Prof. Dr. Matthias Schmid
Institute of medical Biometry, Computer Science and Epidemiologysekretariat@imbie.uni-bonn.de View member: Prof. Dr. Matthias Schmid
Annals of neurology
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. This article is protected by copyright. All rights reserved.
This article is protected by copyright. All rights reserved.