Neurofilament light polypeptide, also known as neurofilament light chain, is a neurofilamentprotein that in humans is encoded by the NEFLgene.[5][6] Neurofilament light chain is a biomarker that can be measured with immunoassays in cerebrospinal fluid and plasma and reflects axonal damage in a wide variety of neurological disorders.[7][8] It is a useful marker for disease monitoring in amyotrophic lateral sclerosis,[9]multiple sclerosis,[10]Alzheimer's disease,[11][12] and more recently Huntington's disease.[13] It is also promising marker for follow-up of patients with brain tumors.[14] Higher numbers have been associated with increased mortality.[15]
^Khalil M, Teunissen CE, Otto M, Piehl F, Sormani MP, Gattringer T, et al. (October 2018). "Neurofilaments as biomarkers in neurological disorders". Nature Reviews. Neurology. 14 (10): 577–589. doi:10.1038/s41582-018-0058-z. PMID30171200. S2CID52140127. neuroaxonal damage is the pathological substrate of permanent disability in various neurological disorders. ... Here, we review what is known about the structure and function of neurofilaments, discuss analytical aspects and knowledge of age-dependent normal ranges of neurofilaments and provide a comprehensive overview of studies on neurofilament light chain as a marker of axonal injury in different neurological disorders, including multiple sclerosis, neurodegenerative dementia, stroke, traumatic brain injury, amyotrophic lateral sclerosis and Parkinson disease.
^Thompson AG, Mead SH (June 2019). "Review: Fluid biomarkers in the human prion diseases". Molecular and Cellular Neurosciences. 97: 81–92. doi:10.1016/j.mcn.2018.12.003. PMID30529227. S2CID54437514. The very rapid neurodegeneration of prion disease results in strong signals from surrogate protein markers in the blood that reflect neuronal, axonal, synaptic or glial pathology in the brain: notably the tau and neurofilament light chain proteins.
^Arslan B, Ayhan Arslan G, Tuncer A, Karabudak R, Sepici Dinçel A (April 2022). "Evaluation of cerebrospinal fluid neurofilament light chain levels in multiple sclerosis and non-demyelinating diseases of the central nervous system: clinical and biochemical perspective". Bosnian Journal of Basic Medical Sciences. doi:10.17305/bjbms.2021.7326. PMID35490364. S2CID248478048.
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Chin SS, Liem RK (December 1989). "Expression of rat neurofilament proteins NF-L and NF-M in transfected non-neuronal cells". European Journal of Cell Biology. 50 (2): 475–490. PMID2516804.
Julien JP, Grosveld F, Yazdanbaksh K, Flavell D, Meijer D, Mushynski W (June 1987). "The structure of a human neurofilament gene (NF-L): a unique exon-intron organization in the intermediate filament gene family". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 909 (1): 10–20. doi:10.1016/0167-4781(87)90041-8. hdl:1765/2408. PMID3034332.
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Nomata Y, Watanabe T, Wada H (March 1983). "Highly acidic proteins from human brain: purification and properties of Glu-50 protein". Journal of Biochemistry. 93 (3): 825–831. doi:10.1093/jb/93.3.825. PMID6135695.
Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID8125298.
Pospelov VA, Pospelova TV, Julien JP (February 1994). "AP-1 and Krox-24 transcription factors activate the neurofilament light gene promoter in P19 embryonal carcinoma cells". Cell Growth & Differentiation. 5 (2): 187–196. PMID8180132.
Rosengren LE, Karlsson JE, Karlsson JO, Persson LI, Wikkelsø C (November 1996). "Patients with amyotrophic lateral sclerosis and other neurodegenerative diseases have increased levels of neurofilament protein in CSF". Journal of Neurochemistry. 67 (5): 2013–2018. doi:10.1046/j.1471-4159.1996.67052013.x. PMID8863508. S2CID36897027.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID9373149.
De Jonghe P, Mersivanova I, Nelis E, Del Favero J, Martin JJ, Van Broeckhoven C, et al. (February 2001). "Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E". Annals of Neurology. 49 (2): 245–249. doi:10.1002/1531-8249(20010201)49:2<245::AID-ANA45>3.0.CO;2-A. PMID11220745. S2CID28966753.