ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2024
Serum neurofilament light chain levels correlate with small fiber related parameters in patients with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN).
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Disease Prognosis and Progression in Transthyretin Amyloidosis: JACC: CardioOncology State-of-the-Art Review.JACC. CardioOncology · 2026Review
- 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
- Comparative Analysis of Small Nerve Fiber Density in Fibromyalgia Syndrome and Small Fiber Neuropathy.Biomedicines · 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
- 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
- Early nociceptive evoked potentials in symptomatic and asymptomatic transthyretin mutation carriers.Frontiers in neurology · 2025Article
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Abstract
backgroundRecent evidence suggests that both serum neurofilament light chain (sNfL) levels and small fiber related diagnostic variables may be valuable disease biomarkers of hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN). Our study aimed to explore the relations between sNfL and small fiber related skin biopsy and quantitative sensory testing (QST) parameters in a cohort of ATTRv-PN patients and pre-symptomatic carriers.
methodsWe retrospectively analyzed data from 13 ATTRv patients and 21 pre-symptomatic carriers who underwent sNfL dosage, skin biopsy, and QST, and analyzed correlations between sNFL, intraepidermal nerve fiber density (IENFD), and cold (CDT) and warm detection thresholds (WDT).
resultsBoth sNfL and small fiber related parameters significantly differed between carriers and patients (sNfL: p < 0.0001; IENFD: p = 0.0008; CDT, WDT: < 0.0001). sNFL levels were normal in all carriers, altered in 85% of patients, negatively correlated with distal IENFD (r = -0.47, p = 0.005), and significantly correlated with CDT (r = -0.68; p < 0.0001) and WDT (r = 0.57; p < 0.0001).
conclusionsOur study showed that sNfL reliably discriminates symptomatic ATTRv-PN patients from pre-symptomatic carriers, and found significant relations between sNfL, skin biopsy, and QST small fiber related parameters, suggesting that sNfL might be a valuable biomarker of peripheral nerve involvement in ATTRv-PN and a supportive criterion for symptomatic disease transition.
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