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dc.contributor.authorFaber, Jennifer
dc.contributor.authorBerger, Moritz
dc.contributor.authorWilke, Carlo
dc.contributor.authorHubener-Schmid, Jeannette
dc.contributor.authorSchaprian, Tamara
dc.contributor.authorSantana, Magda M.
dc.contributor.authorGrobe-Einsler, Marcus
dc.contributor.authorOnder, Demet
dc.contributor.authorKoyak, Berkan
dc.contributor.authorGiunti, Paola
dc.contributor.authorGarcía-Moreno, Héctor
dc.contributor.authorGonzález-Robles, Cristina
dc.contributor.authorLima, Manuel
dc.contributor.authorRaposo, Mafalda
dc.contributor.authorVieira Melo, Ana Rosa
dc.contributor.authorPereira de Almeida, Luís
dc.contributor.authorSilva, Patrick
dc.contributor.authorPinto, Maria M.
dc.contributor.authorInfante Ceberio, Jon 
dc.contributor.otherUniversidad de Cantabriaes_ES
dc.date.accessioned2024-02-13T16:39:22Z
dc.date.available2024-02-13T16:39:22Z
dc.date.issued2023
dc.identifier.issn0364-5134
dc.identifier.urihttps://hdl.handle.net/10902/31700
dc.description.abstractSpinocerebellar ataxia type 3/Machado-Joseph disease is the most common autosomal dominant ataxia. In view of the development of targeted therapies, knowledge of early biomarker changes is needed. We analyzed cross-sectional data of 292 spinocerebellar ataxia type 3/Machado-Joseph disease mutation carriers. Blood concentrations of mutant ATXN3 were high before and after ataxia onset, whereas neurofilament light deviated from normal 13.3 years before onset. Pons and cerebellar white matter volumes decreased and deviated from normal 2.2 years and 0.6 years before ataxia onset. We propose a staging model of spinocerebellar ataxia type 3/Machado-Joseph disease that includes a biomarker stage characterized by objective indicators of neurodegeneration before ataxia onset. ANN NEUROL 2024;95:400-406es_ES
dc.description.sponsorshipT.K., M.S., L.S., J.I., and B.vdW. are members of the European Reference Network for Rare Neurological Diseases (ERN-RD, project number 739510). The ESMI consortium acknowledges Ruth Hossinger for the project management of the ESMI project and for all contributions made toward the success of this project. This publication is an outcome of ESMI, an EU Joint Program – Neurodegenerative Disease Research (JPND) project (see www.jpnd.eu). The project is supported through the following funding organisations under the aegis of JPND: Germany, Federal Ministry of Education and Research (BMBF; funding codes 01ED1602A/B); Netherlands, The Netherlands Organization for Health Research and Development; Portugal, Fundaçao para a Ciência e Tecnologia (funding code JPCOFUND/ 0002/2015); United Kingdom, Medical Research Council (MR/N028767/1). This project has received funding from the European Union’s Horizon 2020 research and innovation program under grant agreement No. 643417. The Azores ESMI Network is currently supported by the Regional Government (Fundo Regional para a Ciência e a Tecnologia-FRCT), under the PRO-SCIENTIA program. At the USA sites, this work was in part supported by the National Ataxia Foundation and the National Institute of Neurological Disorders and Stroke (NINDS) grant R01NS080816. The Center for Magnetic Resonance Research is supported by the National Institute of Biomedical Imaging and Bioengineering (NIBIB) grant P41 EB027061, the Institutional Center Cores for Advanced Neuroimaging award P30 NS076408 and S10 OD017974 grant. T.K. received research support from the Bundesministerium für Bildung und Forschung (BMBF), the National Institutes of Health (NIH) and Servier. J.F. received funding as a Fellow of the Hertie Network of Excellence in Clinical Neuroscience. M.R. is supported by FCT (CEECIND/03018/2018). B.vdW. received funding from ZonMw, NWO, Gossweiler Foundation, Brugling Fonds, Radboudumc, Hersenstichting, and Christina Foundation. C.O. received funding from NINDS #U01 NS104326; the National Ataxia Foundation; and Robert and Nancy Hall Brain Research Fund. J.S. is supported in part by the National Ataxia Foundation, the Raynor Cerebellum Project, and the MINDlink Foundation. J.J. received grant support from NIH and Friedrich’s Ataxia Research Alliance (FARA). A.T. received research grants from the University Medicine Essen Clinician Scientist Academy (UMEA)/Deutsche Forschungsgemeinschaft (DFG, grant number: FU356/12-2). At the Portuguese sites, M.M.S. and L.P-A. received funding from European Regional Development Fund (ERDF), through the Centro 2020 Regional Operational Program, and through the COMPETE 2020 – Operational Program for Competitiveness and Internationalization; and Portuguese national funds via FCT – Fundaçao para a Ciência e a Tecnologia, under the projects: CENTRO-01-0145-FEDER-181240, 2022.06118.PTDC, UIDB/04539/2020, UIDP/04539/2020, LA/P/0058/2020, ViraVector (CENTRO-01-0145-FEDER-022095), Fighting Sars-CoV-2 (CENTRO-01-01D2-FEDER-000002), BDforMJD (CENTRO-01-0145-FEDER-181240 & 2022.06118.PTDC), ModelPolyQ2.0 (CENTRO-01-0145- FEDER-181258), and MJDEDIT (CENTRO-01-0145- FEDER-181266); ARDAT under the IMI2 JU Grant agreement No 945473 supported by the European Union’s H2020 program and EFPIA; by the American Portuguese Biomedical Research Fund (APBRF), National Ataxia Foundation, and the Richard Chin and Lily Lock Machado-Joseph Disease Research Fund. P.S. and M.M.P. were supported by FCT under the fellowship grant SFRH/BD/148451/2019, and 2019 and 2022.11089.BD. C.W. was supported by the Clinician Scientist Program of the Medical Faculty Tübingen (480-0-0). P.G. is supported by the National Institute for Health Research University College London Hospitals Biomedical Research Center UCLH. P.G. also receives support from the North Thames CRN. P.G. and H.G-M work at University College London Hospitals/University College London, which receives a proportion of funding from the Department of Health’s National Institute for Health Research Biomedical Research Center’s funding scheme. P.G. received funding from the Medical Research Council (MR/N028767/1) and CureSCA3 in support of H.G-M’s work.es_ES
dc.format.extent7 p.es_ES
dc.language.isoenges_ES
dc.publisherWiley-Lisses_ES
dc.rights© 2023 The Authors. Annals of Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association. 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.es_ES
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.sourceAnnals of Neurology, 2023, 95(2), 400-406es_ES
dc.titleStage-dependent biomarker changes in spinocerebellar ataxia type 3es_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.relation.publisherVersionhttps://doi.org/10.1002/ana.26824es_ES
dc.rights.accessRightsopenAccesses_ES
dc.identifier.DOI10.1002/ana.26824
dc.type.versionpublishedVersiones_ES


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© 2023 The Authors. Annals of Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association. 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.Excepto si se señala otra cosa, la licencia del ítem se describe como © 2023 The Authors. Annals of Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association. 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.