{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T03:03:11Z","timestamp":1790046191099,"version":"4.0.1"},"reference-count":38,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T00:00:00Z","timestamp":1773705600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T00:00:00Z","timestamp":1773705600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking. This study evaluated neurofilament light chain (NfL) levels to provide insights into disease activity and outcomes in newborns and children with SMA.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This study correlated pretreatment NfL levels in the serum and cerebrospinal fluid (CSF) in a cross\u2010sectional cohort of individuals with SMA against clinical, neurophysiological, molecular genetic variables, and treatment characteristics. Longitudinal NfL levels were evaluated in individuals that did not immediately commence treatment (governed by Australian reimbursement policies) and in those treated with nusinersen monotherapy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Participants included 45 individuals with SMA (age range\u2009=\u20094\u2009days to 42\u2009years). Pretreatment serum NfL (sNfL) in 2\n                      <jats:italic>SMN2<\/jats:italic>\n                      copy neonates were significantly higher (2\n                      <jats:italic>SMN2<\/jats:italic>\n                      , mean[SE] 680.9 [163.7]; \u2265\u20093\n                      <jats:italic>SMN2<\/jats:italic>\n                      146.9 [59.8] pg\/ml,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.01), correlating with increasing post\u2010natal age (2\n                      <jats:italic>SMN2 r<\/jats:italic>\n                      [12] =\u20090.75,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.005). Combining sNfL and compound muscle action potential (CMAP) with pretreatment CHOP\u2010INTEND in a regression model provided a stronger prediction of motor outcomes for neonates at 2\u2009years (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.02). Pretreatment sNfL in infants with \u22653\n                      <jats:italic>SMN2<\/jats:italic>\n                      copies who did not initiate immediate treatment increased despite motor function remaining stable.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>\n                      There is a malignant disease course with active denervation in children with 2\n                      <jats:italic>SMN2<\/jats:italic>\n                      copies within the neonatal period. sNfL gives early insights into underlying pathophysiology prior to a clinical phenotype and may expedite access to the initiation of treatment. ANN NEUROL 2026;100:109\u2013122\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ana.78207","type":"journal-article","created":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T04:13:00Z","timestamp":1773807180000},"page":"109-122","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy"],"prefix":"10.1002","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6265-3053","authenticated-orcid":false,"given":"Arlene","family":"D'Silva","sequence":"first","affiliation":[{"name":"Department of Neurology Sydney Children's Hospital Network  Sydney New South Wales Australia"},{"name":"School of Clinical Medicine University of New South Wales Medicine and Health, UNSW Sydney  Sydney New South Wales 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