Exploring alzheimer molecular pathology in down's syndrome cerebrospinal fluid

Neurodegenerative Diseases

Volumn 14, Issue 2, 2014, Pages 98-106

  Portelius, Erik ^a   Soininen, Hilkka ^b   Andreasson, Ulf ^a   Zetterberg, Henrik ^a,c   Persson, Rita ^a   Karlsson, Gösta ^a   Blennow, Kaj ^a   Herukka, Sanna Kaisa ^b   Mattsson, Niklas ^a,d,e  

^a SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^b UNIVERSITY OF EASTERN FINLAND   (Finland)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d VETERANS AFFAIRS MEDICAL CENTER   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Alzheimer's disease; Amyloid ; Down's syndrome; Orexin A; Tau; YKL 40

Indexed keywords

AMYLOID BETA PROTEIN; AMYLOID BETA PROTEIN X-38; AMYLOID BETA PROTEIN X-40; AMYLOID BETA PROTEIN X-42; AMYLOID BETA PROTEIN[1-42]; AMYLOID PRECURSOR PROTEIN; AMYLOID PRECURSOR PROTEIN ALPHA; AMYLOID PRECURSOR PROTEIN BETA; GLYCOPROTEIN; MONOCYTE CHEMOTACTIC PROTEIN 1; OREXIN A; TAU PROTEIN; UNCLASSIFIED DRUG; BIOLOGICAL MARKER; NEUROPEPTIDE; OREXINS; SIGNAL PEPTIDE;

ADULT; ALZHEIMER DISEASE; AMYLOIDOSIS; ARTICLE; CELL ACTIVATION; CEREBRAL AMYLOIDOSIS; CEREBROSPINAL FLUID; CLINICAL ARTICLE; CONTROLLED STUDY; DOWN SYNDROME; FEMALE; HUMAN; MALE; MICROGLIA; MOLECULAR PATHOLOGY; NERVE FIBER DEGENERATION; PRIORITY JOURNAL; PROTEIN CEREBROSPINAL FLUID LEVEL; PROTEIN METABOLISM; IMMUNOASSAY; LUMBAR PUNCTURE; MAJOR CLINICAL STUDY; METABOLISM; SLEEP DISORDER; UNIVERSITY HOSPITAL; AGE; COMPLICATION; MIDDLE AGED; PHOSPHORYLATION;

ADULT; AGE FACTORS; ALZHEIMER DISEASE; AMYLOID BETA-PEPTIDES; AMYLOID BETA-PROTEIN PRECURSOR; BIOLOGICAL MARKERS; DOWN SYNDROME; FEMALE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MICROGLIA; MIDDLE AGED; NEUROPEPTIDES; PHOSPHORYLATION; TAU PROTEINS;

EID: 84901288467     PISSN: 16602854     EISSN: 16602862     Source Type: Journal    
DOI: 10.1159/000358800     Document Type: Article

References (47)

