Neurofilaments in neurologic disorders and beyond

Many neurologic diseases can initially present as a diagnostic challenge and even when a diagnosis is made, monitoring of disease activity, progression and response to therapy may be limited with existing clinical and paraclinical assessments. As such, the identification of disease specific biomarkers provides a promising avenue by which diseases can be effectively diagnosed, monitored and used as a prognostic indicator for long-term outcomes. Neurofilaments are an integral component of the neuronal cytoskeleton, where assessment of neurofilaments in the blood, cerebrospinal fluid (CSF) and diseased tissue has been shown to have value in providing diagnostic clarity, monitoring disease activity, tracking progression and treatment efficacy, as well as lending prognostic insight into long-term outcomes. As such, this review attempts to provide a glimpse into the structure and function of neurofilaments, their role in various neurologic and non-neurologic disorders, including uncommon conditions with recent knowledge of neurofilament-related pathology, as well as their applicability in future clinical practice.