ArticleEuropean journal of neurology2024
Serum neurofilament light chain: a promising early diagnostic biomarker for hereditary transthyretin amyloidosis?
Article in European journal of neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Neurofilament Light Chains in Systemic Amyloidosis: A Systematic Review.International journal of molecular sciences · 2024Pooled it
- Central nervous system manifestations in hereditary transthyretin amyloidosis: a cross-sectional study with 151 patients.Journal of neurology · 2026Article
- Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Hereditary Transthyretin Amyloidosis Polyneuropathy.Journal of the peripheral nervous system : JPNS · 2026Article
- Clinical Utility of Serum Neurofilament Light Chain in Peripheral Neuropathy.Muscle & nerve · 2026Article
- Neurofilament Light Chain Levels as Diagnostic and Prognostic Biomarkers in Guillain-Barré Syndrome: An Updated Systematic Review and Meta-Analysis.Neurology and therapy · 2025Article
- NfL as a biomarker in ATTRv amyloidosis: potential and limitations.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Intracutaneous Amyloid Deposition is Associated With Nerve Conduction Studies Deterioration in Presumed Asymptomatic Pathogenic Variant TTR Carriers.European journal of neurology · 2025Article
- Comparative Analysis of SiMoA and Ella Immunoassay Platforms for Measuring Serum Neurofilament Light Chain Levels in ATTRv With Polyneuropathy and Presymptomatic Carriers.European journal of neurology · 2025Article
- Elevated serum concentrations of GFAP in hereditary transthyretin amyloidosis since pre-symptomatic stages.Journal of neurology · 2025Article
- Serum Biomarkers in Transthyretin Amyloidosis: An Overview of Neurofilaments, Cardiac, Renal, and Gastrointestinal Involvement.Neurology and therapy · 2025Review
- Investigating the contribution of laboratory parameters on plasma neurofilament light chain levels in multiple sclerosis.Frontiers in neurology · 2025Article
- Real-life experience with disease-modifying drugs in hereditary transthyretin amyloid polyneuropathy: A clinical and electrophysiological appraisal.European journal of neurology · 2025Article
- Monitoring patients and asymptomatic carriers with hereditary transthyretin amyloidosis: regional protocol of Emilia-Romagna ATTR working group.Frontiers in neurology · 2025Article
- Clinical utility of neurofilament light chain as a biomarker for disease onset and progression in hereditary transthyretin amyloidosis.Frontiers in neurology · 2025Article
- Serum neurofilament light chain levels correlate with small fiber related parameters in patients with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN).Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- Oxidative Stress in Transthyretin-Mediated Amyloidosis: An Exploratory Study.Antioxidants (Basel, Switzerland) · 2024Article
- Early detection of nerve involvement in presymptomatic TTR mutation carriers: exploring potential markers of disease onset.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- MiR206 and 423-3p Are Differently Modulated in Fast and Slow-Progressing Amyotrophic Lateral Sclerosis Patients.Neuromolecular medicine · 2024Article
- Biomarkers of axonal damage to favor early diagnosis in variant transthyretin amyloidosis (A-ATTRv).Scientific reports · 2024Article
- Serum neurofilament light chain: a promising early diagnostic biomarker for hereditary transthyretin amyloidosis?European journal of neurology · 2024Article
Corrections and comments
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Authors and funding
16 authors at 7 institutions in 1 country.
Funding
Abstract
background and purposeHereditary transthyretin amyloidosis (ATTRv) is a life-threatening disease caused by mutations in the gene encoding transthyretin (TTR). The recent therapeutic advances have underlined the importance of easily accessible, objective biomarkers of both disease onset and progression. Preliminary evidence suggests a potential role in this respect for neurofilament light chain (NfL). In this study, the aim was to determine serum NfL (sNfL) levels in a late-onset ATTRv population and evaluate whether it might represent a reliable biomarker of disease onset (i.e., 'conversion' from the asymptomatic status to symptomatic disease in TTR mutation carriers).
methodsIn all, 111 individuals harbouring a pathogenic TTR variant (61 symptomatic ATTRv patients and 50 presymptomatic carriers) were consecutively enrolled. Fifty healthy volunteers were included as the control group. Ella™ apparatus was used to assess sNfL levels.
resultsSerum NfL levels were increased in ATTRv patients compared to both presymptomatic carriers and healthy controls, whilst not differing between carriers and healthy controls. An sNfL cut-off of 37.10 pg/mL could discriminate between asymptomatic and symptomatic individuals with high diagnostic accuracy (area under the curve 0.958; p < 0.001), sensitivity (81.4%) and specificity (100%).
conclusionsSerum NfL seems to be a promising biomarker of peripheral nerve involvement in ATTRv amyloidosis and might become a reliable, objective measure to detect the transition from the presymptomatic stage to the onset of symptomatic disease. Further longitudinal studies are needed to confirm such a role and determine whether it could equally represent a biomarker of disease progression and response to therapy.
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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.