ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2025
NfL as a biomarker in ATTRv amyloidosis: potential and limitations.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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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
2 citing papers in PubMed.
- Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Hereditary Transthyretin Amyloidosis Polyneuropathy.Journal of the peripheral nervous system : JPNS · 2026Article
- Exploratory Evaluation of the Predictive Value of Serum Neurofilament Light Chain for Autonomic Neuropathy in Hereditary Transthyretin Amyloidosis.Journal of clinical medicine · 2026Article
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary transthyretin amyloidosis (ATTRv) presents unique challenges in diagnosis and monitoring due to its phenotypic and genetic heterogeneity. This study evaluates the utility of serum neurofilaments light chains (NfL) as a reliable biomarker of disease activity in patients carrying different pathogenic TTR variants. Twenty-eight ATTRv patients carrying the following mutations (p.Phe84Leu, p.Glu109Gln, p.Thr69Ala, p.Val50Met) as well as 8 carriers and 27 healthy control subjects underwent extensive examination, including serum NfL measurement, neuropathy impairment score for the lower limb (NIS-LL), compound autonomic dysfunction test (CADT), and polyneuropathy disability (PND) scores, at T0, T6 and T12. The study not only confirms the previously established correlation between serum NfL concentrations and disease severity scales but also extends these observations to the mutations reported here. Furthermore, the research highlights the potential of serum NfLs as discriminators between presymptomatic carriers and symptomatic patients, emphasizing their utility in predicting disease onset and facilitating timely intervention.
Indexed as
Identifiers
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Registered trials
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