{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T22:16:15Z","timestamp":1792793775676,"version":"4.5.0"},"reference-count":53,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2021,8,16]],"date-time":"2021-08-16T00:00:00Z","timestamp":1629072000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Dutch charity organization Metakids"},{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Marie Curie International Training Network","award":["860197 (MIRIADE) and JPND"],"award-info":[{"award-number":["860197 (MIRIADE) and JPND"]}],"id":[{"id":"https:\/\/ror.org\/01y5nr239","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Health Holland, the Dutch Research Council (ZonMW), Alzheimer Drug Discovery Foundation, The Selfridges Group Foundation, Alzheimer Netherlands and the Alzheimer Association"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,3,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>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.<\/jats:p>\n                  <jats:p>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\u201342 years) with 38 neurologically healthy children (aged 0\u201317 years) and 38 healthy adults (aged 18\u201345 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 assessed by measuring gross motor function deterioration and brain MRI. Longitudinal analyses with measurements up to 23 years after diagnosis were performed using linear mixed models.<\/jats:p>\n                  <jats:p>CSF and blood neurofilament light chain and GFAP levels in paediatric controls were negatively associated with age (all P &amp;lt; 0.001). Blood neurofilament light chain level at diagnosis (median, interquartile range; picograms per millilitre) was significantly increased in both presymptomatic (14.7, 10.6\u201356.7) and symptomatic patients (136, 40.8\u2013445) compared to controls (5.6, 4.5\u20137.1), and highest among patients with late-infantile (456, 201\u2013854) or early-juvenile metachromatic leukodystrophy (291.0, 104\u2013445) and those ineligible for treatment based on best practice (291, 57.4\u2013472). GFAP level (median, interquartile range; picogram per millilitre) was only increased in symptomatic patients (591, 224\u20131150) compared to controls (119, 78.2\u2013338) and not significantly associated with treatment eligibility (P = 0.093). Higher blood neurofilament light chain and GFAP levels at diagnosis were associated with rapid disease progression in late-infantile (P = 0.006 and P = 0.051, respectively) and early-juvenile patients (P = 0.048 and P = 0.039, respectively). Finally, blood neurofilament light chain and GFAP levels decreased during follow-up in untreated and transplanted patients but remained elevated compared with controls. Only neurofilament light chain levels were associated with MRI deterioration (P &amp;lt; 0.001).<\/jats:p>\n                  <jats:p>This study indicates that both proteins may be considered as non-invasive biomarkers for clinical phenotype and disease stage at clinical assessment, and that neurofilament light chain might enable neurologists to make better informed treatment decisions. In addition, neurofilament light chain holds promise assessing treatment response. Importantly, both biomarkers require paediatric reference values, given that their levels first decrease before increasing with advancing age.<\/jats:p>","DOI":"10.1093\/brain\/awab304","type":"journal-article","created":{"date-parts":[[2021,8,12]],"date-time":"2021-08-12T15:11:21Z","timestamp":1628781081000},"page":"105-118","source":"Crossref","is-referenced-by-count":47,"title":["Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy"],"prefix":"10.1093","volume":"145","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2945-6784","authenticated-orcid":false,"given":"Shanice","family":"Beerepoot","sequence":"first","affiliation":[{"name":"Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children\u2019s Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands"},{"name":"Center for Translational Immunology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands"},{"name":"Nierkens and Lindemans Group, Princess M\u00e1xima Center for Pediatric Oncology, 3584 CS Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"Heijst","sequence":"additional","affiliation":[{"name":"Neurochemistry Laboratory, Department of Clinical Chemistry, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birthe","family":"Roos","sequence":"additional","affiliation":[{"name":"Metabolic Unit, Department of Clinical Chemistry, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology and Metabolism, 1081 HV Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirjam M C","family":"Wamelink","sequence":"additional","affiliation":[{"name":"Metabolic Unit, Department of Clinical Chemistry, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology and Metabolism, 1081 HV Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaap Jan","family":"Boelens","sequence":"additional","affiliation":[{"name":"Center for Translational Immunology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands"},{"name":"Department of Pediatrics, Stem Cell Transplant and Cellular Therapies, Memorial Sloan Kettering Cancer Center, 10065 New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline A","family":"Lindemans","sequence":"additional","affiliation":[{"name":"Nierkens and Lindemans Group, Princess M\u00e1xima Center for Pediatric Oncology, 3584 CS Utrecht, The Netherlands"},{"name":"Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter M","family":"van Hasselt","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin H","family":"Jacobs","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjo S","family":"van der Knaap","sequence":"additional","affiliation":[{"name":"Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children\u2019s Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands"},{"name":"Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit, 1081 HV Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4061-0837","authenticated-orcid":false,"given":"Charlotte E","family":"Teunissen","sequence":"additional","affiliation":[{"name":"Neurochemistry Laboratory, Department of Clinical Chemistry, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1721-0728","authenticated-orcid":false,"given":"Nicole I","family":"Wolf","sequence":"additional","affiliation":[{"name":"Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children\u2019s Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV Amsterdam, The 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