1. Down J: Observations on an ethnic classification of idiots. London Hospital Reports 1866; 3: 259-262.
2. Lemere CA, Blusztajn JK, Yamaguchi H, Wisniewski T, Saido TC, Selkoe DJ: Sequence of deposition of heterogeneous amyloid betapeptides and APO E in Down syndrome: implications for initial events in amyloid plaque formation. Neurobiol Dis 1996; 3: 16-32.
3. Leverenz JB, Raskind MA: Early amyloid deposition in the medial temporal lobe of young Down syndrome patients: A regional quantitative analysis. Exp Neurol 1998; 150: 296-304.
4. Prasher VP, Farrer MJ, Kessling AM, Fisher EM, West RJ, Barber PC, Butler AC: Molecular mapping of Alzheimer-type dementia in Down's syndrome. Ann Neurol 1998; 43: 380-383.
5. Bush A, Beail N: Risk factors for dementia in people with Down syndrome: Issues in assessment and diagnosis. Am J Ment Retard 2004; 109: 83-97.
6. Blennow K, de Leon MJ, Zetterberg H: Alzheimer's disease. Lancet 2006; 368: 387-403.
7. Malamud N: Neuropathology of organic brain syndromes associated with aging; in Gaitz C (ed): Aging and the Brain. Adv Behav Biol, vol 3, Springer, 1995, pp 63-87.
8. Goldgaber D, Lerman MI, McBride OW, Saffiotti U, Gajdusek DC: Characterization and chromosomal localization of a cDNA encoding brain amyloid of Alzheimer's disease. Science 1987; 235: 877-880.
9. Robakis NK, Ramakrishna N, Wolfe G, Wisniewski HM: Molecular cloning and characterization of a cDNA encoding the cerebrovascular and the neuritic plaque amyloid peptides. Proc Natl Acad Sci USA 1987; 84: 4190-4194.
10. Tanzi RE, Gusella JF, Watkins PC, Bruns GA, St George-Hyslop P, Van Keuren ML, Patterson D, Pagan S, Kurnit DM, Neve RL: Amyloid beta protein gene: CDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. Science 1987; 235: 880-884.
11. Selkoe DJ: Alzheimer's disease: genes, proteins, and therapy. Physiol Rev 2001; 81: 741-766.
12. Dahlqvist A, Rask E, Rosenqvist CJ, Sahlin C, Franklin KA: Sleep apnea and Down's syndrome. Acta Otolaryngol 2003; 123: 1094-1097.
13. Diomedi M, Curatolo P, Scalise A, Placidi F, Caretto F, Gigli GL: Sleep abnormalities in mentally retarded autistic subjects: Down's syndrome with mental retardation and normal subjects. Brain Dev 1999; 21: 548-553.
14. Maas AP, Didden R, Korzilius H, Curfs LM: Exploration of differences in types of sleep disturbance and severity of sleep problems between individuals with Cri du Chat syndrome, Down's syndrome, and Jacobsen syndrome: A case control study. Res Dev Disabil 2012; 33: 1773-1779.
15. Landau SM, Lu M, Joshi AD, Pontecorvo M, Mintun MA, Trojanowski JQ, Shaw LM, Jagust WJ; Alzheimer's Disease Neuroimaging Initiative: Comparing positron emission tomography imaging and cerebrospinal fluid measurements of β-amyloid. Ann Neurol 2013; 74: 826-836.
16. Potter R, Patterson BW, Elbert DL, Ovod V, Kasten T, Sigurdson W, Mawuenyega K, Blazey T, Goate A, Chott R, Yarasheski KE, Holtzman DM, Morris JC, Benzinger TLS, Bateman RJ: Increased in vivo amyloid-β42 production, exchange, and loss in presenilin mutation carriers. Sci Transl Med 2013; 5: 189-177.
17. Tapiola T, Soininen H, Pirttila T: CSF tau and Abeta42 levels in patients with Down's syndrome. Neurology 2001; 56: 979-980.
18. Tamaoka A, Sekijima Y, Matsuno S, Tokuda T, Shoji S, Ikeda SI: Amyloid beta protein species in cerebrospinal fluid and in brain from patients with Down's syndrome. Ann Neurol 1999; 46: 933.
