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Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3.
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; de Vries, Jeroen; Oz, Gulin; Joers, James M; Synofzik, Matthis; Schols, Ludger; Riess, Olaf; Infante, Jon; Manrique, Leire; Timmann, Dagmar; Thieme, Andreas; Jacobi, Heike; Reetz, Kathrin; Dogan, Imis; Onyike, Chiadikaobi; Povazan, Michal; Schmahmann, Jeremy; Ratai, Eva-Maria; Schmid, Matthias; Klockgether, Thomas.
Affiliation
  • Faber J; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.
  • Berger M; Department of Neurology, University Hospital Bonn, Bonn, Germany.
  • Wilke C; University of Bonn, Medical Faculty, Institute for Medical Biometry, Informatics, and Epidemiology, Bonn, Germany.
  • Hubener-Schmid J; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  • Schaprian T; Institute for Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
  • Santana MM; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.
  • Grobe-Einsler M; Center for Neuroscience and Cell Biology (CNC), University of Coimbra, Coimbra, Portugal.
  • Onder D; Center for Innovative in Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal.
  • Koyak B; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.
  • Giunti P; Department of Neurology, University Hospital Bonn, Bonn, Germany.
  • Garcia-Moreno H; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.
  • Gonzalez-Robles C; Department of Neurology, University Hospital Bonn, Bonn, Germany.
  • Lima M; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.
  • Raposo M; Department of Neurology, University Hospital Bonn, Bonn, Germany.
  • Melo ARV; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
  • de Almeida LP; Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK.
  • Silva P; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
  • Pinto MM; Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK.
  • van de Warrenburg BP; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
  • van Gaalen J; Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK.
  • de Vries J; Faculdade de Ciências e Tecnologia, Universidade dos Açores, Ponta Delgada, Portugal.
  • Oz G; Faculdade de Ciências e Tecnologia, Universidade dos Açores, Ponta Delgada, Portugal.
  • Joers JM; Instituto de Biologia Molecular e Celular (IBMC), Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, Portugal.
  • Synofzik M; Faculdade de Ciências e Tecnologia, Universidade dos Açores, Ponta Delgada, Portugal.
  • Schols L; Center for Neuroscience and Cell Biology (CNC), University of Coimbra, Coimbra, Portugal.
  • Riess O; Center for Innovative in Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal.
  • Infante J; Center for Neuroscience and Cell Biology (CNC), University of Coimbra, Coimbra, Portugal.
  • Manrique L; Center for Innovative in Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal.
  • Timmann D; Faculty of Pharmacy, University of Coimbra, Coimbra, Portugal.
  • Thieme A; Center for Innovative in Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal.
  • Jacobi H; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
  • Reetz K; Faculty of Pharmacy, University of Coimbra, Coimbra, Portugal.
  • Dogan I; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Onyike C; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Povazan M; Department of Neurology, Rijnstate Hospital, Arnhem, the Netherlands.
  • Schmahmann J; University Medical Center Groningen, Neurology, Groningen, the Netherlands.
  • Ratai EM; Center for Magnetic Resonance Research, Department of Radiology, University of Minnesota, Minneapolis, MN, USA.
  • Schmid M; Center for Magnetic Resonance Research, Department of Radiology, University of Minnesota, Minneapolis, MN, USA.
  • Klockgether T; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Ann Neurol ; 95(2): 400-406, 2024 Feb.
Article de En | MEDLINE | ID: mdl-37962377
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;95400-406.
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Ataxie cérébelleuse / Maladie de Machado-Joseph Limites: Humans Langue: En Journal: Ann Neurol Année: 2024 Type de document: Article Pays d'affiliation: Allemagne
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Ataxie cérébelleuse / Maladie de Machado-Joseph Limites: Humans Langue: En Journal: Ann Neurol Année: 2024 Type de document: Article Pays d'affiliation: Allemagne