Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS

References

• Kiernan MC, Vucic S, Cheah BC, Turner MR, Eisen A, Hardiman O, et al. Amyotrophic lateral sclerosis. Lancet. 2011;377:942–55.
   PubMed Web of Science ®Google Scholar
• Su Z, Zhang Y, Gendron TF, Bauer PO, Chew J, Yang W-Y, et al. Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS. Neuron. 2014;83:1043–50.
   PubMed Web of Science ®Google Scholar
• Oeckl P, Steinacker P, von Arnim CAF, Straub S, Nagl M, Feneberg E, et al. Intact protein analysis of ubiquitin in cerebrospinal fluid by multiple reaction monitoring reveals differences in Alzheimeŕs disease and frontotemporal lobar degeneration. J Proteome Res. 2014;13:4518–25.
   PubMed Web of Science ®Google Scholar
• Lu C-H, Macdonald-Wallis C, Gray E, Pearce N, Petzold A, Norgren N, et al. Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis. Neurology. 2015;84:2247–57.
   PubMed Web of Science ®Google Scholar
• Gonçalves M, Tillack L, de Carvalho M, Pinto S, Conradt HS, Costa J. Phosphoneurofilament heavy chain and N-glycomics from the cerebrospinal fluid in amyotrophic lateral sclerosis. Clin Chim Acta. 2015;438:342–9.
   PubMed Web of Science ®Google Scholar
• Lehnert S, Costa J, de Carvalho M, Kirby J, Kuzma-Kozakiewicz M, Morelli C, et al. Multicentre quality control evaluation of different biomarker candidates for amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. 2014;15:344–50.
   PubMed Web of Science ®Google Scholar
• Gaiottino J, Norgren N, Dobson R, Topping J, Nissim A, Malaspina A, et al. Increased neurofilament light chain blood levels in neurodegenerative neurological diseases. PLoS One. 2013;8:e75091.
   PubMed Web of Science ®Google Scholar
• Tortelli R, Ruggieri M, Cortese R, D’Errico E, Capozzo R, Leo A, et al. Elevated cerebrospinal fluid neurofilament light levels in patients with amyotrophic lateral sclerosis: a possible marker of disease severity and progression. Eur J Neurol. 2012;19:1561–7.
   PubMed Web of Science ®Google Scholar
• Steinacker P, Fang L, Kuhle J, Petzold A, Tumani H, Ludolph AC, et al. Soluble beta-amyloid precursor protein is related to disease progression in amyotrophic lateral sclerosis. PLoS One. 2011;6:e23600.
   PubMed Web of Science ®Google Scholar
• Ganesalingam J, An J, Shaw CE, Shaw G, Lacomis D, Bowser R. Combination of neurofilament heavy chain and complement C3 as CSF biomarkers for ALS. J Neurochem. 2011;117:528–37.
   PubMed Web of Science ®Google Scholar
• Kuhle J, Regeniter A, Leppert D, Mehling M, Kappos L, Lindberg RLP, et al. A highly sensitive electrochemiluminescence immunoassay for the neurofilament heavy chain protein. J Neuroimmunol. 2010;220:114–19.
   PubMed Web of Science ®Google Scholar
• Zetterberg H, Jacobsson J, Rosengren L, Blennow K, Andersen PM. Cerebrospinal fluid neurofilament light levels in amyotrophic lateral sclerosis: impact of SOD1 genotype. Eur J Neurol. 2007;14:1329–33.
   PubMed Web of Science ®Google Scholar
• Brettschneider J, Petzold A, Süssmuth SD, Ludolph AC, Tumani H. Axonal damage markers in cerebrospinal fluid are increased in ALS. Neurology. 2006;66:852–6.
   PubMed Web of Science ®Google Scholar
• Petzold A, Keir G, Green AJE, Giovannoni G, Thompson EJ. A specific ELISA for measuring neurofilament heavy chain phosphoforms. J Immunol Methods. 2003;278:179–90.
   PubMed Web of Science ®Google Scholar
• Ganesalingam J, An J, Bowser R, Andersen PM, Shaw CE. pNfH is a promising biomarker for ALS. Amyotroph Lateral Scler Frontotemporal Degener. 2013;14:146–9.
   PubMed Web of Science ®Google Scholar
• Norgren N, Rosengren L, Stigbrand T. Elevated neurofilament levels in neurological diseases. Brain Res. 2003;987:25–31.
   PubMed Web of Science ®Google Scholar
• Rosengren LE, Karlsson JE, Karlsson JO, Persson LI, Wikkelsø C. Patients with amyotrophic lateral sclerosis and other neurodegenerative diseases have increased levels of neurofilament protein in CSF. J Neurochem. 1996;67:2013–18.
