ArticleBrain and behavior2023
Comparison of neurofilament light and heavy chain in spinal muscular atrophy and amyotrophic lateral sclerosis: A pilot study.
Article in Brain and behavior, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia.European journal of neurology · 2026Guideline
- Serum creatinine to cystatin C ratio as a biomarker for monitoring motor-function in children with spinal muscular atrophy treated with nusinersen: a retrospective cohort study.BMC neurology · 2026Article
- Amyotrophic lateral sclerosis in Mainland China: clinical translational challenges and opportunities.Current opinion in neurology · 2025Review
- [Advances in the Structure and Function of Neurofilament Protein and Its Application in Early Diagnosis of Amyotrophic Lateral Sclerosis].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2025Review
- Application of Biomarkers in Spinal Muscular Atrophy.International journal of molecular sciences · 2025Review
- Evaluating the diagnostic performance of six plasma biomarkers for Alzheimer's disease and other neurodegenerative dementias in a large Chinese cohort.Alzheimer's research & therapy · 2025Article
- Biomarkers in spinal muscular atrophy.Frontiers in neurology · 2025Review
- FVC-DiP correlates with neurofilament light chain levels in serum and cerebrospinal fluid in patients with ALS.BMJ neurology open · 2025Article
- RYR 1 Gene Mutation in Motor Neuron Disease: A 10-Year Case Observation.Case reports in neurological medicine · 2025Article
- Comparison of neurofilament light and heavy chain in spinal muscular atrophy and amyotrophic lateral sclerosis: A pilot study.Brain and behavior · 2023Article
- Identifying Biomarkers of Spinal Muscular Atrophy for Further Development.Journal of neuromuscular diseases · 2023Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSpinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) were two major motor neuron diseases with similar symptoms and poor outcomes. This study aimed to identify potential biomarkers in disease monitoring and differential diagnosis of adult SMA patients with sporadic ALS patients.
methodsThis was a pilot study with ten adult SMA patients and ten ALS patients consecutively enrolled during hospitalization. Serum and cerebrospinal fluid (CSF) samples were collected for assessment of neurofilament light (NFL) and phosphorylated neurofilament heavy chain (pNFH). Serum creatine kinase (CK) and creatinine (Cr) were also compared between groups. The receiver operating characteristic (ROC) curves were used to identify differentiated values among ALS and SMA patients.
resultsSerum Cr, CSF NFL, and CSF pNFH levels of ALS patients were significantly higher than those of the adult SMA patients (p < .01). Serum CK and Cr were strongly correlated with baseline ALSFRS-R scores in SMA patients (p < .001). The ROC curves revealed an area under the curve (AUC) of 0.94 in serum Cr with a cut-off value of 44.5 μmol/L (Sensitivity 90%, Specificity 90%). AUC from the ROC curve of CSF NFL and CSF pNFH were 1.0 and 0.84, with cut-off values of 1275 pg/mL and 0.395 ng/mL, respectively (Sensitivity and Specificity of 100% and 100% in CSF NFL; Sensitivity and Specificity of 90% and 80% in CSF pNFH).
conclusionCSF NFL and pNFH might be useful biomarkers for differential diagnosis of adult SMA and ALS.
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