Neurofilaments in neurologic disease

Abstract

Neurofilaments (NFs), major cytoskeletal constituents of neurons, have emerged as universal biomarkers of neuronal injury. Neuroaxonal damage underlies permanent disability in various neurological conditions. It is crucial to accurately quantify and longitudinally monitor this damage to evaluate disease progression, evaluate treatment effectiveness, contribute to novel treatment development, and offer prognostic insights. Neurofilaments show promise for this purpose, as their levels increase with neuroaxonal damage in both cerebrospinal fluid and blood, independent of specific causal pathways. New assays with high sensitivity allow reliable measurement of neurofilaments in body fluids and open avenues to investigate their role in neurological disorders. This book chapter will delve into the evolving landscape of neurofilaments, starting with their structure and cellular functions within neurons. It will then provide a comprehensive overview of their broad clinical value as biomarkers in diseases affecting the central or peripheral nervous system.

Keywords: Alzheimer’s disease; Amyotrophic lateral sclerosis; Biomarkers; Charcot-Marie-Tooth; Cytoskeletal; Frontotemporal dementia; Huntington’s disease; Inflammatory polyneuropathies; Intermediate filaments; Multiple sclerosis; Neurofilaments; Neuronal injury; Parkinson’s disease.