Faber, Jennifer;
Berger, Moritz;
Wilke, Carlo;
Hubener-Schmid, Jeannette;
Schaprian, Tamara;
Santana, Magda M;
Grobe-Einsler, Marcus;
... Klockgether, Thomas; + view all
(2023)
Stage-dependent biomarker changes in spinocerebellar ataxia type 3.
Annals of Neurology
10.1002/ana.26824.
(In press).
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Stage dependent biomarker changes in spinocerebellar ataxia type 3.pdf - Accepted Version Access restricted to UCL open access staff until 15 November 2024. Download (2MB) |
Abstract
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3) 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 SCA3 mutation carriers. Blood concentrations of mutant ATXN3 were high before and after ataxia onset, while 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 SCA3 that includes a biomarker stage characterized by objective indicators of neurodegeneration before ataxia onset.
| Type: | Article |
|---|---|
| Title: | Stage-dependent biomarker changes in spinocerebellar ataxia type 3 |
| Location: | United States |
| DOI: | 10.1002/ana.26824 |
| Publisher version: | https://doi.org/10.1002/ana.26824 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10181925 |
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