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DC Field | Value | Language |
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dc.contributor.author | Bergström, S | - |
dc.contributor.author | Öijerstedt, L | - |
dc.contributor.author | Remnestål, J | - |
dc.contributor.author | Olofsson, J | - |
dc.contributor.author | Ullgren, A | - |
dc.contributor.author | Seelaar, H | - |
dc.contributor.author | van Swieten, JC | - |
dc.contributor.author | Synofzik, M | - |
dc.contributor.author | Sanchez-Valle, R | - |
dc.contributor.author | Moreno, F | - |
dc.contributor.author | Finger, E | - |
dc.contributor.author | Mead, S | - |
dc.contributor.author | Meeter, L | - |
dc.contributor.author | Miltenberger, G | - |
dc.contributor.author | van Minkelen, R | - |
dc.contributor.author | Mitchell, S | - |
dc.contributor.author | Masellis, M | - |
dc.contributor.author | Tartaglia, C | - |
dc.contributor.author | Vandenberghe, R | - |
dc.contributor.author | Laforce, R | - |
dc.contributor.author | Galimberti, D | - |
dc.contributor.author | Borroni, B | - |
dc.contributor.author | Butler, CR | - |
dc.contributor.author | Gerhard, A | - |
dc.contributor.author | Ducharme, S | - |
dc.contributor.author | Rohrer, JD | - |
dc.contributor.author | Månberg, A | - |
dc.contributor.author | Graff, C | - |
dc.contributor.author | Nilsson, P | - |
dc.contributor.author | Jiskoot, L | - |
dc.contributor.author | Rowe, JB | - |
dc.contributor.author | de Mendonça, A | - |
dc.contributor.author | Tagliavini, F | - |
dc.contributor.author | Santana, I | - |
dc.contributor.author | Le Ber, I | - |
dc.contributor.author | Levin, J | - |
dc.contributor.author | Danek, A | - |
dc.contributor.author | Otto, M | - |
dc.contributor.author | Frisoni, G | - |
dc.contributor.author | Ghidoni, R | - |
dc.contributor.author | Sorbi, S | - |
dc.contributor.author | Pasquier, F | - |
dc.contributor.author | Jelic, V | - |
dc.contributor.author | Andersson, C | - |
dc.contributor.author | Afonso, S | - |
dc.contributor.author | Almeida, MR | - |
dc.contributor.author | Anderl-Straub, S | - |
dc.contributor.author | Antonell, A | - |
dc.contributor.author | Archetti, S | - |
dc.contributor.author | Arighi, A | - |
dc.contributor.author | Balasa, M | - |
dc.contributor.author | Barandiaran, M | - |
dc.contributor.author | Bargalló, N | - |
dc.contributor.author | Bartha, R | - |
dc.contributor.author | Bender, B | - |
dc.contributor.author | Benussi, A | - |
dc.contributor.author | Benussi, L | - |
dc.contributor.author | Bessi, V | - |
dc.contributor.author | Binetti, G | - |
dc.contributor.author | Black, S | - |
dc.contributor.author | Bocchetta, M | - |
dc.contributor.author | Borrego-Ecija, S | - |
dc.contributor.author | Bras, J | - |
dc.contributor.author | Bruffaerts, R | - |
dc.contributor.author | Cañada, M | - |
dc.contributor.author | Cantoni, V | - |
dc.contributor.author | Caroppo, P | - |
dc.contributor.author | Cash, D | - |
dc.contributor.author | Castelo-Branco, M | - |
dc.contributor.author | Convery, R | - |
dc.contributor.author | Cope, T | - |
dc.contributor.author | Di Fede, G | - |
dc.contributor.author | Díez, A | - |
dc.contributor.author | Duro, D | - |
dc.contributor.author | Fenoglio, C | - |
dc.contributor.author | Ferrari, C | - |
dc.contributor.author | Ferreira, CB | - |
dc.contributor.author | Fox, N | - |
dc.contributor.author | Freedman, M | - |
dc.contributor.author | Fumagalli, G | - |
dc.contributor.author | Gabilondo, A | - |
dc.contributor.author | Gasparotti, R | - |
dc.contributor.author | Gauthier, S | - |
dc.contributor.author | Gazzina, S | - |
dc.contributor.author | Giaccone, G | - |
dc.contributor.author | Gorostidi, A | - |
dc.contributor.author | Greaves, C | - |
dc.contributor.author | Guerreiro, R | - |
dc.contributor.author | Heller, C | - |
dc.contributor.author | Hoegen, T | - |
dc.contributor.author | Indakoetxea, B | - |
dc.contributor.author | Jiskoot, L | - |
dc.contributor.author | Karnath, HO | - |
dc.contributor.author | Keren, R | - |
dc.contributor.author | Langheinrich, T | - |
dc.contributor.author | Leitão, MJ | - |
dc.contributor.author | Lladó, A | - |
dc.contributor.author | Lombardi, G | - |
dc.contributor.author | Loosli, S | - |
dc.contributor.author | Maruta, C | - |
dc.contributor.other | Genetic Frontotemporal Dementia Initiative (GENFI) | - |
dc.date.accessioned | 2023-01-03T20:53:51Z | - |
dc.date.available | 2023-01-03T20:53:51Z | - |
dc.date.issued | 2021-11-27 | - |
dc.identifier | ORCID iD: Martina Bocchetta https://orcid.org/0000-0003-1814-5024 | - |
dc.identifier | 79 | - |
dc.identifier.citation | Bergström S. et al. on behalf of the (2021) 'A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study', Molecular Neurodegeneration, 16 (1), 79, pp. 1 - 14. doi: 10.1186/s13024-021-00499-4. | en_US |
dc.identifier.uri | https://bura.brunel.ac.uk/handle/2438/25705 | - |
dc.description | Availability of data and materials: The datasets used and/or analysed during the current study are available from the corresponding author on reasonable request. | en_US |
