Neurofilaments in disease: what do we know?

• Published in: Current opinion in neurobiology Vol. 61; pp. 105 - 115
• Main Author: Gordon, Brian A
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.04.2020
• Subjects: Biomarkers; Cytoskeleton; Intermediate Filaments; Neurofilament Proteins; White Matter
• ISSN: 0959-4388; 1873-6882
• DOI: 10.1016/j.conb.2020.02.001

•Neurofilament levels are elevated in most neurodegenerative conditions.•Levels predict cross-sectional and longitudinal cognitive and clinical outcomes.•There is minimal work relating neurofilaments to in vivo white matter damage.•It is unclear how neurofilament light and heavy chains relate to one another.•Neurofilaments are promising biomarkers, but more work needs to be done. Neurofilaments are proteins selectively expressed in the cytoskeleton of neurons, and increased levels are a marker of damage. Elevated neurofilament levels can serve as a marker of ongoing disease activity as well as a tool to measure response to therapeutic intervention. The potential utility of neurofilaments has drastically increased as recent advances have made it possible to measure levels in both the cerebrospinal fluid and blood. There is mounting evidence that neurofilament light chain (NfL) and phosphorylated neurofilament heavy chain (NfH) are abnormal in a host of neurodegenerative diseases. In this review we examine how both of these proteins behave across diseases and what we know about how these biomarkers relate to in vivo white matter pathology and each other.