Frataxin levels were significantly reduced in patients and correlated with GAA1 length and baseline severity. SARA, FARS–ADL, and INAS worsened significantly over time, while SCAFI and CCFS remained stable. GAA1 length and baseline SARA score emerged as the strongest predictors of progression. CSF NfL was elevated in younger patients and declined with age but did not correlate with severity or progression. These results support GAA1 length and baseline clinical status as robust predictors of progression and suggest limited utility of CSF NfL as a longitudinal biomarker particularly in later disease stages.
Sunday, April 12, 2026
Longitudinal analysis shows GAA1 length and baseline clinical status as robust predictors of progression in Friedreich ataxia
Manrique L, Martínez-Dubarbie F, Pelayo-Negro AL, Benitez-Calle N, Sanchez-Pelaez MV, Cota-Gonzalez D, Loza R, Martinez-Díaz R, Irure-Ventura J, Sanchez-Quintana C, Sanchez I, Matilla-Dueñas A, Infante J. Longitudinal analysis shows GAA1 length and baseline clinical status as robust predictors of progression in Friedreich ataxia. J Neurol. 2026 Apr 9;273(5):259. doi: 10.1007/s00415-026-13812-2. PMID: 41954755; PMCID: PMC13065527.
