Increase of Plasma Biomarkers in Friedreich's Ataxia: Potential Insights into Disease Pathology
NfL is a sensitive biomarker in early FRDA but decreases with age, converging with control values after 35-40 years. This age-dependent pattern must be considered when interpreting the effect of interventions in clinical trials. Especially in younger (age < 10 years) or presymptomatic patients and control subjects, additional longitudinal sampling is warranted. Elevated tau levels suggest involvement in underlying disease pathophysiology. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Authors
- Héctor García‐Moreno (ORCID: https://orcid.org/0000-0002-0697-3271)
- Rosella Abeti (ORCID: https://orcid.org/0000-0001-9817-8779)
- David R. Lynch (ORCID: https://orcid.org/0000-0001-7168-214X)
- Christian Rummey (ORCID: https://orcid.org/0000-0003-4911-911X)
- Gilbert Thomas‐Black (ORCID: https://orcid.org/0000-0002-4410-8772)
- Paola Giunti (ORCID: https://orcid.org/0000-0003-3508-4788)
- Amanda Heslegrave (ORCID: https://orcid.org/0000-0002-7290-6405)
- Henrik Zetterberg (ORCID: https://orcid.org/0000-0003-3930-4354)
- Huseyin Arisoy (ORCID: https://orcid.org/0000-0002-1568-3356)
Institutions
- Children's Hospital of Philadelphia (US)
- University College London Hospitals NHS Foundation Trust (GB)
- Sahlgrenska University Hospital (SE)
- Swiss Data Science Center (CH)
- UK Dementia Research Institute (GB)
- National Hospital for Neurology and Neurosurgery (GB)
- University College London (GB)
- University of Gothenburg (SE)
Publication Details
- Journal
- Movement Disorders
- Published
- 2025-06-11
- DOI
- https://doi.org/10.1002/mds.30250
- Citations
- 2
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- Friedreich's Ataxia Research Alliance
- National Institute for Health and Care Research
- University College London
- European Commission
- Vetenskapsrådet
- Deutsches Zentrum für Neurodegenerative Erkrankungen
- RWTH Aachen University
- University College London Hospitals NHS Foundation Trust
- UK Dementia Research Institute
- Medical Research Council