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Differential early subcortical involvement in genetic FTD within the GENFI cohort

2021Journal article Open access
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dc.contributor.authorBocchetta, Martina
dc.contributor.authorTodd, Emily G.
dc.contributor.authorPeakman, Georgia
dc.contributor.authorCash, David M.
dc.contributor.authorConvery, Rhian S.
dc.contributor.authorRussell, Lucy L.
dc.contributor.authorThomas, David L.
dc.contributor.authorEugenio Iglesias, Juan
dc.contributor.authorvan Swieten, John C.
dc.contributor.authorJiskoot, Lize C.
dc.contributor.authorSeelaar, Harro
dc.contributor.authorBorroni, Barbara
dc.contributor.authorGalimberti, Daniela
dc.contributor.authorSanchez-Valle, Raquel
dc.contributor.authorLaforce, Robert
dc.contributor.authorMoreno, Fermin
dc.contributor.authorSynofzik, Matthis
dc.contributor.authorGraff, Caroline
dc.contributor.authorMasellis, Mario
dc.contributor.authorCarmela Tartaglia, Maria
dc.contributor.authorRowe, James B.
dc.contributor.authorVandenberghe, Rik
dc.contributor.authorFinger, Elizabeth
dc.contributor.authorTagliavini, Fabrizio
dc.contributor.authorde Mendonça, Alexandre
dc.contributor.authorSantana, Isabel
dc.contributor.authorButler, Chris R.
dc.contributor.authorDucharme, Simon
dc.contributor.authorGerhard, Alexander
dc.contributor.authorDanek, Adrian
dc.contributor.authorLevin, Johannes
dc.contributor.authorOtto, Markus
dc.contributor.authorSorbi, Sandro
dc.contributor.authorLe Ber, Isabelle
dc.contributor.authorPasquier, Florence
dc.contributor.authorRohrer, Jonathan D.
dc.contributor.authorAfonso, Sónia
dc.contributor.authorRosario Almeida, Maria
dc.contributor.authorAnderl-Straub, Sarah
dc.contributor.authorAndersson, Christin
dc.contributor.authorAntonell, Anna
dc.contributor.authorArchetti, Silvana
dc.contributor.authorArighi, Andrea
dc.contributor.authorBalasa, Mircea
dc.contributor.authorBarandiaran, Myriam
dc.contributor.authorBargalló, Nuria
dc.contributor.authorBartha, Robart
dc.contributor.authorBender, Benjamin
dc.contributor.authorBenussi, Alberto
dc.contributor.authorBertoux, Maxime
dc.contributor.authorBertrand, Anne
dc.contributor.authorBessi, Valentina
dc.contributor.authorBlack, Sandra
dc.contributor.authorBorrego-Ecija, Sergi
dc.contributor.authorBras, Jose
dc.contributor.authorBrice, Alexis
dc.contributor.authorBruffaerts, Rose
dc.contributor.authorCamuzat, Agnès
dc.contributor.authorCañada, Marta
dc.contributor.authorCantoni, Valentina
dc.contributor.authorCaroppo, Paola
dc.contributor.authorCastelo-Branco, Miguel
dc.contributor.authorColliot, Olivier
dc.contributor.authorCope, Thomas
dc.contributor.authorDeramecourt, Vincent
dc.contributor.authorde Arriba, María
dc.contributor.authorDi Fede, Giuseppe
dc.contributor.authorDíez, Alina
dc.contributor.authorDuro, Diana
dc.contributor.authorFenoglio, Chiara
dc.contributor.authorFerrari, Camilla
dc.contributor.authorFerreira, Catarina B.
dc.contributor.authorFox, Nick
dc.contributor.authorFreedman, Morris
dc.contributor.authorFumagalli, Giorgio
dc.contributor.authorFunkiewiez, Aurélie
dc.contributor.authorGabilondo, Alazne
dc.contributor.authorGasparotti, Roberto
dc.contributor.authorGauthier, Serge
dc.contributor.authorGazzina, Stefano
dc.contributor.authorGiaccone, Giorgio
dc.contributor.authorGorostidi, Ana
dc.contributor.authorGreaves, Caroline
dc.contributor.authorGuerreiro, Rita
dc.contributor.authorHeller, Carolin
dc.contributor.authorHoegen, Tobias
dc.contributor.authorIndakoetxea, Begoña
dc.contributor.authorJelic, Vesna
dc.contributor.authorKarnath, Hans-Otto
dc.contributor.authorKeren, Ron
dc.contributor.authorKuchcinski, Gregory
dc.contributor.authorLangheinrich, Tobias
dc.contributor.authorLebouvier, Thibaud
dc.contributor.authorJoão Leitão, Maria
dc.contributor.authorLladó, Albert
dc.contributor.authorLombardi, Gemma
dc.contributor.authorLoosli, Sandra
dc.contributor.authorMaruta, Carolina
dc.contributor.authorMead, Simon
dc.contributor.authorMeeter, Lieke
dc.contributor.authorMiltenberger, Gabriel
dc.contributor.authorvan Minkelen, Rick
dc.contributor.authorMitchell, Sara
dc.contributor.authorMoore, Katrina
dc.contributor.authorNacmias, Benedetta
dc.contributor.authorNelson, Annabel
dc.contributor.authorNicholas, Jennifer
dc.contributor.authorÖijerstedt, Linn
dc.contributor.authorOlives, Jaume
dc.contributor.authorOurselin, Sebastien
dc.contributor.authorPadovani, Alessandro
dc.contributor.authorPanman, Jessica
dc.contributor.authorPapma, Janne M.
