application/pdf 810131 bytes 2024 Elsevier B.V. eng ABSTRACT Biomarkers capable of reflecting disease onset and short- and long-term therapeutic effects in individuals with spinal muscular atrophy (SMA) are still an unmet need and phosphorylated neurofilament heavy chain (pNF-H) holds significant promise. We conducted a longitudinal prospective study to evaluate pNF-H levels in the cerebrospinal fluid (CSF) and plasma of 29 individuals with childhood-onset SMA treated with Nuinersen (SMA type 1: n=6, type 2: n=17, type 3: n=6). pNF-H levels before and during treatment were compared with the levels of controls (n=22), patients with Duchenne muscular dystrophy (n=17), myotonic dystrophy type 1 (n=11), untreated SMA individuals with chronic type 3 disease (n=8), and children with presymptomatic SMA (n=3). SMA type 1 showed the highest mean CSF pNF-H levels before treatment initiation. Phosphorylated neurofilament heavy chain in cerebrospinal fluid and plasma in clinically silent and childhood-onset SMA individuals from Serbia https://phaidrabg.bg.ac.rs/o:34916 doi:10.1016/j.nmd.2024.07.600 ISSN: 0960-8966 info:eu-repo/semantics/conferenceProceedings 29th World Muscle Society Congress Prague, Czechia, 2024-Neuromuscular Disorders volume: 43 neurofilament, spinal muscular atrophy, Nuinersen, pNF-H All rights reserved Brkušanin, M. Savić-Pavićević, D. Milić-Rasić, V. Brajušković, G. Stević, Z. Nikolić, D. Dobrijević, Z. Radenković, L. Radovanović, N. Pešović, J. Garai, N. Matijašević Joković, S. Karanović, J. Jovanović, K. Branković-Srećković, V. Kosač, A.