Publications & Posters

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

European Journal of Paediatric Neurology | April 8, 2021

Veenhuis SJG, Gupta AS, de Gusmão CM, Thornton J, Margus B, Rothblum-Oviatt C, Otto M, Halbgebauer S, van Os NJH, van de Warrenburg BPC, Verbeek MM and Willemsen MAAP

European Journal of Paediatric Neurology. 2021;32:93-97




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.


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.


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.


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.

This study was performed using the Quanterix HD-1 Analyzer.