Related Experiment Video
Updated: Oct 5, 2025
Author Spotlight: Unveiling the Pathway Linking Obesity to Autoimmune Inflammation in Multiple Sclerosis
Published on: February 23, 2024
Neurofilament light chain as a disease severity biomarker in ATTRv: data from a single-centre experience
Marco Luigetti1,2, Andrea Di Paolantonio3, Valeria Guglielmino4,3
1Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Neurologia, Largo A Gemelli 8, 00168, Rome, Italy. mluigetti@gmail.com.
Background:
Hereditary transthyretin amyloidosis (ATTRv) is a treatable multisystem disorder with prevalent peripheral nervous system impairment. Besides neurophysiological measures, there are few markers to monitor disease progression. Neurofilament light chain (NfL) has recently been considered a sensitive biomarker for neuroaxonal damage in this setting.
Objective:
To evaluate NfL levels in a cohort of ATTRv patients and pre-symptomatic carriers and correlate the serum concentrations with other markers of disease severity.
Methods:
We analysed NfL serum from 17 ATTRv patients or carriers and 26 controls. An exhaustive clinical and instrumental evaluation was performed in all patients.
Results:
NfL levels were significantly higher in ATTRv cases when compared with controls. A significant correlation was found between NfL values and NIS scale, Sudoscan values from feet, interventricular septum thickness, and Quality of Life-Diabetic Neuropathy (Norfolk QoL-DN) questionnaire.
Conclusion:
We confirm that NfL is a reliable and promising biomarker to evaluate the ATTRv severity and monitor its progression.
