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DC Field | Value | Language |
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dc.contributor.author | Finger, E | - |
dc.contributor.author | Malik, R | - |
dc.contributor.author | Bocchetta, M | - |
dc.contributor.author | Coleman, K | - |
dc.contributor.author | Graff, C | - |
dc.contributor.author | Borroni, B | - |
dc.contributor.author | Masellis, M | - |
dc.contributor.author | Laforce, R | - |
dc.contributor.author | Greaves, CV | - |
dc.contributor.author | Russell, LL | - |
dc.contributor.author | Convery, RS | - |
dc.contributor.author | de Mendonça, A | - |
dc.contributor.author | Moreno, F | - |
dc.contributor.author | Vandenberghe, R | - |
dc.contributor.author | Gazzina, S | - |
dc.contributor.author | Le Ber, I | - |
dc.contributor.author | Archetti, S | - |
dc.contributor.author | Levin, J | - |
dc.contributor.author | Pasquier, F | - |
dc.contributor.author | Santana, I | - |
dc.contributor.author | Rohrer, JD | - |
dc.contributor.author | Papma, JM | - |
dc.contributor.author | Ducharme, S | - |
dc.contributor.author | Esteve, AS | - |
dc.contributor.author | Heller, C | - |
dc.contributor.author | Benotmane, H | - |
dc.contributor.author | Zetterberg, H | - |
dc.contributor.author | Swift, IJ | - |
dc.contributor.author | Samra, K | - |
dc.contributor.author | Shafei, R | - |
dc.contributor.author | Timberlake, C | - |
dc.contributor.author | Thonberg, H | - |
dc.contributor.author | Giannini, L | - |
dc.contributor.author | Cope, T | - |
dc.contributor.author | Rittman, T | - |
dc.contributor.author | Benussi, A | - |
dc.contributor.author | Cantoni, V | - |
dc.contributor.author | Arighi, A | - |
dc.contributor.author | Fenoglio, C | - |
dc.contributor.author | Scarpini, E | - |
dc.contributor.author | Fumagalli, G | - |
dc.contributor.author | Borracci, V | - |
dc.contributor.author | Maruta, C | - |
dc.contributor.author | van Minkelen, R | - |
dc.contributor.author | Öijerstedt, L | - |
dc.contributor.author | Rossi, G | - |
dc.contributor.author | Giaccone, G | - |
dc.contributor.author | Di Fede, G | - |
dc.contributor.author | Caroppo, P | - |
dc.contributor.author | Tiraboschi, P | - |
dc.contributor.author | Prioni, S | - |
dc.contributor.author | Redaelli, V | - |
dc.contributor.author | Tang-Wai, D | - |
dc.contributor.author | Rogaeva, E | - |
dc.contributor.author | do Couto, FS | - |
dc.contributor.author | Castelo-Branco, M | - |
dc.contributor.author | Jelic, V | - |
dc.contributor.author | Ferreira, CB | - |
dc.contributor.author | Freedman, M | - |
dc.contributor.author | Keren, R | - |
dc.contributor.author | Black, S | - |
dc.contributor.author | Mitchell, S | - |
dc.contributor.author | Rademakers, R | - |
dc.contributor.author | Poos, J | - |
dc.contributor.author | Pijnenburg, Y | - |
dc.contributor.author | Miltenberger, G | - |
dc.contributor.author | Nacmias, B | - |
dc.contributor.author | Ferrari, C | - |
dc.contributor.author | Polito, C | - |
dc.contributor.author | Lombardi, G | - |
dc.contributor.author | Rinaldi, D | - |
dc.contributor.author | Bessi, V | - |
dc.contributor.author | Veldsman, M | - |
dc.contributor.author | Andersson, C | - |
dc.contributor.author | Thompson, P | - |
dc.contributor.author | Langheinrich, T | - |
dc.contributor.author | Lladó, A | - |
dc.contributor.author | Antonell, A | - |
dc.contributor.author | Olives, J | - |
dc.contributor.author | Balasa, M | - |
dc.contributor.author | Anderl-Straub, S | - |
dc.contributor.author | Saracino, D | - |
dc.contributor.author | Bargalló, N | - |
dc.contributor.author | Borrego-Ecija, S | - |
dc.contributor.author | Verdelho, A | - |
