Stage‐Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3-Reference-Cited by-同舟云学术

Stage‐Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3

Published:2023-12-05 Issue:2 Volume:95 Page:400-406
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Annals of Neurology

Author:

Faber Jennifer¹²^ORCID,Berger Moritz³,Wilke Carlo⁴^ORCID,Hubener‐Schmid Jeannette⁵^ORCID,Schaprian Tamara¹,Santana Magda M.⁶⁷,Grobe‐Einsler Marcus¹²,Onder Demet¹²,Koyak Berkan¹²,Giunti Paola⁸⁹,Garcia‐Moreno Hector⁸⁹,Gonzalez‐Robles Cristina⁸⁹,Lima Manuela¹⁰,Raposo Mafalda¹⁰¹¹,Melo Ana Rosa Vieira¹⁰,de Almeida Luís Pereira⁶⁷^ORCID,Silva Patrick⁶⁷¹²,Pinto Maria M.⁷⁸¹²,van de Warrenburg Bart P.¹³,van Gaalen Judith¹³¹⁴,de Vries Jeroen¹⁵,Oz Gulin¹⁶^ORCID,Joers James M.¹⁶,Synofzik Matthis⁴¹⁷^ORCID,Schols Ludger⁴¹⁷,Riess Olaf⁵,Infante Jon¹⁸¹⁹,Manrique Leire¹⁸,Timmann Dagmar²⁰,Thieme Andreas²⁰,Jacobi Heike²¹^ORCID,Reetz Kathrin²²²³^ORCID,Dogan Imis²²²³,Onyike Chiadikaobi²⁴,Povazan Michal²⁵,Schmahmann Jeremy²⁶,Ratai Eva‐Maria²⁷,Schmid Matthias¹³,Klockgether Thomas¹²

Affiliation:

1. German Center for Neurodegenerative Diseases (DZNE) Bonn Germany

2. Department of Neurology University Hospital Bonn Bonn Germany

3. University of Bonn, Medical Faculty, Institute for Medical Biometry, Informatics, and Epidemiology Bonn Germany

4. German Center for Neurodegenerative Diseases (DZNE) Tübingen Germany

5. Institute for Medical Genetics and Applied Genomics University of Tuebingen Tuebingen Germany

6. Center for Neuroscience and Cell Biology (CNC) University of Coimbra Coimbra Portugal

7. Center for Innovative in Biomedicine and Biotechnology (CIBB) University of Coimbra Coimbra Portugal

8. Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology University College London London UK

9. Department of Neurogenetics, National Hospital for Neurology and Neurosurgery University College London Hospitals NHS Foundation Trust London UK

10. Faculdade de Ciências e Tecnologia, Universidade dos Açores Ponta Delgada Portugal

11. Instituto de Biologia Molecular e Celular (IBMC), Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto Porto Portugal

12. Faculty of Pharmacy University of Coimbra Coimbra Portugal

13. Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour Radboud University Medical Center Nijmegen the Netherlands

14. Department of Neurology Rijnstate Hospital Arnhem the Netherlands

15. University Medical Center Groningen, Neurology Groningen the Netherlands

16. Center for Magnetic Resonance Research, Department of Radiology University of Minnesota Minneapolis MN USA

17. Division Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research & Center of Neurology University of Tübingen Tübingen Germany

18. University Hospital Marqués de Valdecilla‐IDIVAL Santander Spain

19. Centro de investigación biomédica en red de enfermedades neurodegenerativas (CIBERNED), Universidad de Cantabria Santander Spain

20. Department of Neurology and Center for Translational Neuro‐ and Behavioral Sciences (C‐TNBS), University Hospital Essen University of Duisburg‐Essen Duisburg Germany

21. Department of Neurology University Hospital of Heidelberg Heidelberg Germany

22. Department of Neurology RWTH Aachen University Aachen Germany

23. JARA‐BRAIN Institute Molecular Neuroscience and Neuroimaging Research Centre Juelich GmbH and RWTH Aachen University Aachen Germany

24. Department of Psychiatry and Behavioral Sciences Johns Hopkins University School of Medicine Baltimore MD USA

25. Johns Hopkins University School of Medicine Baltimore MD USA

26. Ataxia Center, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Massachusetts General Hospital and Harvard Medical School Boston MA USA

27. Massachusetts General Hospital, Department of Radiology A. A. Martinos Center for Biomedical Imaging and Harvard Medical School Charlestown MA USA

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

Funder

EU Joint Programme – Neurodegenerative Disease Research

National Ataxia Foundation

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.26824

Reference21 articles.

1. Machado–Joseph disease/spinocerebellar ataxia type 3

2. Tau and neurofilament light‐chain as fluid biomarkers in spinocerebellar ataxia type 3

3. Polyglutamine‐Expanded Ataxin‐3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood

4. Neurofilament light chain is a promising serum biomarker in spinocerebellar ataxia type 3

5. Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice