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Stage-dependent biomarker changes in spinocerebellar ataxia type 3

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

 Autoría: Faber J., Berger M., Wilke C., Hubener-Schmid J., Schaprian T., Santana M.M., Grobe-Einsler M., Onder D., Koyak B., Giunti P., Garcia-Moreno H., Gonzalez-Robles C., Lima M., Raposo M., Melo A.R.V., de Almeida L.P., Silva P., Pinto M.M., van de Warrenburg B.P., van Gaalen J., de Vries J., Oz G., Joers J.M., Synofzik M., Schols L., Riess O., Infante J., Manrique L., Timmann D., Thieme A., Jacobi H., Reetz K., Dogan I., Onyike C.,

 Fuente: Annals of Neurology, 2023, 95(2), 400-406

Editorial: Wiley-Liss

 Año de publicación: 2023

Nº de páginas: 7

Tipo de publicación: Artículo de Revista

 DOI: 10.1002/ana.26824

ISSN: 0364-5134

Url de la publicación: https://doi.org/10.1002/ana.26824

Autoría

FABER, JENNIFER

BERGER, MORITZ

WILKE, CARLO

HUBENER-SCHMID, JEANNETTE

SCHAPRIAN, TAMARA

SANTANA, MAGDA M.

GROBE-EINSLER, MARCUS

ONDER, DEMET

KOYAK, BERKAN

GIUNTI, PAOLA

GARCÍA-MORENO, HÉCTOR

GONZÁLEZ-ROBLES, CRISTINA

LIMA, MANUEL

RAPOSO, MAFALDA

VIEIRA MELO, ANA ROSA

PEREIRA DE ALMEIDA, LUÍS

SILVA, PATRICK

PINTO, MARIA M.