@article{discovery10181925,
           pages = {400--406},
         journal = {Annals of Neurology},
           month = {February},
       publisher = {Wiley},
            note = {Copyright {\copyright} 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 (http://creativecommons.org/licenses/by-nc-nd/4.0/), 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.},
           title = {Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3},
          number = {2},
          volume = {95},
            year = {2024},
        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.},
             url = {https://doi.org/10.1002/ana.26824},
          author = {Faber, Jennifer and Berger, Moritz and Wilke, Carlo and Hubener-Schmid, Jeannette and Schaprian, Tamara and Santana, Magda M and Grobe-Einsler, Marcus and Onder, Demet and Koyak, Berkan and Giunti, Paola and Garcia-Moreno, Hector and Gonzalez-Robles, Cristina and Lima, Manuela and Raposo, Mafalda and Melo, Ana Rosa Vieira and Pereira de Almeida, Lu{\'i}s and Silva, Patrick and Pinto, Maria M and van de Warrenburg, Bart P and van Gaalen, Judith and de Vries, Jeroen and Oz, Gulin and Joers, James M and Synofzik, Matthis and Schols, Ludger and Riess, Olaf and Infante, Jon and Manrique, Leire and Timmann, Dagmar and Thieme, Andreas and Jacobi, Heike and Reetz, Kathrin and Dogan, Imis and Onyike, Chiadikaobi and Povazan, Michal and Schmahmann, Jeremy and Ratai, Eva-Maria and Schmid, Matthias and Klockgether, Thomas},
            issn = {0364-5134}
}