ArticleJournal of neurology2025
Elevated serum concentrations of GFAP in hereditary transthyretin amyloidosis since pre-symptomatic stages.
Article in Journal of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Evaluation of serum neurofilament light chain, GFAP, and peripherin as biomarkers in hereditary transthyretin amyloidosis.Scientific reports · 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
- Exploratory Evaluation of the Predictive Value of Serum Neurofilament Light Chain for Autonomic Neuropathy in Hereditary Transthyretin Amyloidosis.Journal of clinical medicine · 2026Article
- Clinical and genetic features of hereditary transthyretin amyloidosis with polyneuropathy in China: insights from case analysis and literature review.Frontiers in genetics · 2026Article
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Authors and funding
20 authors.
Funding
Abstract
backgroundHereditary transthyretin amyloidosis (ATTRv) is a rare disorder caused by pathogenic TTR gene variants. Glial fibrillary acidic protein (GFAP) and neurofilament light chain (NfL) are potential biomarkers for astrocyte activation and neuroaxonal damage, respectively. This study investigates serum GFAP (sGFAP) and NfL (sNfL) levels in ATTRv patients, pre-symptomatic subjects, and healthy controls (HCs) to evaluate their utility as biomarkers of disease progression and CNS involvement.
methodsOur multicenter cross-sectional study included 111 ATTRv patients (56 symptomatic, 55 pre-symptomatic subjects) and 183 HCs. Serum levels of sGFAP and sNfL were measured using ultrasensitive immunoassays. The statistical comparisons were performed using ANCOVA models (age and sex adjusted), with correlations examined between serum biomarkers and disease severity (Neuropathy Impairment Score, NIS).
resultssGFAP levels were elevated in symptomatic (median: 238.35 pg/ml) and pre-symptomatic subjects (median: 105.50 pg/ml) vs. HCs (median: 75.5 pg/ml, p < 0.001). sNfL was elevated only in symptomatic patients (median: 43.68 pg/ml) compared to pre-symptomatic subjects (median: 9.36 pg/ml) and HCs (median: 7.54 pg/ml, p < 0.001). Both biomarkers correlated significantly with NIS, reflecting disease severity. Female HCs had higher sGFAP levels than males (median 88.6 pg/ml vs. 59.8 pg/ml; p 0.011).
conclusionsGFAP and sNfL mark distinct ATTRv stages, with sGFAP indicating early preclinical changes and sNfL correlating with neurological progression. Sex differences in sGFAP levels among HCs suggest that sex should be considered as a covariate in biomarker analyses.
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