authorShafei, Rachelle
dc.contributor.authorGreaves, Caroline
dc.contributor.authorNeason, Mollie
dc.contributor.authorGuerreiro, Rita
dc.contributor.authorBras, Jose
dc.contributor.authorThomas, David L.
dc.contributor.authorNicholas, Jennifer
dc.contributor.authorMead, Simon
dc.contributor.authorMeeter, Lieke
dc.contributor.authorPanman, Jessica
dc.contributor.authorPapma, Janne
dc.contributor.authorvan Minkelen, Rick
dc.contributor.authorPijnenburg, Yolande
dc.contributor.authorIndakoetxea, Begoña
dc.contributor.authorGabilondo, Alazne
dc.contributor.authorTaintaMD, Mikel
dc.contributor.authorde Arriba, Maria
dc.contributor.authorGorostidi, Ana
dc.contributor.authorZulaica, Miren
dc.contributor.authorVillanua, Jorge
dc.contributor.authorDiaz, Zigor
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, Maura
dc.contributor.authorGazzina, Stefano
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.authorKeren, Ron
dc.contributor.authorTang-Wai, David
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.contributor.authorScarpini MD, Elio
dc.contributor.authorFumagalli, Giorgio
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.authorBender, Benjamin
dc.contributor.authorBruffaerts, Rose
dc.contributor.authorVandamme, Philip
dc.contributor.authorVandenbulcke, Mathieu
dc.contributor.authorMaruta, Carolina
dc.contributor.authorFerreira, Catarina B.
dc.contributor.authorMiltenberger, Gabriel
dc.contributor.authorVerdelho, Ana
dc.contributor.authorAfonso, Sónia
dc.contributor.authorTaipa, Ricardo
dc.contributor.authorCaroppo, Paola
dc.contributor.authorDi Fede, Giuseppe
dc.contributor.authorGiaccone, Giorgio
dc.contributor.authorPrioni, Sara
dc.contributor.authorRedaelli, Veronica
dc.contributor.authorRossi, Giacomina
dc.contributor.authorTiraboschi, Pietro
dc.contributor.authorDuro, Diana
dc.contributor.authorRosario Almeida, Maria
dc.contributor.authorCastelo-Branco, Miguel
dc.contributor.authorJoão Leitão, Maria
dc.contributor.authorTabuas-Pereira, Miguel
dc.contributor.authorSantiago, Beatriz
dc.contributor.authorGauthier, Serge
dc.contributor.authorRosa-Neto, Pedro
dc.contributor.authorVeldsman, Michele
dc.contributor.authorFlanagan, Toby
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.authorAnderl-Straub, Sarah
dc.date.accessioned2023-10-24T11:57:42Z
dc.date.available2023-10-24T11:57:42Z
dc.date.issued2021
dc.description.abstractMutations in the granulin gene (GRN) cause familial frontotemporal dementia. Understanding the structural brain changes in presymptomatic GRN carriers would enforce the use of neuroimaging biomarkers for early diagnosis and monitoring. We studied 100 presymptomatic GRN mutation carriers and 94 noncarriers from the Genetic Frontotemporal dementia initiative (GENFI), with MRI structural images. We analyzed 3T MRI structural images using the FreeSurfer pipeline to calculate the whole brain cortical thickness (CTh) for each subject. We also perform a vertex-wise general linear model to assess differences between groups in the relationship between CTh and diverse covariables as gender, age, the estimated years to onset and education. We also explored differences according to TMEM106B genotype, a possible disease modifier. Whole brain CTh did not differ between carriers and noncarriers. Both groups showed age-related cortical thinning. The group-by-age interaction analysis showed that this age-related cortical thinning was significantly greater in GRN carriers in the left superior frontal cortex. TMEM106B did not significantly influence the age-related cortical thinning. Our results validate and expand previous findings suggesting an increased CTh loss associated with age and estimated proximity to symptoms onset in GRN carriers, even before the disease onset.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationBorrego-Écija S, Sala-Llonch R, van Swieten J, et al. Disease-related cortical thinning in presymptomatic granulin mutation carriers. Neuroimage Clin. 2021;29:102540. doi:10.1016/j.nicl.2020.102540pt_PT
dc.identifier.doi10.1016/j.nicl.2020.102540pt_PT
dc.identifier.issn2213-1582
dc.identifier.urihttp://hdl.handle.net/10400.16/2850
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.relation.publisherversionhttps://www.sciencedirect.com/science/article/pii/S2213158220303776?via%3Dihubpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectCortical thicknesspt_PT
dc.subjectFrontotemporal dementiapt_PT
dc.subjectGRNpt_PT
dc.subjectGenetic mutationsicpt_PT
dc.subjectPresymptomatpt_PT
dc.titleDisease-related cortical thinning in presymptomatic granulin mutation carrierspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceNetherlandspt_PT
oaire.citation.startPage102540pt_PT
oaire.citation.titleNeuroImage: Clinicalpt_PT
oaire.citation.volume29pt_PT
person.familyNameFerreira Taipa
person.givenNameRicardo Jorge
person.identifier.ciencia-idE316-D53D-8537
person.identifier.orcid0000-0002-9260-0227
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication97a7bf34-226a-4dc2-ae31-d0f86030cb52
relation.isAuthorOfPublication.latestForDiscovery97a7bf34-226a-4dc2-ae31-d0f86030cb52

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