Multicentre quality control evaluation of different biomarker candidates for amyotrophic lateral sclerosis

References

• Haverkamp LJ, Appel V, Appel SH. Natural history of amyotrophic lateral sclerosis in a database population. Validation of a scoring system and a model for survival prediction. Brain. 1995;118:707–19.
   Google Scholar
• Li TM, Alberman E, Swash M. Comparison of sporadic and familial disease among 580 cases of motor neuron disease. J Neurol Neurosurg Psychiatry. 1988;51:778–84.
   PubMed Web of Science ®Google Scholar
• Rowland LP, Shneider NA. Amyotrophic lateral sclerosis. N Engl J Med. 2001;344:1688–700.
   PubMed Web of Science ®Google Scholar
• Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;362:59–62.
   PubMed Web of Science ®Google Scholar
• Siddique T, Deng HX. Genetics of amyotrophic lateral sclerosis. Hum Mol Genet. 1996;5:1465–70.
   PubMed Web of Science ®Google Scholar
• Tarasiuk J, Kulakowska A, Drozdowski W, Kornhuber J, Lewczuk P. CSF markers in amyotrophic lateral sclerosis. J Neural Transm. 2012;119:747–57.
   PubMedGoogle Scholar
• Pasinetti GM, Ungar LH, Lange DJ, Yemul S, Deng H, Yuan X, et al. Identification of potential CSF biomarkers in ALS. Neurology. 2006;66:1218–22.
   PubMed Web of Science ®Google Scholar
• Ranganathan S, Williams E, Ganchev P, Gopalakrishnan V, Lacomis D, Urbinelli L, et al. Proteomic profiling of cerebrospinal fluid identifies biomarkers for amyotrophic lateral sclerosis. J Neurochem. 2005;95:1461–71.
   PubMed Web of Science ®Google Scholar
• Ryberg H, An J, Darko S, Lustgarten JL, Jaffa M, Gopalakrishnan V, et al. Discovery and verification of amyotrophic lateral sclerosis biomarkers by proteomics. Muscle Nerve. 2010;42:104–11.
   PubMed Web of Science ®Google Scholar
• Blasco H, Corcia P, Moreau C, Veau S, Fournier C, Vourc’h P, et al. 1H-NMR-based metabolomic profiling of CSF in early amyotrophic lateral sclerosis. PLoS One; 5:e13223.
   Google Scholar
• von Neuhoff N, Oumeraci T, Wolf T, Kollewe K, Bewerunge P, Neumann B, et al. Monitoring CSF proteome alterations in amyotrophic lateral sclerosis: obstacles and perspectives in translating a novel marker panel to the clinic. PLoS One;7:e44401.
   Google Scholar
• Sussmuth SD, Sperfeld AD, Hinz A, Brettschneider J, Endruhn S, Ludolph AC, et al. CSF glial markers correlate with survival in amyotrophic lateral sclerosis. Neurology. 2010;74:982–7.
   PubMed Web of Science ®Google Scholar
• Sussmuth SD, Tumani H, Ecker D, Ludolph AC. Amyotrophic lateral sclerosis: disease stage related changes of tau protein and S100 beta in cerebrospinal fluid and creatine kinase in serum. Neurosci Lett. 2003;353:57–60.
   PubMed Web of Science ®Google Scholar
• Taes I, Goris A, Lemmens R, van Es MA, van den Berg LH, Chio A, et al. Tau levels do not influence human ALS or motor neuron degeneration in the SOD1-G93A mouse. Neurology. 2010;74:1687–93.
   PubMedGoogle Scholar
• Bowser R, Turner MR, Shefner J. Biomarkers in amyotrophic lateral sclerosis: opportunities and limitations. Nat Rev Neurol. 2011;7:631–8.
   PubMed Web of Science ®Google Scholar
• Turner MR, Kiernan MC, Leigh PN, Talbot K. Biomarkers in amyotrophic lateral sclerosis. Lancet Neurol. 2009; 8:94–109.
   PubMed Web of Science ®Google Scholar
• Calingasan NY, Chen J, Kiaei M, Beal MF. Beta-amyloid 42 accumulation in the lumbar spinal cord motor neurons of amyotrophic lateral sclerosis patients. Neurobiol Dis. 2005;19:340–7.
