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Neurodegeneration
Review
Neurofilament light chain as a biomarker in neurological disorders
  1. Lorenzo Gaetani1,
  2. Kaj Blennow2,3,
  3. Paolo Calabresi1,4,
  4. Massimiliano Di Filippo1,
  5. Lucilla Parnetti1,
  6. Henrik Zetterberg2,3,5,6
  1. 1 Section of Neurology, Department of Medicine, University of Perugia, Perugia, Italy
  2. 2 Institute of Neuroscience and Physiology Department of Psychiatry and Neurochemistry, The Sahlgrenska AcademyUniversity of Gothenburg, Mölndal, Sweden
  3. 3 Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden
  4. 4 Laboratory of Neurophysiology, IRCCS Fondazione Santa Lucia, Rome, Italy
  5. 5 Department of Molecular Neuroscience, UCL Institute of Neurology Queen Square, London, UK
  6. 6 UK Dementia Research Institute at UCL, London, United Kingdom
  1. Correspondence to Dr Lorenzo Gaetani, Section of Neurology, Department of Medicine, University of Perugia, Perugia 06100, Italy; loregaeta{at}gmail.com

Abstract

In the management of neurological diseases, the identification and quantification of axonal damage could allow for the improvement of diagnostic accuracy and prognostic assessment. Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases. New immunoassays able to detect biomarkers at ultralow levels have allowed for the measurement of NfL in blood, thus making it possible to easily and repeatedly measure NfL for monitoring diseases’ courses. Evidence that both CSF and blood NfL may serve as diagnostic, prognostic and monitoring biomarkers in neurological diseases is progressively increasing, and NfL is one of the most promising biomarkers to be used in clinical and research setting in the next future. Here we review the most important results on CSF and blood NfL and we discuss its potential applications and future directions.

  • multiple sclerosis
  • dementia
  • motor neuron disease
  • Parkinson's disease
  • traumatic brain injury

https://doi.org/10.1136/jnnp-2018-320106

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    Footnotes

    • Contributors LG, LP, MDF and HZ made the literature search and drafted the manuscript. LG, MDF and LP prepared the figures and the tables. KB, PC, MDF, LP and HZ reviewed the manuscript. All the authors read and approved the final version of the manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests LG received travel grants from Biogen-Idec, Biogen, Novartis, Teva, Genzyme and Almirall to attend national and international conferences. KB has served as a consultant or at advisory boards for Alzheon, BioArctic, Biogen, Eli Lilly, Fujirebio Europe, IBL International, Pfizer and Roche Diagnostics, and is a co-founder of Brain Biomarker Solutions in Gothenburg AB, a GU Ventures-based platform company at the University of Gothenburg. PC receives research support from Bayer Schering, Biogen-Dompé, Boehringer Ingelheim, Eisai, Lundbeck, Merck-Serono, Novartis, Sanofi-Aventis, Sigma-Tau and UCB Pharma. MDF participated to advisory boards of Biogen Idec, Teva and Bayer, received travel grants from Bayer Schering, Biogen-Dompé, Biogen-Idec, Merck-Serono, Novartis and Sanofi-Aventis to attend national and international conferences, and received speaker and writing honoraria from Biogen Idec, Novartis and Sanofi-Genzyme. HZ has served at advisory boards for Eli Lilly, Roche Diagnostics and Pharmasum Therapeutics, and is a co-founder of Brain Biomarker Solutions in Gothenburg AB, a GU Ventures-based platform company at the University of Gothenburg. LP reports no conflict of interest.

    • Patient consent for publication Not required.

    • Provenance and peer review Not commissioned; externally peer reviewed.