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.
Saturday, August 9, 2025
Increase of Plasma Biomarkers in Friedreich's Ataxia: Potential Insights into Disease Pathology
Rummey C, Thomas-Black G, Garcia-Moreno H, Lynch DR, Abeti R, Arisoy H, Heslegrave A, Zetterberg H, Giunti P; European Friedreich's Ataxia Consortium for Translational Studies (EFACTS). Increase of Plasma Biomarkers in Friedreich's Ataxia: Potential Insights into Disease Pathology. Mov Disord. 2025 Jun 11. doi: 10.1002/mds.30250. Epub ahead of print. PMID: 40498047.
