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

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Volumn 15, Issue 5-6, 2014, Pages 344-350

  Lehnert, Stefan ^a   Costa, Julia ^b   De Carvalho, Mamede ^c   Kirby, Janine ^d   Kuzma Kozakiewicz, Magdalena ^e   Morelli, Claudia ^f   Robberecht, Wim ^h   Shaw, Pamela ^d   Silani, Vincenzo ^f,g   Steinacker, Petra ^a   Tumani, Hayrettin ^a   Van Damme, Philip ^h   Ludolph, Albert ^a   Otto, Markus ^a  

^a UNIVERSITY OF ULM   (Germany)

^b INSTITUTO DE TECNOLOGIA QUÍMICA E BIOLÓGICA   (Portugal)

^c INSTITUTO DE MEDICINA MOLECULAR   (Portugal)

^d UNIVERSITY OF SHEFFIELD   (United Kingdom)

^e MEDICAL UNIVERSITY OF WARSAW   (Poland)

^f ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^g UNIVERSITY OF MILAN   (Italy)

^h UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

ALS; Amyloid beta; CSF biomarker; Cystatin C; MCP 1; Multicentre sample collection approach with centralized sample processing; Tau

Indexed keywords

AMYLOID BETA PROTEIN; BIOLOGICAL MARKER; CYSTATIN C; MONOCYTE CHEMOTACTIC PROTEIN 1; NEUROFILAMENT HEAVY CHAIN; PROGRANULIN; PROTEIN S100B; TAU PROTEIN; UNCLASSIFIED DRUG; AMYLOID BETA-PROTEIN (1-42); CCL2 PROTEIN, HUMAN; CST3 PROTEIN, HUMAN; NEUROFILAMENT PROTEIN; NEUROFILAMENT PROTEIN H; PEPTIDE FRAGMENT;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CEREBROSPINAL FLUID; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; HUMAN; HUMAN TISSUE; MALE; MOTONEURON; PRIORITY JOURNAL; PROTEIN CEREBROSPINAL FLUID LEVEL; PROTEIN PHOSPHORYLATION; AGED; CLINICAL TRIAL; MIDDLE AGED; MULTICENTER STUDY; NONPARAMETRIC TEST;

ADULT; AGED; AMYLOID BETA-PEPTIDES; AMYOTROPHIC LATERAL SCLEROSIS; BIOMARKERS; CHEMOKINE CCL2; CYSTATIN C; ENZYME-LINKED IMMUNOSORBENT ASSAY; FEMALE; HUMANS; MALE; MIDDLE AGED; NEUROFILAMENT PROTEINS; PEPTIDE FRAGMENTS; S100 CALCIUM BINDING PROTEIN BETA SUBUNIT; STATISTICS, NONPARAMETRIC; TAU PROTEINS;

EID: 84903564329     PISSN: 21678421     EISSN: 21679223     Source Type: Journal    
DOI: 10.3109/21678421.2014.884592     Document Type: Article

References (53)

1. 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
2. Li T M, Alberman E, Swash M. Comparison of sporadic and familial disease among 580 cases of motor neuron disease. JNeurol Neurosurg Psychiatry. 1988; 51: 778-84
3. Rowland LP, Shneider NA. Amyotrophic lateral sclerosis. NEngl J Med. 2001; 344: 1688-700
4. Rosen D R, Siddique T, Patterson D, Figlewicz D A, 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
5. Siddique T, Deng H X. Genetics of amyotrophic lateral sclerosis. Hum Mol Genet. 1996; 5: 1465-70
6. Tarasiuk J, Kulakowska A, Drozdowski W, Kornhuber J, Lewczuk P. CSF markers in amyotrophic lateral sclerosis. JNeural Transm. 2012; 119: 747-57
7. 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
8. 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. JNeurochem. 2005; 95: 1461-71
9. 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
10. 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
11. 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
12. Sussmuth SD, Sperfeld A D, 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
13. Sussmuth S D, 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
14. Taes I, Goris A, Lemmens R, van Es M A, 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
15. Bowser R, Turner M R, Shefner J. Biomarkers in amyotrophic lateral sclerosis: Opportunities and limitations. Nat Rev Neurol. 2011; 7: 631-8
16. Turner MR, Kiernan MC, Leigh PN, Talbot K. Biomarkers in amyotrophic lateral sclerosis. Lancet Neurol. 2009; 8: 94-109
17. 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
18. Brettschneider J, Petzold A, Sussmuth S D, Ludolph AC, Tumani H. Axonal damage markers in cerebrospinal fluid are increased in ALS. Neurology. 2006; 66: 852-6
19. 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
20. Yamanaka K, Chun S J, 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
21. Irwin D, Lippa CF, Rosso A. Progranulin (PGRN) expression in ALS: An immunohistochemical study. JNeurol Sci. 2009; 276: 9-13
22. Philips T, de Muynck L, Thu H N, Weynants B, Vanacker P, Dhondt J, et al. Microglial up-regulation of progranulin as a marker of motor neuron degeneration. JNeuropathol Exp Neurol. 2010; 69: 1191-200
23. 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. JNeuroimmunol. 2003; 144: 139-42
24. Teunissen C E, Petzold A, Bennett J L, Berven F S, Brundin L, Comabella M, et al. Aconsensus protocol for the standardization of cerebrospinal fluid collection and biobanking. Neurology. 2009; 73: 1914-22
25. 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
26. Vicente E, Tramontina F, Leite M C, 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
27. Portela L V, Tort AB, Schaf D V, Ribeiro L, Nora D B, Walz R, et al. The serum S100B concentration is age dependent. Clin Chem. 2002; 48: 950-2
28. 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
29. Bryson J B, 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
30. Steinacker P, Hendrich C, Sperfeld A D, 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. JNeural Transm. 2009; 116: 1169-78
31. Herman AM, Khandelwal P J, Stanczyk B B, Rebeck G W, Moussa CE. Beta-Amyloid triggers ALS-Associated TDP-43 pathology in AD models. Brain Res. 2011; 1386: 191-9
32. Yoon E J, Park H J, Kim G Y, Cho H M, Choi J H, Park H Y, 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
33. Mori F, Tanji K, Miki Y, Wakabayashi K. Decreased cystatin C immunoreactivity in spinal motor neurons and astrocytes in amyotrophic lateral sclerosis. JNeuropathol Exp Neurol. 2009; 68: 1200-6
34. Wilson M E, Boumaza I, Lacomis D, Bowser R. Cystatin C: A candidate biomarker for amyotrophic lateral sclerosis. PLoS One; 5: E15133
35. Carrette O, Burkhard P R, Hughes S, Hochstrasser D F, Sanchez JC. Truncated cystatin C in cerebrospiral fluid: Technical (corrected) artefact or biological process? Proteomics. 2005; 5: 3060-5
36. Baker M, Mackenzie I R, Pickering-Brown S M, 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
37. Benussi L, Ghidoni R, Pegoiani E, Moretti D V, Zanetti O, Binetti G. Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide. Neurobiol Dis. 2009; 33: 379-85
38. 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
39. 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
40. 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
41. 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. Acase with atypical onset as clinical amnestic Mild Cognitive Impairment converted to Alzheimer's disease. JNeurol Sci. 2009; 287: 291-3
42. 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
43. 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
44. 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
45. 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
46. 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. JCereb Blood Flow Metab. 1997; 17: 759-70
47. 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
48. 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. JNeuroimmunol. 1998; 86: 20-9
49. 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
50. 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
51. 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. JNeurochem. 2011; 117: 528-37
52. 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. JNeurol Neurosurg Psychiatry. 2013; 84: 467-72
53. 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