Stage-dependent biomarker changes in spinocerebellar ataxia type 3
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 c...
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| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) Editorial |
| Sprache: | Englisch |
| Veröffentlicht: |
February 2024
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| In: |
Annals of neurology
Year: 2024, Jahrgang: 95, Heft: 2, Pages: 400-406 |
| ISSN: | 1531-8249 |
| DOI: | 10.1002/ana.26824 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1002/ana.26824 Verlag, lizenzpflichtig, Volltext: https://www.webofscience.com/api/gateway?GWVersion=2&SrcAuth=DOISource&SrcApp=WOS&KeyAID=10.1002%2Fana.26824&DestApp=DOI&SrcAppSID=EUW1ED0C742HormR9XgQxkdegByjF&SrcJTitle=ANNALS+OF+NEUROLOGY&DestDOIRegistrantName=Wiley+%28John+Wiley+%26+Sons%29 
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| Verfasserangaben: | Jennifer Faber, MD, Moritz Berger, PhD, Carlo Wilke, MD, Jeannette Hubener-Schmid, PhD, Tamara Schaprian, MSc, Magda M. Santana, PhD, Marcus Grobe-Einsler, MD, Demet Onder, MD, Berkan Koyak, MD, Paola Giunti, MD, Hector Garcia-Moreno, MD, Cristina Gonzalez-Robles, MD, Manuela Lima, PhD, Mafalda Raposo, PhD, Ana Rosa Vieira Melo, MSc, Luís Pereira de Almeida, PhD, Patrick Silva, MSc, Maria M. Pinto, MSc, Bart P. van de Warrenburg, MD, PhD, Judith van Gaalen, MD, Jeroen de Vries, MD, Gulin Oz, PhD, James M. Joers, PhD, Matthis Synofzik, MD, Ludger Schols, MD, Olaf Riess, MD, Jon Infante, MD, Leire Manrique, MD, Dagmar Timmann, MD,Andreas Thieme, MD, Heike Jacobi, MD, Kathrin Reetz, MD, Imis Dogan, PhD, Chiadikaobi Onyike, MD, Michal Povazan, PhD, Jeremy Schmahmann, MD, Eva-Maria Ratai, PhD, Matthias Schmid, PhD, and Thomas Klockgether, MD |
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| 245 | 1 | 0 | |a Stage-dependent biomarker changes in spinocerebellar ataxia type 3 |c Jennifer Faber, MD, Moritz Berger, PhD, Carlo Wilke, MD, Jeannette Hubener-Schmid, PhD, Tamara Schaprian, MSc, Magda M. Santana, PhD, Marcus Grobe-Einsler, MD, Demet Onder, MD, Berkan Koyak, MD, Paola Giunti, MD, Hector Garcia-Moreno, MD, Cristina Gonzalez-Robles, MD, Manuela Lima, PhD, Mafalda Raposo, PhD, Ana Rosa Vieira Melo, MSc, Luís Pereira de Almeida, PhD, Patrick Silva, MSc, Maria M. Pinto, MSc, Bart P. van de Warrenburg, MD, PhD, Judith van Gaalen, MD, Jeroen de Vries, MD, Gulin Oz, PhD, James M. Joers, PhD, Matthis Synofzik, MD, Ludger Schols, MD, Olaf Riess, MD, Jon Infante, MD, Leire Manrique, MD, Dagmar Timmann, MD,Andreas Thieme, MD, Heike Jacobi, MD, Kathrin Reetz, MD, Imis Dogan, PhD, Chiadikaobi Onyike, MD, Michal Povazan, PhD, Jeremy Schmahmann, MD, Eva-Maria Ratai, PhD, Matthias Schmid, PhD, and Thomas Klockgether, MD |
| 246 | 3 | 3 | |a Stage-dependent biomarker changes in spinocerebellar ataxia type three |
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| 500 | |a Online veröffentlicht: 14 November 2023 | ||
| 500 | |a Gesehen am 05.02.2024 | ||
| 520 | |a 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 2023 | ||
| 700 | 1 | |a Berger, Moritz |e VerfasserIn |4 aut | |
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