Neurofilaments in cerebrospinal fluid and/or serum as a possible biomarker of pediatric spinal muscular atrophy.
5 affiliations
- 1Department of Pediatric Neurology, Second Faculty of Medicine, Charles University and Motol and Homolka University Hospital, Prague, Czech Republic.
- 2Department of Pediatric Neurology, University Children's Hospital, University Medical Centre Ljubljana, Slovenia.
- 3Center for Developmental Neuroscience, Medical Faculty, University of Ljubljana, Ljubljana, Slovenia.
- 4Department of Neurology, Second Faculty of Medicine, Charles University and Motol and Homolka University Hospital, Prague, Czech Republic.
- 5Department of Immunology, Second Faculty of Medicine, Charles University and Motol and Homolka University Hospital, Prague, Czech Republic.
Abstract
BackgroundSpinal muscular atrophy (SMA) is a severe, genetically determined neuromuscular disorder characterised by progressive muscle weakness resulting from motor neuron degeneration. Although therapies such as nusinersen have altered disease trajectories, objective biomarkers for treatment monitoring remain lacking. Neurofilament proteins, particularly phosphorylated neurofilament heavy chain (pNFH), are promising candidates for this role.ObjectivesTo evaluate pNFH levels in cerebrospinal fluid (CSF) and serum as potential biomarkers for monitoring treatment response to nusinersen in paediatric patients with SMA.MethodsThis two-center observational study involved 56 SMA patients (types I-III) treated with nusinersen and 30 age-matched controls. pNFH concentrations in CSF and serum were measured at predefined intervals using ELISA kits. Motor function was assessed with CHOP INTEND, HFMSE, or MFM scales at baseline and after 3, 6, and 12 months. Mixed linear regression modeling evaluated changes in neurofilament levels and motor function.ResultsBaseline pNFH levels in both CSF and serum were significantly higher in SMA patients compared to controls. Following nusinersen therapy, pNFH levels decreased significantly in both compartments, especially in the first 6 months. Younger patients had higher initial serum pNFH levels. A significant correlation was found between CSF and serum pNFH concentration. An association between pNFH levels and motor scores was observed.ConclusionspNFH levels in CSF and serum show potential as objective biomarkers for monitoring the initial treatment response in paediatric SMA. Longitudinal changes are more informative than single measurements. Further validation in larger cohorts and using more sensitive methods is warranted.
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BibTeX
@article{kumhera2026neurofilaments,
title = {{Neurofilaments in cerebrospinal fluid and/or serum as a possible biomarker of pediatric spinal muscular atrophy.}},
author = {Markéta Kumhera and Eva Vrsčaj and Tanja Loboda and Damjan Osredkar and Petra Holotová and Marie Rohlenová and Barbora Lauerová and Vanesa Jurášová and Jitka Hanzalová and Markéta Pavlíková and Jana Haberlová},
journal = {Journal of neuromuscular diseases},
year = {2026},
month = oct,
doi = {10.1177/22143602261488135},
url = {https://europepmc.org/article/MED/42891524},
note = {CC BY-NC},
}
RIS
TY - JOUR
TI - Neurofilaments in cerebrospinal fluid and/or serum as a possible biomarker of pediatric spinal muscular atrophy.
AU - Markéta Kumhera
AU - Eva Vrsčaj
AU - Tanja Loboda
AU - Damjan Osredkar
AU - Petra Holotová
AU - Marie Rohlenová
AU - Barbora Lauerová
AU - Vanesa Jurášová
AU - Jitka Hanzalová
AU - Markéta Pavlíková
AU - Jana Haberlová
PY - 2026
DA - 2026/10/17
JO - Journal of neuromuscular diseases
DO - 10.1177/22143602261488135
UR - https://europepmc.org/article/MED/42891524
AB - BackgroundSpinal muscular atrophy (SMA) is a severe, genetically determined neuromuscular disorder characterised by progressive muscle weakness resulting from motor neuron degeneration. Although therapies such as nusinersen have altered disease trajectories, objective biomarkers for treatment monitoring remain lacking. Neurofilament proteins, particularly phosphorylated neurofilament heavy chain (pNFH), are promising candidates for this role.ObjectivesTo evaluate pNFH levels in cerebrospinal fluid (CSF) and serum as potential biomarkers for monitoring treatment response to nusinersen in paediatric patients with SMA.MethodsThis two-center observational study involved 56 SMA patients (types I-III) treated with nusinersen and 30 age-matched controls. pNFH concentrations in CSF and serum were measured at predefined intervals using ELISA kits. Motor function was assessed with CHOP INTEND, HFMSE, or MFM scales at baseline and after 3, 6, and 12 months. Mixed linear regression modeling evaluated changes in neurofilament levels and motor function.ResultsBaseline pNFH levels in both CSF and serum were significantly higher in SMA patients compared to controls. Following nusinersen therapy, pNFH levels decreased significantly in both compartments, especially in the first 6 months. Younger patients had higher initial serum pNFH levels. A significant correlation was found between CSF and serum pNFH concentration. An association between pNFH levels and motor scores was observed.ConclusionspNFH levels in CSF and serum show potential as objective biomarkers for monitoring the initial treatment response in paediatric SMA. Longitudinal changes are more informative than single measurements. Further validation in larger cohorts and using more sensitive methods is warranted.
SN - 2214-3599
SN - 2214-3602
ER -