Frontiers in neurology · 2025
Clinical utility of neurofilament light chain as a biomarker for disease onset and progression in hereditary transthyretin amyloidosis.
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Gragera-Martínez Álvaro, Borrachero Garro Cristina, Muñoz Beamud Francisco, Manovel Sánchez Ana, González Macías Andrés, Pizarro Sánchez Mariano, Jiménez Heffernan Amelia, Serrano Mira Ana, Macías Dominguez Beatriz, Garcia Garrido Sandra
Аннотация
BACKGROUND: Neurofilament light chain levels (NfL) have emerged as a biomarker for early diagnosis and follow-up of hereditary transthyretin variant amyloidosis (ATTRv). We evaluated the most accurate technique for NfL quantifying in ATTRv healthy carriers and symptomatic patients in real-life practice, and assessed whether NfL may represent a reliable biomarker of disease onset and progression.
METHODS: Serum NfL were measured using ELISA and the single-molecule array (SIMoA) technique. Disease severity was assessed with a polyneuropathy disability score (PND).
RESULTS: Seventy-five subjects with pathogenic transthyretin variant (40 ATTRv healthy carriers and 35 ATTRv patients) were enrolled. We observed a significant correlation between ELISA and SIMoA assay (Pearson's R2-value = 0.9899). Compared to healthy carriers, patients with symptomatic ATTRv had statistically higher serum NfL levels (p < 0.001). We propose a NfL cut-off of 7.9 pg./mL to distinguish between healthy carriers and ATTRv patients with high diagnostic accuracy (AUC = 0.847; p < 0.001; sensitivity = 90.0%; specificity = 55.0%), whereas the NfL threshold of 18.4 pg./mL discriminated the transition from patients with PND I to PND ≥ II (AUC = 0.695; p < 0.001; sensitivity = 67.0%, specificity = 86%).
CONCLUSION: Serum NfL can be accurately quantified using both ELISA and SIMoA array, and it seems to be a reliable biomarker to detect the transition from presymptomatic to symptomatic disease onset and to monitor disease progression.
METHODS: Serum NfL were measured using ELISA and the single-molecule array (SIMoA) technique. Disease severity was assessed with a polyneuropathy disability score (PND).
RESULTS: Seventy-five subjects with pathogenic transthyretin variant (40 ATTRv healthy carriers and 35 ATTRv patients) were enrolled. We observed a significant correlation between ELISA and SIMoA assay (Pearson's R2-value = 0.9899). Compared to healthy carriers, patients with symptomatic ATTRv had statistically higher serum NfL levels (p < 0.001). We propose a NfL cut-off of 7.9 pg./mL to distinguish between healthy carriers and ATTRv patients with high diagnostic accuracy (AUC = 0.847; p < 0.001; sensitivity = 90.0%; specificity = 55.0%), whereas the NfL threshold of 18.4 pg./mL discriminated the transition from patients with PND I to PND ≥ II (AUC = 0.695; p < 0.001; sensitivity = 67.0%, specificity = 86%).
CONCLUSION: Serum NfL can be accurately quantified using both ELISA and SIMoA array, and it seems to be a reliable biomarker to detect the transition from presymptomatic to symptomatic disease onset and to monitor disease progression.