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

• Published in: European journal of paediatric neurology 2021-05, Vol.32, p.93-97
• Main Authors: Veenhuis, S.J.G., Gupta, A.S., de Gusmão, C.M., Thornton, J., Margus, B., Rothblum-Oviatt, C., Otto, M., Halbgebauer, S., van Os, N.J.H., van de Warrenburg, B.P.C., Verbeek, M.M., Willemsen, M.A.A.P.
• Format: Article
• Language: English
• Subjects: Ataxia telangiectasia- A-T mutated (ATM) gene; Blood biomarkers- neurofilaments; Neurofilament light chain
• ISSN: 1090-3798; 1532-2130
• DOI: 10.1016/j.ejpn.2021.04.002

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. •Blood Neurofilament light chain is elevated in patients with Ataxia Telangiectasia.•Patients with classic Ataxia Telangiectasia appear to have higher blood Neuro filament light chain than patients with variant Ataxia Telangiectasia.•Neurofilament light chain is a potential blood (serum/plasma) biomarker in Ataxia Telangiectasia.