Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022
Neurofilament light chain as a disease severity biomarker in ATTRv: data from a single-centre experience.
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Luigetti Marco, Di Paolantonio Andrea, Guglielmino Valeria, Romano Angela, Rossi Salvatore, Sabino Andrea, Servidei Serenella, Sabatelli Mario, Primiano Guido
Аннотация
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.
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.