'''Neurofilament light polypeptide''' is a [[protein]] that in humans is encoded by the ''NEFL'' [[gene]].<ref name="pmid17620486">{{cite journal | vauthors = Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Löscher WN | title = Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene | journal = Arch Neurol | volume = 64 | issue = 7 | pages = 966–70 | date = Jul 2007 | pmid = 17620486 | pmc = | doi = 10.1001/archneur.64.7.966 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: NEFL neurofilament, light polypeptide 68kDa| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4747| accessdate = }}</ref>
'''Neurofilament light polypeptide''' is a [[protein]] that in humans is encoded by the ''NEFL'' [[gene]].<ref name="pmid17620486">{{cite journal | vauthors = Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Löscher WN | title = Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene | journal = Arch Neurol | volume = 64 | issue = 7 | pages = 966–70 | date = Jul 2007 | pmid = 17620486 | pmc = | doi = 10.1001/archneur.64.7.966 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: NEFL neurofilament, light polypeptide 68kDa| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4747| accessdate = }}</ref>
It is associated with [[Charcot–Marie–Tooth disease]] 1F and 2E. The Neurofilament light subunit can be measured with immunoassays in cerebrospinal fluid and plasma and reflects axonal damage in neurological disorders.<ref>{{cite journal|last1=Jonsson|first1=M.|last2=Zetterberg|first2=H.|last3=Van Straaten|first3=E.|last4=Lind|first4=K.|last5=Syversen|first5=S.|last6=Edman|first6=Å.|last7=Blennow|first7=K.|last8=Rosengren|first8=L.|last9=Pantoni|first9=L.|last10=Inzitari|first10=D.|last11=Wallin|first11=A.|title=Cerebrospinal fluid biomarkers of white matter lesions - cross-sectional results from the LADIS study|journal=European Journal of Neurology|date=March 2010|volume=17|issue=3|pages=377–382|doi=10.1111/j.1468-1331.2009.02808.x|pmid= 19845747}}</ref> It is a useful maker for disease monitoring in Amyotrophic Lateral Sclerosis,<ref>{{cite journal|last1=Rosengren|first1=LE|last2=Karlsson|first2=JE|last3=Karlsson|first3=JO|last4=Persson|first4=LI|last5=Wikkelsø|first5=C|title=Patients with amyotrophic lateral sclerosis and other neurodegenerative diseases have increased levels of neurofilament protein in CSF.|journal=Journal of Neurochemistry|date=November 1996|volume=67|issue=5|pages=2013–8|pmid=8863508}}</ref> multiple sclerosis<ref>{{cite journal|last1=Teunissen|first1=CE|last2=Iacobaeus|first2=E|last3=Khademi|first3=M|last4=Brundin|first4=L|last5=Norgren|first5=N|last6=Koel-Simmelink|first6=MJ|last7=Schepens|first7=M|last8=Bouwman|first8=F|last9=Twaalfhoven|first9=HA|last10=Blom|first10=HJ|last11=Jakobs|first11=C|last12=Dijkstra|first12=CD|title=Combination of CSF N-acetylaspartate and neurofilaments in multiple sclerosis.|journal=Neurology|date=14 April 2009|volume=72|issue=15|pages=1322–9|pmid=19365053}}</ref> and more recently Huntingtons disease.<ref>{{cite journal|last1=Niemelä|first1=Valter|last2=Landtblom|first2=Anne-Marie|last3=Blennow|first3=Kaj|last4=Sundblom|first4=Jimmy|last5=Blum|first5=David|title=Tau or neurofilament light—Which is the more suitable biomarker for Huntington’s disease?|journal=PLOS ONE|date=27 February 2017|volume=12|issue=2|pages=e0172762|doi=10.1371/journal.pone.0172762}}</ref>
It is associated with [[Charcot–Marie–Tooth disease]] 1F and 2E. The Neurofilament light subunit can be measured with immunoassays in cerebrospinal fluid and plasma and reflects axonal damage in neurological disorders.<ref>{{cite journal|last1=Jonsson|first1=M.|last2=Zetterberg|first2=H.|last3=Van Straaten|first3=E.|last4=Lind|first4=K.|last5=Syversen|first5=S.|last6=Edman|first6=Å.|last7=Blennow|first7=K.|last8=Rosengren|first8=L.|last9=Pantoni|first9=L.|last10=Inzitari|first10=D.|last11=Wallin|first11=A.