   PubMed Web of Science ®Google Scholar
• Brettschneider J, Petzold A, Sussmuth 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
• Boillee S, Yamanaka K, Lobsiger CS, Copeland NG, Jenkins NA, Kassiotis G, et al. Onset and progression in inherited ALS determined by motor neurons and microglia. Science. 2006;312:1389–92.
   PubMed Web of Science ®Google Scholar
• Yamanaka K, Chun SJ, Boillee S, Fujimori-Tonou N, Yamashita H, Gutmann DH, et al. Astrocytes as determinants of disease progression in inherited amyotrophic lateral sclerosis. Nat Neurosci. 2008;11:251–3.
   PubMed Web of Science ®Google Scholar
• Irwin D, Lippa CF, Rosso A. Progranulin (PGRN) expression in ALS: an immunohistochemical study. J Neurol Sci. 2009;276:9–13.
   PubMedGoogle Scholar
• Philips T, de Muynck L, Thu HN, Weynants B, Vanacker P, Dhondt J, et al. Microglial up-regulation of progranulin as a marker of motor neuron degeneration. J Neuropathol Exp Neurol. 2010;69:1191–200.
   PubMed Web of Science ®Google Scholar
• Wilms H, Sievers J, Dengler R, Bufler J, Deuschl G, Lucius R. Intrathecal synthesis of monocyte chemoattractant protein-1 (MCP-1) in amyotrophic lateral sclerosis: further evidence for microglial activation in neurodegeneration. J Neuroimmunol. 2003;144:139–42.
   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
• Teunissen CE, Tumani HT, Bennett JL, Berven FS, Brundin L, Comabella M, et al. Short commentary on ‘a consensus protocol for the standardization of cerebrospinal fluid collection and biobanking’. Mult Scler. 2011;16: 129–32.
   Google Scholar
• Vicente E, Tramontina F, Leite MC, Nardin P, Silva M, Karkow AR, et al. S100B levels in the cerebrospinal fluid of rats are gender- and anaesthetic-dependent. Clin Exp Pharmacol Physiol. 2007;34:1126–30.
   PubMedGoogle Scholar
• Portela LV, Tort AB, Schaf DV, Ribeiro L, Nora DB, Walz R, et al. The serum S100B concentration is age dependent. Clin Chem. 2002;48:950–2.
   PubMed Web of Science ®Google Scholar
• Paladino P, Valentino F, Piccoli T, Piccoli F, La Bella V. Cerebrospinal fluid tau protein is not a biological marker in amyotrophic lateral sclerosis. Eur J Neurol. 2009;16: 257–61.
   PubMed Web of Science ®Google Scholar
• Bryson JB, Hobbs C, Parsons MJ, Bosch KD, Pandraud A, Walsh FS, et al. Amyloid precursor protein (APP) contributes to pathology in the SOD1-G93A mouse model of amyotrophic lateral sclerosis. Hum Mol Genet. 2012;21: 3871–82.
   PubMed Web of Science ®Google Scholar
• Steinacker P, Hendrich C, Sperfeld AD, Jesse S, Lehnert S, Pabst A, et al. Concentrations of beta-amyloid precursor protein processing products in cerebrospinal fluid of patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration. J Neural Transm. 2009; 116:1169–78.
   PubMedGoogle Scholar
• Herman AM, Khandelwal PJ, Stanczyk BB, Rebeck GW, Moussa CE. Beta-amyloid triggers ALS-associated TDP-43 pathology in AD models. Brain Res.* 2011;1386:191–9.
   Google Scholar
• Yoon EJ, Park HJ, Kim GY, Cho HM, Choi JH, Park HY, et al. Intracellular amyloid beta interacts with SOD1 and impairs the enzymatic activity of SOD1: implications for the pathogenesis of amyotrophic lateral sclerosis. Exp Mol Med. 2009;41:611–7.
   PubMedGoogle Scholar
• Mori F, Tanji K, Miki Y, Wakabayashi K. Decreased cystatin C immunoreactivity in spinal motor neurons and astrocytes in amyotrophic lateral sclerosis. J Neuropathol Exp Neurol. 2009;68:1200–6.
   PubMed Web of Science ®Google Scholar
• Wilson ME, Boumaza I, Lacomis D, Bowser R. Cystatin C: a candidate biomarker for amyotrophic lateral sclerosis. PLoS One;5:e15133.
