학술논문
Stage‐Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3.
Document Type
Article
Author
Faber, Jennifer; Berger, Moritz; Wilke, Carlo; Hubener‐Schmid, Jeannette; Schaprian, Tamara; Santana, Magda M.; Grobe‐Einsler, Marcus; Onder, Demet; Koyak, Berkan; Giunti, Paola; Garcia‐Moreno, Hector; Gonzalez‐Robles, Cristina; Lima, Manuela; Raposo, Mafalda; Melo, Ana Rosa Vieira; de Almeida, Luís Pereira; Silva, Patrick; Pinto, Maria M.; van de Warrenburg, Bart P.; van Gaalen, Judith
Source
Subject
*CEREBELLUM degeneration
*SPINOCEREBELLAR ataxia
*BIOMARKERS
*WHITE matter (Nerve tissue)
*DISEASE vectors
*ATAXIA
*CYTOPLASMIC filaments
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Language
ISSN
0364-5134
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 [ABSTRACT FROM AUTHOR]