Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia
| Autor(a) principal: | |
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| Data de Publicação: | 2023 |
| Outros Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
| Texto Completo: | http://hdl.handle.net/10451/56655 |
Resumo: | © 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. |
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Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementiaFrontotemporal dementiaGeneticsMagnetic resonance imagingNeuropsychiatry© 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.Recent 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.This 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).WileyRepositório da Universidade de LisboaBussy, AurélieLevy, Jake P.Best, TristinPatel, RaihaanCupo, LaniVan Langenhove, TimNielsen, Jørgen E.Pijnenburg, YolandeWaldö, Maria LandqvistRemes, Anne M.Schroeter, Matthias L.Santana, IsabelPasquier, FlorenceOtto, MarkusDanek, AdrianLevin, JohannesLe Ber, IsabelleVandenberghe, RikSynofzik, MatthisMoreno, FerminDe Mendonça, AlexandreSanchez‐Valle, RaquelLaforce, RobertLangheinrich, TobiasGerhard, AlexanderGraff, CarolineButler, Chris R.Sorbi, SandroJiskoot, LizeSeelaar, Harrovan Swieten, John C.Finger, ElizabethTartaglia, Maria CarmelaMasellis, MarioTiraboschi, PietroGalimberti, DanielaBorroni, BarbaraRowe, James B.Bocchetta, MartinaRohrer, Jonathan D.Devenyi, Gabriel A.Chakravarty, M. MallarDucharme, Simon2023-03-14T14:21:30Z20232023-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/56655engHum Brain Mapp. 2023 Mar 9. doi: 10.1002/hbm.262201065-947110.1002/hbm.262201097-0193info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-11-08T17:04:30Zoai:repositorio.ul.pt:10451/56655Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:07:13.071372Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
| dc.title.none.fl_str_mv |
Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia |
| title |
Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia |
| spellingShingle |
Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia Bussy, Aurélie Frontotemporal dementia Genetics Magnetic resonance imaging Neuropsychiatry |
| title_short |
Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia |
| title_full |
Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia |
| title_fullStr |
Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia |
| title_full_unstemmed |
Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia |
| title_sort |
Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia |
| author |
Bussy, Aurélie |
| author_facet |
Bussy, Aurélie Levy, Jake P. Best, Tristin Patel, Raihaan Cupo, Lani Van Langenhove, Tim Nielsen, Jørgen E. Pijnenburg, Yolande Waldö, Maria Landqvist Remes, Anne M. Schroeter, Matthias L. Santana, Isabel Pasquier, Florence Otto, Markus Danek, Adrian Levin, Johannes Le Ber, Isabelle Vandenberghe, Rik Synofzik, Matthis Moreno, Fermin De Mendonça, Alexandre Sanchez‐Valle, Raquel Laforce, Robert Langheinrich, Tobias Gerhard, Alexander Graff, Caroline Butler, Chris R. Sorbi, Sandro Jiskoot, Lize Seelaar, Harro van Swieten, John C. Finger, Elizabeth Tartaglia, Maria Carmela Masellis, Mario Tiraboschi, Pietro Galimberti, Daniela Borroni, Barbara Rowe, James B. Bocchetta, Martina Rohrer, Jonathan D. Devenyi, Gabriel A. Chakravarty, M. Mallar Ducharme, Simon |
| author_role |
author |
| author2 |
Levy, Jake P. Best, Tristin Patel, Raihaan Cupo, Lani Van Langenhove, Tim Nielsen, Jørgen E. Pijnenburg, Yolande Waldö, Maria Landqvist Remes, Anne M. Schroeter, Matthias L. Santana, Isabel Pasquier, Florence Otto, Markus Danek, Adrian Levin, Johannes Le Ber, Isabelle Vandenberghe, Rik Synofzik, Matthis Moreno, Fermin De Mendonça, Alexandre Sanchez‐Valle, Raquel Laforce, Robert Langheinrich, Tobias Gerhard, Alexander Graff, Caroline Butler, Chris R. Sorbi, Sandro Jiskoot, Lize Seelaar, Harro van Swieten, John C. Finger, Elizabeth Tartaglia, Maria Carmela Masellis, Mario Tiraboschi, Pietro Galimberti, Daniela Borroni, Barbara Rowe, James B. Bocchetta, Martina Rohrer, Jonathan D. Devenyi, Gabriel A. Chakravarty, M. Mallar Ducharme, Simon |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Repositório da Universidade de Lisboa |
| dc.contributor.author.fl_str_mv |
Bussy, Aurélie Levy, Jake P. Best, Tristin Patel, Raihaan Cupo, Lani Van Langenhove, Tim Nielsen, Jørgen E. Pijnenburg, Yolande Waldö, Maria Landqvist Remes, Anne M. Schroeter, Matthias L. Santana, Isabel Pasquier, Florence Otto, Markus Danek, Adrian Levin, Johannes Le Ber, Isabelle Vandenberghe, Rik Synofzik, Matthis Moreno, Fermin De Mendonça, Alexandre Sanchez‐Valle, Raquel Laforce, Robert Langheinrich, Tobias Gerhard, Alexander Graff, Caroline Butler, Chris R. Sorbi, Sandro Jiskoot, Lize Seelaar, Harro van Swieten, John C. Finger, Elizabeth Tartaglia, Maria Carmela Masellis, Mario Tiraboschi, Pietro Galimberti, Daniela Borroni, Barbara Rowe, James B. Bocchetta, Martina Rohrer, Jonathan D. Devenyi, Gabriel A. Chakravarty, M. Mallar Ducharme, Simon |
| dc.subject.por.fl_str_mv |
Frontotemporal dementia Genetics Magnetic resonance imaging Neuropsychiatry |
| topic |
Frontotemporal dementia Genetics Magnetic resonance imaging Neuropsychiatry |
| 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. |
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2023 |
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2023-03-14T14:21:30Z 2023 2023-01-01T00:00:00Z |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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http://hdl.handle.net/10451/56655 |
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eng |
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eng |
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Hum Brain Mapp. 2023 Mar 9. doi: 10.1002/hbm.26220 1065-9471 10.1002/hbm.26220 1097-0193 |
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Wiley |
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Wiley |
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