   PubMed Web of Science ®Google Scholar
• McCombe PA, Pfluger C, Singh P, Lim CYH, Airey C, Henderson RD. Serial measurements of phosphorylated neurofilament-heavy in the serum of subjects with amyotrophic lateral sclerosis. J Neurol Sci. 2015;353:122–9.
   PubMed Web of Science ®Google Scholar
• Lu C-H, Petzold A, Topping J, Allen K, Macdonald-Wallis C, Clarke J, et al. Plasma neurofilament heavy chain levels and disease progression in amyotrophic lateral sclerosis: insights from a longitudinal study. J Neurol Neurosurg Psychiatry. 2015;86:565–73.
   PubMed Web of Science ®Google Scholar
• Boylan K, Yang C, Crook J, Overstreet K, Heckman M, Wang Y, et al. Immunoreactivity of the phosphorylated axonal neurofilament H subunit (pNF-H) in blood of ALS model rodents and ALS patients: evaluation of blood pNF-H as a potential ALS biomarker. J Neurochem. 2009;111:1182–91.
   PubMed Web of Science ®Google Scholar
• Steinacker P, Feneberg E, Weishaupt J, Brettschneider J, Tumani H, Andersen PM, et al. Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients. J Neurol Neurosurg Psychiatry. 2016;87:12–20.
   PubMed Web of Science ®Google Scholar
• Otto M, Bowser R, Turner M, Berry J, Brettschneider J, Connor J, et al. Roadmap and standard operating procedures for biobanking and discovery of neurochemical markers in ALS. Amyotroph Lateral Scler. 2012;13:1–10.
   PubMed Web of Science ®Google Scholar
• Mattsson N, Andreasson U, Persson S, Carrillo MC, Collins S, Chalbot S, et al. CSF biomarker variability in the Alzheimer’s Association quality control program. Alzheimer’s Dement. 2013;9:251–61.
   PubMed Web of Science ®Google Scholar
• Vanderstichele H, Bibl M, Engelborghs S, Le Bastard N, Lewczuk P, Molinuevo JL, et al. Standardization of preanalytical aspects of cerebrospinal fluid biomarker testing for Alzheimer’s disease diagnosis: a consensus paper from the Alzheimer's Biomarkers Standardization Initiative. Alzheimers Dement. 2012;8:65–73.
   PubMed Web of Science ®Google Scholar
• Brooks BR, Miller RG, Swash M, Munsat TL. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000;1:293–9.
   PubMed Web of Science ®Google Scholar
• Teunissen CE, Petzold A, Bennett JL, Berven FS, Brundin L, Comabella M, et al. A consensus protocol for the standardization of cerebrospinal fluid collection and biobanking. Neurology. 2009;73:1914–22.
   PubMed Web of Science ®Google Scholar
• Perret-Liaudet A, Pelpel M, Tholance Y, Dumont B, Vanderstichele H, Zorzi W, et al. Risk of Alzheimer’s disease biological misdiagnosis linked to cerebrospinal collection tubes. J Alzheimers Dis. 2012;31:13–20.
   PubMed Web of Science ®Google Scholar
• Petzold A. Neurofilament phosphoforms: surrogate markers for axonal injury, degeneration and loss. J Neurol Sci. 2005;233:183–98.
   PubMed Web of Science ®Google Scholar
• Puentes F, Topping J, Kuhle J, van der Star BJ, Douiri A, Giovannoni G, et al. Immune reactivity to neurofilament proteins in the clinical staging of amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2014;85:274–8.
   PubMed Web of Science ®Google Scholar
• Fialová L, Svarcová J, Bartos A, Ridzon P, Malbohan I, Keller O, et al. Cerebrospinal fluid and serum antibodies against neurofilaments in patients with amyotrophic lateral sclerosis. Eur J Neurol. 2010;17:562–6.
   PubMed Web of Science ®Google Scholar
• Koel-Simmelink MJA, Vennegoor A, Killestein J, Blankenstein MA, Norgren N, Korth C, et al. The impact of pre-analytical variables on the stability of neurofilament proteins in CSF, determined by a novel validated SinglePlex Luminex assay and ELISA. J Immunol Methods. 2014;402:43–9.
   PubMed Web of Science ®Google Scholar
• Koel-Simmelink MJA, Teunissen CE, Behradkia P, Blankenstein MA, Petzold A. The neurofilament light chain is not stable in vitro. Ann Neurol. 2011;69:1065–6; author reply 1066–7.
   PubMed Web of Science ®Google Scholar