{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T19:37:59Z","timestamp":1793993879123,"version":"4.8.0"},"reference-count":46,"publisher":"Wiley","issue":"17","license":[{"start":{"date-parts":[[2021,7,27]],"date-time":"2021-07-27T00:00:00Z","timestamp":1627344000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Spinal muscular atrophy (SMA) is a genetic neurodegenerative disorder leading to immobilization and premature death. Currently, three alternative therapeutic options are available. Therefore, biomarkers that might reflect or predict the clinical course of the individual patient with treatment are of great potential use. Currently, the antisense oligonucleotide nusinersen is the prevalent and longest validated therapy for SMA. We analysed CSF candidate biomarkers for degenerative CNS processes (namely phosphorylated heavy chain (pNf\u2010H), light\u2010chain neurofilaments (NfL), total tau protein (T\u2010Tau), neurogranin, \u03b2\u2010secretase BACE\u20101 and alpha\u2010synuclein) in 193 CSF samples of 44 paediatric SMA types 1, 2 and 3\u00a0patients before and under nusinersen treatment and related them to standardized clinical outcome scores in a single\u2010centre pilot study. pNf\u2010H and NfL correlated with disease severity and activity, emphasizing their relevance as marker of neuronal loss and clinical outcome. T\u2010Tau was significantly correlated with motor function scores in SMA type 1\u00a0making it an interesting marker for treatment response. Additionally, baseline T\u2010Tau levels were elevated in most SMA patients possibly reflecting the extension of neuronal degeneration in paediatric\u2010onset SMA. Further investigations of these CSF proteins might be beneficial for paediatric SMA subtypes and treatment modalities as an indicator for clinical outcome and should be analysed in larger cohorts.<\/jats:p>","DOI":"10.1111\/jcmm.16802","type":"journal-article","created":{"date-parts":[[2021,7,27]],"date-time":"2021-07-27T08:47:02Z","timestamp":1627375622000},"page":"8419-8431","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen"],"prefix":"10.1111","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2095-3891","authenticated-orcid":false,"given":"Jessika","family":"Johannsen","sequence":"first","affiliation":[{"name":"Department of Pediatrics University Medical Center Hamburg\u2010Eppendorf Hamburg 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