19. Portelius E, Mattsson N, Andreasson U, Blennow K, Zetterberg H: Novel Abeta isoforms in Alzheimer's disease-their role in diagnosis and treatment. Curr Pharm Des 2011; 17: 2594-2602.
20. Holtzman DM, Morris JC, Goate AM: Alzheimer's disease: the challenge of the second century. Sci Transl Med 2011; 3: 77-71.
21. Esch FS, Keim PS, Beattie EC, Blacher RW, Culwell AR, Oltersdorf T, McClure D, Ward PJ: Cleavage of amyloid beta peptide during constitutive processing of its precursor. Science 1990; 248: 1122-1124.
22. Kitazawa M, Yamasaki TR, LaFerla FM: Microglia as a potential bridge between the amyloid beta-peptide and tau. Ann NY Acad Sci 2004; 1035: 85-103.
23. Bonneh-Barkay D, Bissel SJ, Wang G, Fish KN, Nicholl GC, Darko SW, Medina-Flores R, Murphey-Corb M, Rajakumar PA, Nyaundi J, Mellors JW, Bowser R, Wiley CA: YKL-40, a marker of simian immunodeficiency virus encephalitis, modulates the biological activity of basic fibroblast growth factor. Am J Pathol 2008; 173: 130-143.
24. Sokolova A, Hill MD, Rahimi F, Warden LA, Halliday GM, Shepherd CE: Monocyte chemoattractant protein-1 plays a dominant role in the chronic inflammation observed in Alzheimer's disease. Brain Pathol 2009; 19: 392-398.
25. Cao M, Guilleminault C: Hypocretin and its emerging role as a target for treatment of sleep disorders. Curr Neurol Neurosci Rep 2011; 11: 227-234.
26. Kang JE, Lim MM, Bateman RJ, Lee JJ, Smyth LP, Cirrito JR, Fujiki N, Nishino S, Holtzman DM: Amyloid-beta dynamics are regulated by orexin and the sleep-wake cycle. Science 2009; 326: 1005-1007.
27. Slats D, Claassen JA, Lammers GJ, Melis RJ, Verbeek MM, Overeem S: Association between hypocretin-1 and amyloid-beta42 cerebrospinal fluid levels in Alzheimer's disease and healthy controls. Curr Alzheimer Res 2012; 9: 1119-1125.
28. Anckarsater R, Vasic N, Jideus L, Kristiansson M, Zetterberg H, Blennow K, Anckarsater H: Cerebrospinal fluid protein reactions during non-neurological surgery. Acta Neurol Scand 2007; 115: 254-259.
29. Blennow K, Wallin A, Agren H, Spenger C, Siegfried J, Vanmechelen E: Tau protein in cerebrospinal fluid: A biochemical marker for axonal degeneration in Alzheimer disease? Mol Chem Neuropathol 1995; 26: 231-245.
30. Vanmechelen E, Vanderstichele H, Davidsson P, Van Kerschaver E, Van Der Perre B, Sjogren M, Andreasen N, Blennow K: Quantification of tau phosphorylated at threonine 181 in human cerebrospinal fluid: a sandwich ELISA with a synthetic phosphopeptide for standardization. Neurosci Lett 2000; 285: 49-52.
31. Andreasen N, Hesse C, Davidsson P, Minthon L, Wallin A, Winblad B, Vanderstichele H, Vanmechelen E, Blennow K: Cerebrospinal fluid beta-amyloid(1-42) in Alzheimer disease: Differences between early-and lateonset Alzheimer disease and stability during the course of disease. Arch Neurol 1999; 56: 673-680.
32. Hunter WM, Greenwood FC: Preparation of iodine-131 labelled human growth hormone of high specific activity. Nature 1962; 194: 495-496.
33. Reiman EM, Quiroz YT, Fleisher AS, Chen K, Velez-Pardo C, Jimenez-Del-Rio M, Fagan AM, Shah AR, Alvarez S, Arbelaez A, Giraldo M, Acosta-Baena N, Sperling RA, Dickerson B, Stern CE, Tirado V, Munoz C, Reiman RA, Huentelman MJ, Alexander GE, Langbaum JB, Kosik KS, Tariot PN, Lopera F: Brain imaging and fluid biomarker analysis in young adults at genetic risk for autosomal dominant Alzheimer's disease in the presenilin 1 e280a kindred: A case-control study. Lancet Neurol 2012; 11: 1048-1056.
