{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T02:34:09Z","timestamp":1793327649761,"version":"4.5.0"},"reference-count":37,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,9,4]],"date-time":"2021-09-04T00:00:00Z","timestamp":1630713600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002957","name":"Technische Universit\u00e4t Dresden","doi-asserted-by":"publisher","award":["MeDDrive 60432"],"award-info":[{"award-number":["MeDDrive 60432"]}],"id":[{"id":"10.13039\/501100002957","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>The aim of this study was to evaluate neurofilament light chain as blood biomarker for disease activity in children and adolescents with different types of spinal muscular atrophy (SMA) and establish pediatric reference values.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We measured neurofilament light chain levels in serum (sNfL) and cerebral spinal fluid (cNfL) of 18 children with SMA and varying numbers of <jats:italic>SMN2<\/jats:italic> copies receiving nusinersen by single\u2010molecule array (SiMoA) assay and analyzed correlations with baseline characteristics and motor development. Additionally, we examined sNfL in 97 neurologically healthy children.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Median sNfL levels in treatment\u2010na\u00efve SMA patients with 2 <jats:italic>SMN2<\/jats:italic> copies are higher than in those with &gt;2 <jats:italic>SMN2<\/jats:italic> copies (<jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00.001) as well as age\u2010matched controls (<jats:italic>P<\/jats:italic>\u00a0=\u00a00.010) and decline during treatment. The median sNfL concentration of healthy controls is 4.73\u00a0pg\/mL with no differences in sex (<jats:italic>P<\/jats:italic>\u00a0=\u00a00.486) but age (<jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00.001). In all children with SMA, sNfL levels correlate strongly with cNfL levels (<jats:italic>r<\/jats:italic>\u00a0=\u00a00.7, <jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00.001). In children with SMA and 2 <jats:italic>SMN2<\/jats:italic> copies, sNfL values correlate with motor function (<jats:italic>r<\/jats:italic>\u00a0=\u00a0\u20130.6, <jats:italic>P<\/jats:italic>\u00a0=\u00a00.134), in contrast to older SMA children with &gt;2 <jats:italic>SMN2<\/jats:italic> copies (<jats:italic>r<\/jats:italic>\u00a0=\u00a0\u20130.1, <jats:italic>P<\/jats:italic>\u00a0=\u00a00.744).<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Reference sNfL values of our large pediatric control cohort may be applied for future studies. Strong correlations between sNfL and cNfL together with motor function suggest that sNfL may be a suitable biomarker for disease activity in children with 2 <jats:italic>SMN2<\/jats:italic> copies and those with &gt;2 <jats:italic>SMN2<\/jats:italic> copies within their initial stages during early childhood.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.51449","type":"journal-article","created":{"date-parts":[[2021,9,5]],"date-time":"2021-09-05T06:04:20Z","timestamp":1630821860000},"page":"2013-2024","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":68,"title":["Serum neurofilament light chain in pediatric spinal muscular atrophy patients and healthy children"],"prefix":"10.1002","volume":"8","author":[{"given":"Elisa","family":"Nitz","sequence":"first","affiliation":[{"name":"Department of Neuropediatrics Medizinische Fakult\u00e4t Technische Universit\u00e4t Dresden Dresden 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