biostudies-literatureBeerepoot SNCI NIH HHSHealth Holland, the Dutch Research Council (ZonMW), Alzheimer Drug Discovery Foundation, The Selfridges Group Foundation, Alzheimer Netherlands and the Alzheimer AssociationDutch charity organization MetakidsMarie Curie International Training NetworkEuropean Commission105-118https://www.ebi.ac.uk/biostudies/studies/S-EPMC8967093biostudies-literatureUnknown145(1)Metachromatic leukodystrophy is a lethal metabolic leukodystrophy, with emerging treatments for early disease stages. Biomarkers to measure disease activity are required for clinical assessment and treatment follow-up. This retrospective study compared neurofilament light chain and glial fibrillary acidic protein (GFAP) levels in CSF (n = 11) and blood (n = 92) samples of 40 patients with metachromatic leukodystrophy (aged 0-42 years) with 38 neurologically healthy children (aged 0-17 years) and 38 healthy adults (aged 18-45 years), and analysed the associations between these levels with clinical phenotype and disease evolution in untreated and transplanted patients. Metachromatic leukodystrophy subtype was determined based on the (expected) age of symptom onset. Disease activity was assesBrain : a journal of neurologyNeurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy.PMC8967093P30 CA008748860197 (MIRIADE) and JPNDvan Hasselt PMvan der Knaap MSWolf NIHeijst HBoelens JJBeerepoot SLindemans CAJacobs EHRoos BWamelink MMCTeunissen CEfalseNeurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy.Metachromatic leukodystrophy is a lethal metabolic leukodystrophy, with emerging treatments for early disease stages. Biomarkers to measure disease activity are required for clinical assessment and treatment follow-up. This retrospective study compared neurofilament light chain and glial fibrillary acidic protein (GFAP) levels in CSF (n = 11) and blood (n = 92) samples of 40 patients with metachromatic leukodystrophy (aged 0-42 years) with 38 neurologically healthy children (aged 0-17 years) and 38 healthy adults (aged 18-45 years), and analysed the associations between these levels with clinical phenotype and disease evolution in untreated and transplanted patients. Metachromatic leukodystrophy subtype was determined based on the (expected) age of symptom onset. Disease activity was asses2022-01-01T00:00:00Z2022 Mar2026-05-31T06:01:42.811Z2025-02-19T01:54:48.435ZS-EPMC89670933439822310.1093/brain/awab304