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Open Access 01-12-2020 | Amyotrophic Lateral Sclerosis | Review

Neurofilaments in motor neuron disorders: towards promising diagnostic and prognostic biomarkers

Authors: Elisabetta Zucchi, Valentina Bonetto, Gianni Sorarù, Ilaria Martinelli, Piero Parchi, Rocco Liguori, Jessica Mandrioli

Published in: Molecular Neurodegeneration | Issue 1/2020

Abstract

Motor neuron diseases (MNDs) are etiologically and biologically heterogeneous diseases. The pathobiology of motor neuron degeneration is still largely unknown, and no effective therapy is available. Heterogeneity and lack of specific disease biomarkers have been appointed as leading reasons for past clinical trial failure, and biomarker discovery is pivotal in today’s MND research agenda.

In the last decade, neurofilaments (NFs) have emerged as promising biomarkers for the clinical assessment of neurodegeneration. NFs are scaffolding proteins with predominant structural functions contributing to the axonal cytoskeleton of myelinated axons. NFs are released in CSF and peripheral blood as a consequence of axonal degeneration, irrespective of the primary causal event. Due to the current availability of highly-sensitive automated technologies capable of precisely quantify proteins in biofluids in the femtomolar range, it is now possible to reliably measure NFs not only in CSF but also in blood.

In this review, we will discuss how NFs are impacting research and clinical management in ALS and other MNDs. Besides contributing to the diagnosis at early stages by differentiating between MNDs with different clinical evolution and severity, NFs may provide a useful tool for the early enrolment of patients in clinical trials. Due to their stability across the disease, NFs convey prognostic information and, on a larger scale, help to stratify patients in homogenous groups. Shortcomings of NFs assessment in biofluids will also be discussed according to the available literature in the attempt to predict the most appropriate use of the biomarker in the MND clinic.

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Title: Neurofilaments in motor neuron disorders: towards promising diagnostic and prognostic biomarkers
Authors: Elisabetta Zucchi
Valentina Bonetto
Gianni Sorarù
Ilaria Martinelli
Piero Parchi
Rocco Liguori
Jessica Mandrioli
Publication date: 01-12-2020
Publisher: BioMed Central
Keywords: Amyotrophic Lateral Sclerosis
Biomarkers
Published in: Molecular Neurodegeneration / Issue 1/2020
Electronic ISSN: 1750-1326
DOI: https://doi.org/10.1186/s13024-020-00406-3

At a glance: The STEP trials

Springer Medicine

Neurofilaments in motor neuron disorders: towards promising diagnostic and prognostic biomarkers

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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