Neurofilament light chain: A novel blood biomarker in patients with ataxia telangiectasia

Eur J Paediatr Neurol. 2021 May:32:93-97. doi: 10.1016/j.ejpn.2021.04.002. Epub 2021 Apr 9.

Abstract

Aim: Neurofilament light chain (NfL) is recognized as a blood biomarker in several neurodegenerative disorders, but its possible relevance in Ataxia Telangiectasia (A-T) has not been examined. The aim of this study was to investigate the biomarker potential of blood NfL concentrations in patients with A-T.

Method: Blood (serum/plasma) NfL concentrations were measured in a Dutch and an American cohort of patients with A-T and compared to control values. Additionally, correlations between NfL concentrations and disease phenotype (classic versus variant A-T) were studied.

Results: In total 40 (23 Dutch and 17 American) patients with A-T (32 patients with classic A-T and 7 patients with variant A-T) and 17 age- and gender-matched (to the American cohort) healthy controls were included in this study. Blood (serum/plasma) NfL concentrations in patients with classic A-T and age ≤ 12 years were elevated compared to age matched controls. Patients with classic A-T > 12 years also had higher blood (serum/plasma) NfL concentrations (here: compared to age-dependent reference values found in the literature). Patients with classic A-T had higher blood (serum/plasma) NfL concentrations than patients with the variant phenotype.

Conclusion: Blood (serum/plasma) NfL concentrations are elevated in patients with classic A-T and appear to correlate with the disease phenotype (classic versus variant). Therefore, blood (serum/plasma) NfL may be a promising biomarker in A-T.

Keywords: Ataxia telangiectasia- A-T mutated (ATM) gene; Blood biomarkers- neurofilaments; Neurofilament light chain.

MeSH terms

  • Adolescent
  • Adult
  • Ataxia Telangiectasia / blood*
  • Biomarkers / blood*
  • Child
  • Child, Preschool
  • Cohort Studies
  • Female
  • Humans
  • Intermediate Filaments
  • Male
  • Middle Aged
  • Neurofilament Proteins / blood*
  • Young Adult

Substances

  • Biomarkers
  • Neurofilament Proteins