dc.contributor.authorPijnenburg, Yolande
dc.contributor.authorPolito, Cristina
dc.contributor.authorPremi, Enrico
dc.contributor.authorPrioni, Sara
dc.contributor.authorPrix, Catharina
dc.contributor.authorRademakers, Rosa
dc.contributor.authorRedaelli, Veronica
dc.contributor.authorRinaldi, Daisy
dc.contributor.authorRittman, Tim
dc.contributor.authorRogaeva, Ekaterina
dc.contributor.authorRollin, Adeline
dc.contributor.authorRosa-Neto, Pedro
dc.contributor.authorRossi, Giacomina
dc.contributor.authorRossor, Martin
dc.contributor.authorSantiago, Beatriz
dc.contributor.authorSaracino, Dario
dc.contributor.authorSayah, Sabrina
dc.contributor.authorScarpini, Elio
dc.contributor.authorSchönecker, Sonja
dc.contributor.authorSemler, Elisa
dc.contributor.authorShafei, Rachelle
dc.contributor.authorShoesmith, Christen
dc.contributor.authorSwift, Imogen
dc.contributor.authorTábuas-Pereira, Miguel
dc.contributor.authorTainta, Mikel
dc.contributor.authorTaipa, Ricardo
dc.contributor.authorTang-Wai, David
dc.contributor.authorThompson, Paul
dc.contributor.authorThonberg, Hakan
dc.contributor.authorTimberlake, Carolyn
dc.contributor.authorTiraboschi, Pietro
dc.contributor.authorVan Damme, Philip
dc.contributor.authorVandenbulcke, Mathieu
dc.contributor.authorVeldsman, Michele
dc.contributor.authorVerdelho, Ana
dc.contributor.authorVillanua, Jorge
dc.contributor.authorWarren, Jason
dc.contributor.authorWilke, Carlo
dc.contributor.authorWoollacott, Ione
dc.contributor.authorWlasich, Elisabeth
dc.contributor.authorZetterberg, Henrik
dc.contributor.authorZulaica, Miren
dc.date.accessioned2023-10-24T11:46:59Z
dc.date.available2023-10-24T11:46:59Z
dc.date.issued2021
dc.description.abstractBackground: Studies have previously shown evidence for presymptomatic cortical atrophy in genetic FTD. Whilst initial investigations have also identified early deep grey matter volume loss, little is known about the extent of subcortical involvement, particularly within subregions, and how this differs between genetic groups. Methods: 480 mutation carriers from the Genetic FTD Initiative (GENFI) were included (198 GRN, 202 C9orf72, 80 MAPT), together with 298 non-carrier cognitively normal controls. Cortical and subcortical volumes of interest were generated using automated parcellation methods on volumetric 3 T T1-weighted MRI scans. Mutation carriers were divided into three disease stages based on their global CDR® plus NACC FTLD score: asymptomatic (0), possibly or mildly symptomatic (0.5) and fully symptomatic (1 or more). Results: In all three groups, subcortical involvement was seen at the CDR 0.5 stage prior to phenoconversion, whereas in the C9orf72 and MAPT mutation carriers there was also involvement at the CDR 0 stage. In the C9orf72 expansion carriers the earliest volume changes were in thalamic subnuclei (particularly pulvinar and lateral geniculate, 9-10%) cerebellum (lobules VIIa-Crus II and VIIIb, 2-3%), hippocampus (particularly presubiculum and CA1, 2-3%), amygdala (all subregions, 2-6%) and hypothalamus (superior tuberal region, 1%). In MAPT mutation carriers changes were seen at CDR 0 in the hippocampus (subiculum, presubiculum and tail, 3-4%) and amygdala (accessory basal and superficial nuclei, 2-4%). GRN mutation carriers showed subcortical differences at CDR 0.5 in the presubiculum of the hippocampus (8%). Conclusions: C9orf72 expansion carriers show the earliest and most widespread changes including the thalamus, basal ganglia and medial temporal lobe. By investigating individual subregions, changes can also be seen at CDR 0 in MAPT mutation carriers within the limbic system. Our results suggest that subcortical brain volumes may be used as markers of neurodegeneration even prior to the onset of prodromal symptoms.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationBocchetta M, Todd EG, Peakman G, et al. Differential early subcortical involvement in genetic FTD within the GENFI cohort. Neuroimage Clin. 2021;30:102646. doi:10.1016/j.nicl.2021.102646pt_PT
dc.identifier.doi10.1016/j.nicl.2021.102646pt_PT
dc.identifier.issn2213-1582
dc.identifier.urihttp://hdl.handle.net/10400.16/2849
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.relation.publisherversionhttps://www.sciencedirect.com/science/article/pii/S2213158221000905?via%3Dihubpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectBrain volumetrypt_PT
dc.subjectGenetic frontotemporal dementiapt_PT
dc.subjectMRI imagingpt_PT
dc.subjectPresymptomatic stagept_PT
dc.titleDifferential early subcortical involvement in genetic FTD within the GENFI cohortpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceNetherlandspt_PT
oaire.citation.startPage102646pt_PT
oaire.citation.titleNeuroImage: Clinicalpt_PT
oaire.citation.volume30pt_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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