ArticleAnnals of clinical and translational neurology2021
Serum neurofilament light chain in pediatric spinal muscular atrophy patients and healthy children.
Article in Annals of clinical and translational neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
45 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.
- Usefulness of serum neurofilament light in the assessment of neurologic outcome in the pediatric population: a systematic literature review.European journal of pediatrics · 2023Pooled it
- The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy.Annals of neurology · 2026Article
- Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.Journal of neuromuscular diseases · 2026Article
- Elective preterm birth for earlier spinal muscular atrophy treatment.Molecular therapy. Advances · 2026Article
- Pilot Study of Fingolimod Treatment in Neuronal Ceroid Lipofuscinosis Type 1.Neurology. Genetics · 2026Article
- Neurofilament light chain but not glial fibrillary acidic protein serum levels are elevated in Wolfram syndrome.Frontiers in neuroscience · 2026Review
- Plasma glial fibrillary acidic protein (GFAP) is a biomarker for central nervous system involvement in infantile-onset Pompe disease.EBioMedicine · 2026Article
- Advancing personalized spinal muscular atrophy care: matching the right biomarker to the right patient at the right time.Journal of neurology · 2025Review
- Trends in clinical studies evaluating neurofilament light chain as a biomarker.Biomarkers in medicine · 2025Article
- Application of Biomarkers in Spinal Muscular Atrophy.International journal of molecular sciences · 2025Review
- Clinical use and reporting of neurofilament quantification in neurological disorders: A global overview.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Cerebrospinal fluid biomarkers of efficacy in patients affected by spinal muscular atrophy type 1 treated with nusinersen.Acta neurologica Belgica · 2025Article
- Neurofilament light chain as a biomarker to indicate early activation of cerebral disease in boys with adrenoleukodystrophy.Communications medicine · 2025Article
- High Expression of SMN circ4-2b-3 in SMA I Children Treated with Nusinersen is Associated with Improved Motor Outcomes.Molecular neurobiology · 2025Article
- Long-Term Dynamics of CSF and Serum Neurofilament Light Chain in Adult Patients With 5q Spinal Muscular Atrophy Treated With Nusinersen.Neurology · 2025Article
- Neurofilament light chain (Nf-L) in cerebrospinal fluid and serum as a potential biomarker in the differential diagnosis of neurological diseases in cattle.Veterinary research · 2025Article
- Cytoskeleton dysfunction of motor neuron in spinal muscular atrophy.Journal of neurology · 2024Review
- Emerging Trends: Neurofilament Biomarkers in Precision Neurology.Neurochemical research · 2024Review
- Peripheral defects precede neuromuscular pathology in theJournal of neuromuscular diseases · 2024Article
- The Relevance of Spinal Muscular Atrophy Biomarkers in the Treatment Era.Biomedicines · 2024Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
objectiveThe aim of this study was to evaluate neurofilament light chain as blood biomarker for disease activity in children and adolescents with different types of spinal muscular atrophy (SMA) and establish pediatric reference values.
methodsWe measured neurofilament light chain levels in serum (sNfL) and cerebral spinal fluid (cNfL) of 18 children with SMA and varying numbers of SMN2 copies receiving nusinersen by single-molecule array (SiMoA) assay and analyzed correlations with baseline characteristics and motor development. Additionally, we examined sNfL in 97 neurologically healthy children.
resultsMedian sNfL levels in treatment-naïve SMA patients with 2 SMN2 copies are higher than in those with >2 SMN2 copies (P < 0.001) as well as age-matched controls (P = 0.010) and decline during treatment. The median sNfL concentration of healthy controls is 4.73 pg/mL with no differences in sex (P = 0.486) but age (P < 0.001). In all children with SMA, sNfL levels correlate strongly with cNfL levels (r = 0.7, P < 0.001). In children with SMA and 2 SMN2 copies, sNfL values correlate with motor function (r = -0.6, P = 0.134), in contrast to older SMA children with >2 SMN2 copies (r = -0.1, P = 0.744).
interpretationReference sNfL values of our large pediatric control cohort may be applied for future studies. Strong correlations between sNfL and cNfL together with motor function suggest that sNfL may be a suitable biomarker for disease activity in children with 2 SMN2 copies and those with >2 SMN2 copies within their initial stages during early childhood.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.