S J G Veenhuis1, A S Gupta2, C M de Gusmão3, J Thornton4, B Margus4, C Rothblum-Oviatt4, M Otto5, S Halbgebauer5, N J H van Os6, B P C van de Warrenburg7, M M Verbeek8, M A A P Willemsen9. 1. Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: stefanie.veenhuis@radboudumc.nl. 2. Department of Neurology, Massachusetts General Hospital, Harvard Medical School, USA. 3. Department of Neurology, Boston Children's Hospital, Harvard Medical School USA. 4. Ataxia Telangiectasia Children's Project, Coconut Creek, Florida, USA. 5. Department of Neurology, University Clinic Ulm, Ulm, Germany. 6. Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands. 7. Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands; Center of Expertise for Parkinson & Movement Disorders, Radboud University Medical Center, Nijmegen, the Netherlands. 8. Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands; Center of Expertise for Parkinson & Movement Disorders, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, the Netherlands. 9. Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.
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.
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.
Authors: Shanice Beerepoot; Hans Heijst; Birthe Roos; Mirjam M C Wamelink; Jaap Jan Boelens; Caroline A Lindemans; Peter M van Hasselt; Edwin H Jacobs; Marjo S van der Knaap; Charlotte E Teunissen; Nicole I Wolf Journal: Brain Date: 2022-03-29 Impact factor: 15.255