   Google Scholar
• Carrette O, Burkhard PR, Hughes S, Hochstrasser DF, Sanchez JC. Truncated cystatin C in cerebrospiral fluid: technical (corrected) artefact or biological process?Proteomics. 2005;5:3060–5.
   PubMed Web of Science ®Google Scholar
• Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature. 2006;442:916–9.
   PubMed Web of Science ®Google Scholar
• Benussi L, Ghidoni R, Pegoiani E, Moretti DV, Zanetti O, Binetti G. Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide. Neurobiol Dis. 2009;33:379–85.
   PubMed Web of Science ®Google Scholar
• Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, Pirici D, et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature. 2006;442:920–4.
   PubMed Web of Science ®Google Scholar
• Cruts M, Kumar-Singh S, van Broeckhoven C. Progranulin mutations in ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Curr Alzheimer Res. 2006; 3:485–91.
   PubMedGoogle Scholar
• Lopez de Munain A, Alzualde A, Gorostidi A, Otaegui D, Ruiz-Martinez J, Indakoetxea B, et al. Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings. Biol Psychiatry. 2008;63:946–52.
   PubMed Web of Science ®Google Scholar
• Carecchio M, Fenoglio C, de Riz M, Guidi I, Comi C, Cortini F, et al. Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment converted to Alzheimer’s disease.J Neurol Sci. 2009;287:291–3.
   PubMed Web of Science ®Google Scholar
• Finch N, Baker M, Crook R, Swanson K, Kuntz K, Surtees R, et al. Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members. Brain. 2009;132:583–91.
   PubMed Web of Science ®Google Scholar
• Ghidoni R, Benussi L, Glionna M, Franzoni M, Binetti G. Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration. Neurology. 2008;71:1235–9.
   PubMed Web of Science ®Google Scholar
• Sleegers K, Brouwers N, van Damme P, Engelborghs S, Gijselinck I, van der Zee J, et al. Serum biomarker for progranulin-associated frontotemporal lobar degeneration. Ann Neurol. 2009;65:603–9.
   PubMed Web of Science ®Google Scholar
• Ishizuka K, Kimura T, Igata-yi R, Katsuragi S, Takamatsu J, Miyakawa T. Identification of monocyte chemoattractant protein-1 in senile plaques and reactive microglia of Alzheimer’s disease. Psychiatry Clin Neurosci. 1997; 51:135–8.
   PubMed Web of Science ®Google Scholar
• Ivacko J, Szaflarski J, Malinak C, Flory C, Warren JS, Silverstein FS. Hypoxic-ischaemic injury induces monocyte chemoattractant protein-1 expression in neonatal rat brain. J Cereb Blood Flow Metab. 1997;17:759–70.
   PubMed Web of Science ®Google Scholar
• Kelder W, McArthur JC, Nance-Sproson T, McClernon D, Griffin DE. Beta-chemokines MCP-1 and RANTES are selectively increased in cerebrospinal fluid of patients with human immunodeficiency virus-associated dementia. Ann Neurol. 1998;44:831–5.
   PubMed Web of Science ®Google Scholar
• McManus C, Berman JW, Brett FM, Staunton H, Farrell M, Brosnan CF. MCP-1, MCP-2 and MCP-3 expression in multiple sclerosis lesions: an immunohistochemical and in-situ hybridization study. J Neuroimmunol. 1998;86:20–9.
   PubMed Web of Science ®Google Scholar
• Baron P, Bussini S, Cardin V, Corbo M, Conti G, Galimberti D, et al. Production of monocyte chemoattractant protein-1 in amyotrophic lateral sclerosis. Muscle Nerve. 2005;32:541–4.
   PubMed Web of Science ®Google Scholar
• Nagata T, Nagano I, Shiote M, Narai H, Murakami T, Hayashi T, et al. Elevation of MCP-1 and MCP-1/VEGF ratio in cerebrospinal fluid of amyotrophic lateral sclerosis patients. Neurol Res. 2007;29:772–6.
   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
• Boylan KB, Glass JD, Crook JE, Yang C, Thomas CS, Desaro P, et al. Phosphorylated neurofilament heavy subunit (pNF-H) in peripheral blood and CSF as a potential prognostic biomarker in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2013;84:467–72.
   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. Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases. 2012;13:1–10.
   PubMed Web of Science ®Google Scholar