dc.contributor.author | Gabilondo, A | - |
dc.contributor.author | Gorostidi, A | - |
dc.contributor.author | Villanua, J | - |
dc.contributor.author | Cañada, M | - |
dc.contributor.author | Tainta, M | - |
dc.contributor.author | Zulaica, M | - |
dc.contributor.author | Bouzigues, A | - |
dc.contributor.author | Colliot, O | - |
dc.contributor.author | Rollin, A | - |
dc.contributor.author | Barandiaran, M | - |
dc.contributor.author | Alves, P | - |
dc.contributor.author | Bender, B | - |
dc.contributor.author | Wilke, C | - |
dc.contributor.author | Graf, L | - |
dc.contributor.author | Vogels, A | - |
dc.contributor.author | Vandenbulcke, M | - |
dc.contributor.author | Van Damme, P | - |
dc.contributor.author | Bruffaerts, R | - |
dc.contributor.author | Synofzik, M | - |
dc.contributor.author | Poesen, K | - |
dc.contributor.author | Kuchcinski, G | - |
dc.contributor.author | Cash, DM | - |
dc.contributor.author | Rosa-Neto, P | - |
dc.contributor.author | Gauthier, S | - |
dc.contributor.author | Camuzat, A | - |
dc.contributor.author | Brice, A | - |
dc.contributor.author | Bertrand, A | - |
dc.contributor.author | Funkiewiez, A | - |
dc.contributor.author | Sayah, S | - |
dc.contributor.author | Otto, M | - |
dc.contributor.author | Prix, C | - |
dc.contributor.author | Wlasich, E | - |
dc.contributor.author | Wagemann, O | - |
dc.contributor.author | Loosli, S | - |
dc.contributor.author | Thomas, DL | - |
dc.contributor.author | Schönecker, S | - |
dc.contributor.author | Hoegen, T | - |
dc.contributor.author | Lombardi, J | - |
dc.contributor.author | Bertoux, M | - |
dc.contributor.author | Lebouvier, T | - |
dc.contributor.author | Deramecourt, V | - |
dc.contributor.author | Santiago, B | - |
dc.contributor.author | Duro, D | - |
dc.contributor.author | Leitão, MJ | - |
dc.contributor.author | Premi, E | - |
dc.contributor.author | Todd, EG | - |
dc.contributor.author | Almeida, MR | - |
dc.contributor.author | Tábuas-Pereira, M | - |
dc.contributor.author | Afonso, S | - |
dc.contributor.author | Rowe, JB | - |
dc.contributor.author | Galimberti, D | - |
dc.contributor.author | Tiraboschi, P | - |
dc.contributor.author | Bartha, R | - |
dc.contributor.author | Shoesmith, C | - |
dc.contributor.author | Tartaglia, MC | - |
dc.contributor.author | van Swieten, JC | - |
dc.contributor.author | Nicholas, J | - |
dc.contributor.author | Gasparotti, R | - |
dc.contributor.author | Seelaar, H | - |
dc.contributor.author | Jiskoo, LC | - |
dc.contributor.author | Sorbi, S | - |
dc.contributor.author | Butler, CR | - |
dc.contributor.author | Gerhard, A | - |
dc.contributor.author | Sanchez-Valle, R | - |
dc.contributor.other | the Genetic FTD Initiative (GENFI) | - |
dc.date.accessioned | 2022-12-28T13:02:29Z | - |
dc.date.available | 2022-12-28T13:02:29Z | - |
dc.date.issued | 2022-12-02 | - |
dc.identifier | ORCID iD: Martina Bocchetta https://orcid.org/0000-0003-1814-5024 | - |
dc.identifier.citation | Finger, E. et al., on behalf of the Genetic FTD Initiative (GENFI). (2023) 'Neurodevelopmental effects of genetic frontotemporal dementia in young adult mutation carriers', Brain, 0 (in press), awac446, pp. 1 - 31. doi: 10.1093/brain/awac446. | en_US |
dc.identifier.issn | 0006-8950 | - |
dc.identifier.uri | https://bura.brunel.ac.uk/handle/2438/25679 | - |
dc.description | Supplementary material: Supplementary material is available at Brain online. | en_US |
