o:34916 Phosphorylated neurofilament heavy chain in cerebrospinal fluid and plasma in clinically silent and childhood-onset SMA individuals from Serbia Fosforilisani teški lanac neurofilamenta u cerebrospinalnoj tečnosti i plazmi kod bolesnika iz Srbije sa klinički neispoljenom i SMA sa početkom u detinjstvu en 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. neurofilament, spinal muscular atrophy, Nuinersen, pNF-H 1552099 10.1016/j.nmd.2024.07.600 1552101 0960-8966 2024-10-18T08:31:07.053Z 44 yes 46 M. Brkušanin University of Belgrade, Faculty of Biology, Centre for Human Molecular Genetics, Belgrade, Serbia D. Savić-Pavićević University of Belgrade, Faculty of Biology, Centre for Human Molecular Genetics, Belgrade, Serbia person V. Milić-Rasić Clinic for Neurology and Psychiatry for Children and Youth, Belgrade, Serbia person G. Brajušković University of Belgrade, Faculty of Biology, Centre for Human Molecular Genetics, Belgrade, Serbia person Z. Stević University of Belgrade-School of Medicine, Belgrade, Serbia person D. Nikolić University Children's Hospital Tirsova, University Clinical Centre of Serbia, Belgrade, Serbia person Z. Dobrijević University of Belgrade, Institute for the Application of Nuclear Energy INEP, Serbia doktor bioloških nauka person 0000-0002-4652-7719 L. Radenković University of Belgrade, Faculty of Biology, Centre for Human Molecular Genetics, Belgrade, Serbia person N. Radovanović University of Belgrade, Faculty of Biology, Centre for Human Molecular Genetics, Belgrade, Serbia person J. Pešović University of Belgrade, Faculty of Biology, Centre for Human Molecular Genetics, Belgrade, Serbia person N. Garai University of Belgrade, Faculty of Biology, Centre for Human Molecular Genetics, Belgrade, Serbia person S. Matijašević Joković University of Belgrade, Faculty of Biology, Centre for Human Molecular Genetics, Belgrade, Serbia person J. Karanović University of Belgrade, Faculty of Biology, Centre for Human Molecular Genetics, Belgrade, Serbia person K. Jovanović University Children's Hospital Tirsova, University Clinical Centre of Serbia, Belgrade, Serbia person V. Branković-Srećković Clinic for Neurology and Psychiatry for Children and Youth, Belgrade, Serbia person A. Kosač Clinic for Neurology and Psychiatry for Children and Youth, Belgrade, Serbia person application/pdf 810131 https://phaidrabg.bg.ac.rs/o:34916 no yes 1 70 92000004 11A02 11A29 11A2905 11A32 29th World Muscle Society Congress Prague, Czechia, 2024-Neuromuscular Disorders 43 Elsevier B.V. 2024