34. Jack CR Jr, Knopman DS, Jagust WJ, Petersen RC, Weiner MW, Aisen PS, Shaw LM, Vemuri P, Wiste HJ, Weigand SD, Lesnick TG, Pankratz VS, Donohue MC, Trojanowski JQ: Tracking pathophysiological processes in Alzheimer's disease: an updated hypothetical model of dynamic biomarkers. Lancet Neurol 2013; 12: 207-216.
35. Amor S, Puentes F, Baker D, van der Valk P: Inflammation in neurodegenerative diseases. Immunology 2010; 129: 154-169.
36. Glass CK, Saijo K, Winner B, Marchetto MC, Gage FH: Mechanisms underlying inflammation in neurodegeneration. Cell 2010; 140: 918-934.
37. Olsson B, Hertze J, Lautner R, Zetterberg H, Nagga K, Hoglund K, Basun H, Annas P, Lannfelt L, Andreasen N, Minthon L, Blennow K, Hansson O: Microglial markers are elevated in the prodromal phase of Alzheimer's disease and vascular dementia. J Alzheimers Dis 2013; 33: 45-53.
38. Craig-Schapiro R, Perrin RJ, Roe CM, Xiong C, Carter D, Cairns NJ, Mintun MA, Peskind ER, Li G, Galasko DR, Clark CM, Quinn JF, D'Angelo G, Malone JP, Townsend RR, Morris JC, Fagan AM, Holtzman DM: YKL-40: a novel prognostic fluid biomarker for preclinical Alzheimer's disease. Biol Psychiatry 2010; 68: 903-912.
39. Wilcock DM: Neuroinflammation in the aging Down syndrome brain; lessons from Alzheimer's disease. Curr Gerontol Geriatr Res 2012; 2012: 170-276.
40. Galimberti D, Schoonenboom N, Scarpini E, Scheltens P; Dutch-Italian Alzheimer Research Group: Chemokines in serum and cerebrospinal fluid of Alzheimer's disease patients. Ann Neurol 2003; 53: 547-548.
41. Mattsson N, Tabatabaei S, Johansson P, Hansson O, Andreasson U, Mansson JE, Johansson JO, Olsson B, Wallin A, Svensson J, Blennow K, Zetterberg H: Cerebrospinal fluid microglial markers in Alzheimer's disease: elevated chitotriosidase activity but lack of diagnostic utility. Neuromolecular Med 2011; 13: 151-159.
42. De Lecea L, Kilduff TS, Peyron C, Gao X, Foye PE, Danielson PE, Fukuhara C, Battenberg EL, Gautvik VT, Bartlett FS 2nd, Frankel WN, van den Pol AN, Bloom FE, Gautvik KM, Sutcliffe JG: The hypocretins: Hypothalamusspecific peptides with neuroexcitatory activity. Proc Natl Acad Sci USA 1998; 95: 322-327.
43. Sakurai T, Amemiya A, Ishii M, Matsuzaki I, Chemelli RM, Tanaka H, Williams SC, Richardson JA, Kozlowski GP, Wilson S, Arch JR, Buckingham RE, Haynes AC, Carr SA, Annan RS, McNulty DE, Liu WS, Terrett JA, Elshourbagy NA, Bergsma DJ, Yanagisawa M: Orexins and orexin receptors: a family of hypothalamic neuropeptides and G protein-coupled receptors that regulate feeding behavior. Cell 1998; 92: 573-585.
44. Baumann CR, Bassetti CL: Hypocretins (orexins) and sleep-wake disorders. Lancet Neurol 2005; 4: 673-682.
45. Huang Y, Potter R, Sigurdson W, Santacruz A, Shih S, Ju YE, Kasten T, Morris JC, Mintun M, Duntley S, Bateman RJ: Effects of age and amyloid deposition on abeta dynamics in the human central nervous system. Arch Neurol 2012; 69: 51-58.
46. Fronczek R, van Geest S, Frolich M, Overeem S, Roelandse FW, Lammers GJ, Swaab DF: Hypocretin (orexin) loss in Alzheimer's disease. Neurobiol Aging 2012; 33: 1642-1650.
47. Wennstrom M, Londos E, Minthon L, Nielsen HM: Altered CSF orexin and alpha-synuclein levels in dementia patients. J Alzheimers Dis 2012; 29: 125-132.