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Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia

2023Artigo científico Acesso aberto
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dc.contributor.authorBussy, Aurélie
dc.contributor.authorLevy, Jake P.
dc.contributor.authorBest, Tristin
dc.contributor.authorPatel, Raihaan
dc.contributor.authorCupo, Lani
dc.contributor.authorVan Langenhove, Tim
dc.contributor.authorNielsen, Jørgen E.
dc.contributor.authorPijnenburg, Yolande
dc.contributor.authorWaldö, Maria Landqvist
dc.contributor.authorRemes, Anne M.
dc.contributor.authorSchroeter, Matthias L.
dc.contributor.authorSantana, Isabel
dc.contributor.authorPasquier, Florence
dc.contributor.authorOtto, Markus
dc.contributor.authorDanek, Adrian
dc.contributor.authorLevin, Johannes
dc.contributor.authorLe Ber, Isabelle
dc.contributor.authorVandenberghe, Rik
dc.contributor.authorSynofzik, Matthis
dc.contributor.authorMoreno, Fermin
dc.contributor.authorDe Mendonça, Alexandre
dc.contributor.authorSanchez‐Valle, Raquel
dc.contributor.authorLaforce, Robert
dc.contributor.authorLangheinrich, Tobias
dc.contributor.authorGerhard, Alexander
dc.contributor.authorGraff, Caroline
dc.contributor.authorButler, Chris R.
dc.contributor.authorSorbi, Sandro
dc.contributor.authorJiskoot, Lize
dc.contributor.authorSeelaar, Harro
dc.contributor.authorvan Swieten, John C.
dc.contributor.authorFinger, Elizabeth
dc.contributor.authorTartaglia, Maria Carmela
dc.contributor.authorMasellis, Mario
dc.contributor.authorTiraboschi, Pietro
dc.contributor.authorGalimberti, Daniela
dc.contributor.authorBorroni, Barbara
dc.contributor.authorRowe, James B.
dc.contributor.authorBocchetta, Martina
dc.contributor.authorRohrer, Jonathan D.
dc.contributor.authorDevenyi, Gabriel A.
dc.contributor.authorChakravarty, M. Mallar
dc.contributor.authorDucharme, Simon
dc.date.accessioned2023-03-14T14:21:30Z
dc.date.available2023-03-14T14:21:30Z
dc.date.issued2023
dc.description© 2023 The Authors. Human Brain Mapping published by Wiley Periodicals LLC. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.pt_PT
dc.description.abstractRecent studies have reported early cerebellar and subcortical impact in the disease progression of genetic frontotemporal dementia (FTD) due to microtubule-associated protein tau (MAPT), progranulin (GRN) and chromosome 9 open reading frame 72 (C9orf72). However, the cerebello-subcortical circuitry in FTD has been understudied despite its essential role in cognition and behaviors related to FTD symptomatology. The present study aims to investigate the association between cerebellar and subcortical atrophy, and neuropsychiatric symptoms across genetic mutations. Our study included 983 participants from the Genetic Frontotemporal dementia Initiative including mutation carriers and noncarrier first-degree relatives of known symptomatic carriers. Voxel-wise analysis of the thalamus, striatum, globus pallidus, amygdala, and the cerebellum was performed, and partial least squares analyses (PLS) were used to link morphometry and behavior. In presymptomatic C9orf72 expansion carriers, thalamic atrophy was found compared to noncarriers, suggesting the importance of this structure in FTD prodromes. PLS analyses demonstrated that the cerebello-subcortical circuitry is related to neuropsychiatric symptoms, with significant overlap in brain/behavior patterns, but also specificity for each genetic mutation group. The largest differences were in the cerebellar atrophy (larger extent in C9orf72 expansion group) and more prominent amygdalar volume reduction in the MAPT group. Brain scores in the C9orf72 expansion carriers and MAPT carriers demonstrated covariation patterns concordant with atrophy patterns detectable up to 20 years before expected symptom onset. Overall, these results demonstrated the important role of the subcortical structures in genetic FTD symptom expression, particularly the cerebellum in C9orf72 and the amygdala in MAPT carriers.pt_PT
dc.description.sponsorshipThis work was also supported by the MRC UK GENFI grant (MR/M023664/1), the Italian Ministry of Health (CoEN015 and Ricerca Corrente), the Canadian Institutes of Health Research as part of a Centres of Excellence in Neurodegeneration grant, a Canadian Institutes of Health Research operating grant, the Alzheimer's Society grant (AS-PG-16-007), the Bluefield Project and the JPND GENFI-PROX grant (2019–02248). MB is supported by a Fellowship award from the Alzheimer's Society, UK (AS-JF-19a-004-517). MB's work was 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. JDR is an MRC Clinician Scientist (MR/M008525/1) and has received funding from the NIHR Rare Diseases Translational Research Collaboration (BRC149/NS/MH), the Bluefield Project and the Association for Frontotemporal Degeneration. 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). Several authors of this publication (JCvS, MS, RSV, AD, MO, JDR) are members of the European Reference Network for Rare Neurological Diseases (ERN-RND) - 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). This research was supported by the NIHR Cambridge Biomedical Research Centre (BRC-1215-20014).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationHum Brain Mapp. 2023 Mar 9. doi: 10.1002/hbm.26220pt_PT
dc.identifier.doi10.1002/hbm.26220pt_PT
dc.identifier.eissn1097-0193
dc.identifier.issn1065-9471
dc.identifier.urihttp://hdl.handle.net/10451/56655
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWileypt_PT
dc.relation.publisherversionhttps://onlinelibrary.wiley.com/journal/10970193pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectFrontotemporal dementiapt_PT
dc.subjectGeneticspt_PT
dc.subjectMagnetic resonance imagingpt_PT
dc.subjectNeuropsychiatrypt_PT
dc.titleCerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementiapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.titleHuman Brain Mappingpt_PT
person.familyNamede Mendonça
person.givenNameAlexandre
person.identifier.ciencia-id1615-41B4-0848
person.identifier.orcid0000-0002-0488-1453
person.identifier.scopus-author-id7003320823
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication53ca3547-99ce-4b68-9330-7879a54c47b7
relation.isAuthorOfPublication.latestForDiscovery53ca3547-99ce-4b68-9330-7879a54c47b7

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