A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia-Reference-Cited by-同舟云学术

A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia

Published:2023-03-29 Issue:2 Volume:49 Page:
ISSN:0305-1846
Container-title:Neuropathology and Applied Neurobiology
language:en
Short-container-title:Neuropathology Appl Neurobio

Author:

Santana Magda M.¹²³,Gaspar Laetitia S.¹²³,Pinto Maria M.¹²⁴,Silva Patrick¹²³⁴,Adão Diana¹²,Pereira Dina¹²³,Ribeiro Joana Afonso⁵,Cunha Inês⁶,Huebener‐Schmid Jeannette⁷⁸,Raposo Mafalda⁹¹⁰,Ferreira Ana F.¹⁰,Faber Jennifer¹¹¹²,Kuhs Sandra¹¹,Garcia‐Moreno Hector¹³¹⁴,Reetz Kathrin¹⁵¹⁶,Thieme Andreas¹⁷¹⁸,Infante Jon¹⁹,van de Warrenburg Bart P. C.²⁰,Giunti Paola¹³¹⁴,Riess Olaf⁷⁸,Schöls Ludger²¹²²,Lima Manuela¹⁰,Klockgether Thomas¹¹¹²,Januário Cristina⁶,de Almeida Luís Pereira¹²⁴,

Affiliation:

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

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

3. Institute for Interdisciplinary Research University of Coimbra (IIIUC) Coimbra Portugal

4. Faculty of Pharmacy University of Coimbra (FFUC) Coimbra Portugal

5. Neurology Department, Child Development Centre Coimbra's Hospital and University Centre (CHUC) Coimbra Portugal

6. Department of Neurology Coimbra University Hospital Center (CHUC) Coimbra Portugal

7. Institute of Medical Genetics and Applied Genomics University of Tübingen Tübingen Germany

8. Centre for Rare Diseases University of Tübingen Tübingen Germany

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

10. Faculdade de Ciências e Tecnologia (FCT) Universidade dos Açores (UAc) Ponta Delgada Portugal

11. DZNE, German Center for Neurodegenerative Diseases Bonn Germany

12. Department of Neurology University Hospital Bonn Bonn Germany

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

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

15. Department of Neurology RWTH Aachen University Aachen Germany

16. JARA‐BRAIN Institute Molecular Neuroscience and Neuroimaging Forschungszentrum Jülich GmbH and RWTH Aachen University Aachen Germany

17. Department of Neurology Essen University Hospital Essen Germany

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

19. Service of Neurology University Hospital Marqués de Valdecilla (IDIVAL), University of Cantabria (UC), Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) Santander Spain

20. Department of Neurology, Radboud University Medical Centre Donders Institute for Brain, Cognition and Behaviour Nijmegen The Netherlands

21. Department of Neurodegenerative Diseases and Hertie‐Institute for Clinical Brain Research University of Tübingen Tübingen Germany

22. German Centre for Neurodegenerative Diseases (DZNE) Tübingen Germany

Abstract

AbstractThe European Spinocerebellar Ataxia Type 3/Machado‐Joseph Disease Initiative (ESMI) is a consortium established with the ambition to set up the largest European longitudinal trial‐ready cohort of Spinocerebellar Ataxia Type 3/Machado‐Joseph Disease (SCA3/MJD), the most common autosomal dominantly inherited ataxia worldwide. A major focus of ESMI has been the identification of SCA3/MJD biomarkers to enable future interventional studies. As biosample collection and processing variables significantly impact the outcomes of biomarkers studies, biosampling procedures standardisation was done previously to study visit initiation. Here, we describe the ESMI consensus biosampling protocol, developed within the scope of ESMI, that ultimately might be translated to other neurodegenerative disorders, particularly ataxias, being the first step to protocol harmonisation in the field.

Funder

European Commission

Fundação para a Ciência e a Tecnologia

Fundo Regional para a Ciência e Tecnologia

Bundesministerium für Bildung und Forschung

ZonMw

Medical Research Council

Horizon 2020 Framework Programme

National Ataxia Foundation

National Institute for Health and Care Research

UCLH Biomedical Research Centre

University College London

Department of Health and Aged Care, Australian Government

Publisher

Wiley

Subject

Physiology (medical),Neurology (clinical),Neurology,Histology,Pathology and Forensic Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/nan.12892

Reference43 articles.

1. Pathogenesis of SCA3 and implications for other polyglutamine diseases

2. Toward understanding Machado–Joseph disease