dc.description | Supplementary Information: Additional file 1 of A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study; Additional file 2 of A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study; both files are available online at https://doi.org/10.1186/s13024-021-00499-4 | - |
dc.description.abstract | Copyright © The Author(s) 2021. Background: A detailed understanding of the pathological processes involved in genetic frontotemporal dementia is critical in order to provide the patients with an optimal future treatment. Protein levels in CSF have the potential to reflect different pathophysiological processes in the brain. We aimed to identify and evaluate panels of CSF proteins with potential to separate symptomatic individuals from individuals without clinical symptoms (unaffected), as well as presymptomatic individuals from mutation non-carriers. Methods: A multiplexed antibody-based suspension bead array was used to analyse levels of 111 proteins in CSF samples from 221 individuals from families with genetic frontotemporal dementia. The data was explored using LASSO and Random forest. Results: When comparing affected individuals with unaffected individuals, 14 proteins were identified as potentially important for the separation. Among these, four were identified as most important, namely neurofilament medium polypeptide (NEFM), neuronal pentraxin 2 (NPTX2), neurosecretory protein VGF (VGF) and aquaporin 4 (AQP4). The combined profile of these four proteins successfully separated the two groups, with higher levels of NEFM and AQP4 and lower levels of NPTX2 in affected compared to unaffected individuals. VGF contributed to the models, but the levels were not significantly lower in affected individuals. Next, when comparing presymptomatic GRN and C9orf72 mutation carriers in proximity to symptom onset with mutation non-carriers, six proteins were identified with a potential to contribute to a separation, including progranulin (GRN). Conclusion: In conclusion, we have identified several proteins with the combined potential to separate affected individuals from unaffected individuals, as well as proteins with potential to contribute to the separation between presymptomatic individuals and mutation non-carriers. Further studies are needed to continue the investigation of these proteins and their potential association to the pathophysiological mechanisms in genetic FTD. | en_US |
dc.description.sponsorship | This study has received support from the Swedish FTD initiative funded by the Schörling Family Foundation. This work was also funded by KTH Center for Applied Precision Medicine (KCAP) funded by the Erling-Persson Family Foundation, grants from Vetenskapsrådet Dnr 529-2014-7504, VR 2015-02926 and 2018-02754, Swedish Alzheimer Foundation, Swedish Brain Foundation, Åhlén foundation, Demensfonden, Stohnes foundation, Gamla Tjänarinnor and Stockholm County Council ALF. Furthermore, support was received by the MRC UK GENFI grant (MR/M023664/1), the Bluefield Project, the JPND GENFI-PROX grant (2019-02248), the Dioraphte Foundation [grant numbers 09-02-00]; the Association for Frontotemporal Dementias Research Grant 2009; The Netherlands Organization for Scientific Research (NWO) (grant HCMI 056-13-018); ZonMw Memorabel (Deltaplan Dementie), (project numbers 733 050 103 and 733 050 813); JPND PreFrontAls consortium (project number 733051042). JDR is supported by an MRC Clinician Scientist Fellowship (MR/M008525/1) and has received funding from the NIHR Rare Disease Translational Research Collaboration (BRC149/NS/MH). Several authors of this publication are members of the European Reference Network for Rare Neurological Diseases - Project ID No 739510. M.S. was supported by the JPND grant “GENFI-prox” (by DLR/BMBF to M. S, joint with JDR., J.vS., M.O., B.B. and C.G.). Open Access funding provided by Royal Institute of Technology. | en_US |
dc.format.extent | 1 - 14 | - |
dc.format.medium | Electronic | - |
dc.language | English | - |
dc.language.iso | en_US | en_US |
dc.publisher | BioMed Centra (part of Springer Nature) | en_US |
dc.rights | Copyright © The Author(s) 2021. Rights and permissions: Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit https://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (https://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. | - |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | - |
dc.subject | cerebrospinal fluid | en_US |
dc.subject | neurofilament medium polypeptide (NEFM) | en_US |
dc.subject | neuronal pentraxin 2 (NPTX2) | en_US |
dc.subject | neurosecretory protein VGF (VGF) | en_US |
dc.subject | aquaporin 4 (AQP4) | en_US |
dc.subject | LASSO | en_US |
dc.subject | random forest | en_US |
dc.subject | suspension bead array | en_US |
dc.title | A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study | en_US |
dc.type | Article | en_US |
dc.identifier.doi | https://doi.org/10.1186/s13024-021-00499-4 | - |
dc.relation.isPartOf | Molecular Neurodegeneration | - |
pubs.issue | 1 | - |
pubs.publication-status | Published | - |
pubs.volume | 16 | - |
dc.identifier.eissn | 1750-1326 | - |
dc.rights.holder | The Author(s) | - |
Appears in Collections: | Dept of Life Sciences Research Papers |
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