|title=Cerebrospinal fluid biomarkers of white matter lesions - cross-sectional results from the LADIS study|journal=European Journal of Neurology|date=March 2010|volume=17|issue=3|pages=377–382|doi=10.1111/j.1468-1331.2009.02808.x|pmid= 19845747}}</ref> It is a useful maker for disease monitoring in Amyotrophic Lateral Sclerosis,<ref>{{cite journal|last1=Rosengren|first1=LE|last2=Karlsson|first2=JE|last3=Karlsson|first3=JO|last4=Persson|first4=LI|last5=Wikkelsø|first5=C|title=Patients with amyotrophic lateral sclerosis and other neurodegenerative diseases have increased levels of neurofilament protein in CSF.|journal=Journal of Neurochemistry|date=November 1996|volume=67|issue=5|pages=2013–8|pmid=8863508|doi=10.1046/j.1471-4159.1996.67052013.x}}</ref> multiple sclerosis<ref>{{cite journal|last1=Teunissen|first1=CE|last2=Iacobaeus|first2=E|last3=Khademi|first3=M|last4=Brundin|first4=L|last5=Norgren|first5=N|last6=Koel-Simmelink|first6=MJ|last7=Schepens|first7=M|last8=Bouwman|first8=F|last9=Twaalfhoven|first9=HA|last10=Blom|first10=HJ|last11=Jakobs|first11=C|last12=Dijkstra|first12=CD|title=Combination of CSF N-acetylaspartate and neurofilaments in multiple sclerosis.|journal=Neurology|date=14 April 2009|volume=72|issue=15|pages=1322–9|pmid=19365053|doi=10.1212/wnl.0b013e3181a0fe3f}}</ref> and more recently Huntington's disease.<ref>{{cite journal|last1=Niemelä|first1=Valter|last2=Landtblom|first2=Anne-Marie|last3=Blennow|first3=Kaj|last4=Sundblom|first4=Jimmy|last5=Blum|first5=David|title=Tau or neurofilament light—Which is the more suitable biomarker for Huntington’s disease?|journal=PLOS ONE|date=27 February 2017|volume=12|issue=2|pages=e0172762|doi=10.1371/journal.pone.0172762}}</ref>
Neurofilament light polypeptide is a protein that in humans is encoded by the NEFLgene.[1][2]
It is associated with Charcot–Marie–Tooth disease 1F and 2E. The Neurofilament light subunit can be measured with immunoassays in cerebrospinal fluid and plasma and reflects axonal damage in neurological disorders.[3] It is a useful maker for disease monitoring in Amyotrophic Lateral Sclerosis,[4] multiple sclerosis[5] and more recently Huntington's disease.[6]
↑Jonsson, M.; Zetterberg, H.; Van Straaten, E.; Lind, K.; Syversen, S.; Edman, Å.; Blennow, K.; Rosengren, L.; Pantoni, L.; Inzitari, D.; Wallin, A. (March 2010). "Cerebrospinal fluid biomarkers of white matter lesions - cross-sectional results from the LADIS study". European Journal of Neurology. 17 (3): 377–382. doi:10.1111/j.1468-1331.2009.02808.x. PMID19845747.
↑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): 2013–8. doi:10.1046/j.1471-4159.1996.67052013.x. PMID8863508.
↑Teunissen, CE; Iacobaeus, E; Khademi, M; Brundin, L; Norgren, N; Koel-Simmelink, MJ; Schepens, M; Bouwman, F; Twaalfhoven, HA; Blom, HJ; Jakobs, C; Dijkstra, CD (14 April 2009). "Combination of CSF N-acetylaspartate and neurofilaments in multiple sclerosis". Neurology. 72 (15): 1322–9. doi:10.1212/wnl.0b013e3181a0fe3f. PMID19365053.
↑Niemelä, Valter; Landtblom, Anne-Marie; Blennow, Kaj; Sundblom, Jimmy; Blum, David (27 February 2017). "Tau or neurofilament light—Which is the more suitable biomarker for Huntington's disease?". PLOS ONE. 12 (2): e0172762. doi:10.1371/journal.pone.0172762.
↑Mukai H, Toshimori M, Shibata H, Kitagawa M, Shimakawa M, Miyahara M, Sunakawa H, Ono Y (Apr 1996). "PKN associates and phosphorylates the head-rod domain of neurofilament protein". J. Biol. Chem. 271 (16): 9816–22. doi:10.1074/jbc.271.16.9816. PMID8621664.
↑Haddad LA, Smith N, Bowser M, Niida Y, Murthy V, Gonzalez-Agosti C, Ramesh V (Nov 2002). "The TSC1 tumor suppressor hamartin interacts with neurofilament-L and possibly functions as a novel integrator of the neuronal cytoskeleton". J. Biol. Chem. 277 (46): 44180–6. doi:10.1074/jbc.M207211200. PMID12226091.
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Mukai H, Toshimori M, Shibata H, Kitagawa M, Shimakawa M, Miyahara M, Sunakawa H, Ono Y (1996). "PKN associates and phosphorylates the head-rod domain of neurofilament protein". J. Biol. Chem. 271 (16): 9816–22. doi:10.1074/jbc.271.16.9816. PMID8621664.
Rosengren LE, Karlsson JE, Karlsson JO, Persson LI, Wikkelsø C (1996). "Patients with amyotrophic lateral sclerosis and other neurodegenerative diseases have increased levels of neurofilament protein in CSF". J. Neurochem. 67 (5): 2013–8. doi:10.1046/j.1471-4159.1996.67052013.x. PMID8863508.
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