Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3

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Autores de IDIVAL

  • Jon Infante Ceberio

    Autor

  • Leire Manrique Arregui

    Autor

Autores ajenos al IDIVAL

  • Faber J
  • Berger M
  • Wilke C
  • Hubener-Schmid J
  • Schaprian T
  • Santana MM
  • Grobe-Einsler M
  • Onder D
  • Koyak B
  • Giunti P
  • Garcia-Moreno H
  • Gonzalez-Robles C
  • Lima M
  • Raposo M
  • Melo ARV
  • Pereira de Almeida L
  • Silva P
  • Pinto MM
  • van de Warrenburg BP
  • van Gaalen J
  • de Vries J
  • Oz G
  • Joers JM
  • Synofzik M
  • Schols L
  • Riess O
  • Timmann D
  • Thieme A
  • Jacobi H
  • Reetz K
  • Dogan I
  • Onyike C
  • Povazan M
  • Schmahmann J
  • Ratai EM
  • Schmid M
  • Klockgether T

Unidades

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 2023

© 2023 The Authors. Annals of Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.

Datos de la publicación

ISSN/ISSNe:
0364-5134, 1531-8249

ANNALS OF NEUROLOGY  WILEY-BLACKWELL

Tipo:
Article
Páginas:
400-406
PubMed:
37962377

Citas Recibidas en Web of Science: 8

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