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Neurological Sciences
Published in: Neurological Sciences 4/2022

01-04-2022 | Polyneuropathy | Brief Communication

Neurofilament light chain as a disease severity biomarker in ATTRv: data from a single-centre experience

Authors: Marco Luigetti, Andrea Di Paolantonio, Valeria Guglielmino, Angela Romano, Salvatore Rossi, Andrea Sabino, Serenella Servidei, Mario Sabatelli, Guido Primiano

Published in: Neurological Sciences | Issue 4/2022

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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.
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Literature
1.
Luigetti M, Romano A, Di Paolantonio A et al (2020) Diagnosis and treatment of hereditary transthyretin amyloidosis (hATTR) polyneuropathy: current perspectives on improving patient care. Ther Clin Risk Manag 16:109–123CrossRef
2.
Russo M, Obici L, Bartolomei I et al (2020) ATTRv amyloidosis Italian Registry: clinical and epidemiological data. Amyloid 27:259–265CrossRef
3.
Khalil M, Teunissen CE, Otto M et al (2018) Neurofilaments as biomarkers in neurological disorders. Nat Rev Neurol 14:577–589CrossRef
4.
Gauthier A, Viel S, Perret M et al (2021) Comparison of SimoaTM and EllaTM to assess serum neurofilament-light chain in multiple sclerosis. Ann Clin Transl Neurol 8:1141–1150CrossRef
5.
Gaetani L, Blennow K, Calabresi P et al (2019) Neurofilament light chain as a biomarker in neurological disorders. J Neurol Neurosurg Psychiatry 90:870–881CrossRef
6.
Luigetti M, Bisogni G, Romano A et al (2018) Sudoscan in the evaluation and follow-up of patients and carriers with TTR mutations: experience from an Italian Centre. Amyloid 25:242–246CrossRef
7.
Salvalaggio A, Coraci D, Obici L, et al. (2021) Progressive brachial plexus enlargement in hereditary transthyretin amyloidosis. J Neurol
8.
Kapoor M, Foiani M, Heslegrave A et al (2019) Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis. J Peripher Nerv Syst 24:314–319CrossRef
9.
Maia LF, Maceski A, Conceição I et al (2020) Plasma neurofilament light chain: an early biomarker for hereditary ATTR amyloid polyneuropathy. Amyloid 27:97–102CrossRef
10.
Ticau S, Sridharan GV, Tsour S et al (2021) Neurofilament light chain as a biomarker of hereditary transthyretin-mediated amyloidosis. Neurology 96:e412–e422CrossRef
Metadata
Title
Neurofilament light chain as a disease severity biomarker in ATTRv: data from a single-centre experience
Authors
Marco Luigetti
Andrea Di Paolantonio
Valeria Guglielmino
Angela Romano
Salvatore Rossi
Andrea Sabino
Serenella Servidei
Mario Sabatelli
Guido Primiano
Publication date
01-04-2022
Publisher
Springer International Publishing
Published in
Neurological Sciences / Issue 4/2022
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-021-05850-7

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