Stage-dependent biomarker changes in spinocerebellar ataxia type 3

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URI: https://hdl.handle.net/10902/31700
ISSN: 0364-5134
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Autoría
Faber, Jennifer; Berger, Moritz; Wilke, Carlo; Hubener-Schmid, Jeannette; Schaprian, Tamara; Santana, Magda M.; Grobe-Einsler, Marcus; Onder, Demet; Koyak, Berkan; Giunti, Paola; García-Moreno, Héctor; González-Robles, Cristina; Lima, Manuel; Raposo, Mafalda; Vieira Melo, Ana Rosa; Pereira de Almeida, Luís; Silva, Patrick; Pinto, Maria M.; Infante Ceberio, JonAutoridad Unican
Fecha
2023
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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.
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Annals of Neurology, 2023, 95(2), 400-406
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Wiley-Liss
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Resumen/Abstract
Spinocerebellar 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;95:400-406
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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.