Marco Luigetti1,2, Andrea Di Paolantonio3, Valeria Guglielmino4,3, Angela Romano4,3, Salvatore Rossi3, Andrea Sabino3, Serenella Servidei4,3, Mario Sabatelli3,5, Guido Primiano4,3. 1. Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Neurologia, Largo A Gemelli 8, 00168, Rome, Italy. mluigetti@gmail.com. 2. Università Cattolica del Sacro Cuore, Rome, Italy. mluigetti@gmail.com. 3. Università Cattolica del Sacro Cuore, Rome, Italy. 4. Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Neurologia, Largo A Gemelli 8, 00168, Rome, Italy. 5. Centro Clinico NEMO Adulti, Rome, Italy.
Abstract
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.
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.
Authors: Marco Luigetti; Valeria Guglielmino; Marina Romozzi; Angela Romano; Andrea Di Paolantonio; Giulia Bisogni; Eleonora Sabatelli; Anna Modoni; Mario Sabatelli; Serenella Servidei; Mauro Lo Monaco Journal: Brain Sci Date: 2022-08-04