dc.description.abstract | Copyright © The Author(s) 2022. While frontotemporal dementia (frontotemporal dementia) has been considered a neurodegenerative disease that starts in mid-life or later, it is now clearly established that cortical and subcortical volume loss is observed more than a decade prior to symptom onset and progresses with aging. To test the hypothesis that genetic mutations causing frontotemporal dementia have neurodevelopmental consequences, we have examined the youngest adults in the GENFI cohort of pre-symptomatic frontotemporal dementia mutation carriers who are between the ages of 19 and 30y. Structural brain differences and improved performance on some cognitive tests was found for MAPT and GRN mutation carriers relative to familial non-carriers, while smaller volumes were observed in C9orf72 repeat expansion carriers at a mean age of 26y. The detection of such early differences supports potential advantageous neurodevelopmental consequences of some frontotemporal dementia causing genetic mutations. These results have implications for design of therapeutic interventions for frontotemporal dementia. Future studies at younger ages are needed to identify specific early pathophysiologic or compensatory processes in the neurodevelopmental period. | en_US |
dc.description.sponsorship | This project was supported by Canadian Institutes of Health Research as part of a Centres of Excellence in Neurodegeneration grant, and by Canadian Institutes of Health Research operating grants (327387; 452843; 70797). The 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 National Institute for Health Research (NIHR) Queen Square Dementia Biomedical Research Unit and the University College London Hospitals 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. This work was also supported by the MRC UK GENFI grant (MR/M023664/1), the Italian Ministry of Health (CoEN015 and Ricerca Corrente), 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 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). JBR is funded by the Wellcome Trust (103838) and the National Institute for Health Research Cambridge Biomedical Research Centre. 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). RV’s work is supported by the Mady Browaeys Fonds voor Onderzoek naar Frontotemporale Degeneratie. Several authors of this publication (JCvS, MS, RSV, AD, MO, RV, JDR) are members of the European Reference Network for Rare Neurological Diseases (ERN-RND) - Project ID No 739510. | en_US |
dc.format.medium | Print-Electronic | - |
dc.language | English | - |
dc.language.iso | en_US | en_US |
dc.publisher | Oxford University Press on behalf of the Guarantors of Brain | en_US |
dc.rights | Copyright © The Author(s) 2022. Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com This article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model (https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model) | - |
dc.rights.uri | https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model | - |
dc.subject | frontotemporal dementia | en_US |
dc.subject | MAPT | en_US |
dc.subject | GRN | en_US |
dc.subject | C9orf72 | en_US |
dc.subject | neurodevelopment | en_US |
dc.title | Neurodevelopmental effects of genetic frontotemporal dementia in young adult mutation carriers | en_US |
dc.type | Article | en_US |
dc.identifier.doi | https://doi.org/10.1093/brain/awac446 | - |
dc.relation.isPartOf | Brain | - |
pubs.publication-status | Published online | - |
dc.identifier.eissn | 1460-2156 | - |
dc.rights.holder | The Author(s). Published by Oxford University Press on behalf of the Guarantors of Brain. | - |
Appears in Collections: | Dept of Life Sciences Embargoed Research Papers |
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FullText.pdf | Embargoed until 2 December 2023 | 1.01 MB | Adobe PDF | View/Open |
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