Pathways to Alzheimer's disease

Journal of Internal Medicine

Volumn 275, Issue 3, 2014, Pages 296-303

  Hardy, J ^a   Bogdanovic, N ^b   Winblad, B ^b   Portelius, E ^c   Andreasen, N ^b   Cedazo Minguez, A ^b   Zetterberg, H ^a,c  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b KAROLINSKA INSTITUTE   (Sweden)

^c UNIVERSITY OF GOTHENBURG   (Sweden)

Author keywords

Alzheimer's disease; Amyloid; Cell biology; Genetics; Tau

Indexed keywords

AMYLOID; AMYLOID PRECURSOR PROTEIN; APOLIPOPROTEIN E; AVAGACESTAT; BAPINEUZUMAB; CLUSTERIN; GAMMA SECRETASE INHIBITOR; IMMUNOGLOBULIN G1 ANTIBODY; NOTCH3 RECEPTOR; PRESENILIN; SEMAGACESTAT; SOLANEZUMAB;

ALZHEIMER DISEASE; ARTICLE; CELLULAR DISTRIBUTION; CEREBROSPINAL FLUID LEVEL; CHOLESTEROL METABOLISM; CHOLESTEROL SYNTHESIS; CHOLESTEROL TRANSPORT; CLINICAL PATHWAY; COMPLEMENT CLASSICAL PATHWAY; DRUG CLEARANCE; FOLLOW UP; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; INNATE IMMUNITY; NONHUMAN; PATHOGENESIS; PHASE 1 CLINICAL TRIAL (TOPIC); PHASE 2 CLINICAL TRIAL (TOPIC); PHASE 3 CLINICAL TRIAL (TOPIC); PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL (TOPIC); RISK FACTOR; SIGNAL TRANSDUCTION;

ALZHEIMER DISEASE; AMYLOID; AMYLOID BETA-PEPTIDES; BRAIN; EARLY MEDICAL INTERVENTION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOTHERAPY;

EID: 84896691913     PISSN: 09546820     EISSN: 13652796     Source Type: Journal    
DOI: 10.1111/joim.12192     Document Type: Article

References (58)

1. Glenner GG, Wong CW. Alzheimer's disease: initial report of the purification and characterization of a novel cerebrovascular amyloid protein. Biochem Biophys Res Commun 1984; 120: 885-90.
2. Hardy J, Allsop D. Amyloid deposition as the central event in the aetiology of Alzheimer's disease. Trends Pharmacol Sci 1991; 12: 383-8.
3. Selkoe DJ. The molecular pathology of Alzheimer's disease. Neuron 1991; 6: 487-98.
4. Hardy JA, Higgins GA. Alzheimer's disease: the amyloid cascade hypothesis. Science 1992; 256: 184-5.
5. Hardy J, Selkoe DJ. The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics. Science 2002; 297: 353-6.
6. Chavez-Gutierrez L, Bammens L, Benilova I et al. The mechanism of gamma-Secretase dysfunction in familial Alzheimer disease. EMBO J 2012; 31: 2261-74.
7. Karran E. Current status of vaccination therapies in Alzheimer's disease. J Neurochem 2012; 123: 647-51.
8. Coric V, van Dyck CH, Salloway S et al. Safety and tolerability of the gamma-secretase inhibitor avagacestat in a phase 2 study of mild to moderate Alzheimer disease. Arch Neurol 2012; 69: 1430-40.
9. Salloway S, Sperling R, Gilman S et al. A phase 2 multiple ascending dose trial of bapineuzumab in mild to moderate Alzheimer disease. Neurology 2009; 73: 2061-70.
10. Seubert P, Vigo-Pelfrey C, Esch F et al. Isolation and quantification of soluble Alzheimer's beta-peptide from biological fluids. Nature 1992; 359: 325-7.
11. Siemers ER, Friedrich S, Dean RA et al. Safety and changes in plasma and cerebrospinal fluid amyloid beta after a single administration of an amyloid beta monoclonal antibody in subjects with Alzheimer disease. Clin Neuropharmacol 2010; 33: 67-73.
12. Portelius E, Bogdanovic N, Gustavsson MK et al. Mass spectrometric characterization of brain amyloid beta isoform signatures in familial and sporadic Alzheimer's disease. Acta Neuropathol 2010; 120: 185-93.
13. Seubert P, Barbour R, Khan K et al. Antibody capture of soluble Abeta does not reduce cortical Abeta amyloidosis in the PDAPP mouse. Neurodegener Dis 2008; 5: 65-71.
14. Golde TE, Schneider LS, Koo EH. Anti-abeta therapeutics in Alzheimer's disease: the need for a paradigm shift. Neuron 2011; 69: 203-13.
15. Kauwe JS, Jacquart S, Chakraverty S et al. Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation. Ann Neurol 2007; 61: 446-53.
16. Cruchaga C, Haller G, Chakraverty S et al. Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families. PLoS One 2012; 7: e31039.
17. Jonsson T, Atwal JK, Steinberg S et al. A mutation in APP protects against Alzheimer's disease and age-related cognitive decline. Nature 2012; 488: 96-9.
18. Peacock ML, Warren JT Jr, Roses AD, Fink JK. Novel polymorphism in the A4 region of the amyloid precursor protein gene in a patient without Alzheimer's disease. Neurology 1993; 43: 1254-6.
19. Kero M, Paetau A, Polvikoski T et al. Amyloid precursor protein (APP) A673T mutation in the elderly Finnish population. Neurobiol Aging 2013; 34: 1518 e1-3.
20. Manolio TA, Collins FS, Cox NJ et al. Finding the missing heritability of complex diseases. Nature 2009; 461: 747-53.
21. Harold D, Abraham R, Hollingworth P et al. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet 2009; 41: 1088-93.
22. Hollingworth P, Harold D, Sims R et al. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet 2011; 43: 429-35.
23. Naj AC, Jun G, Beecham GW et al. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet 2011; 43: 436-41.
24. Jones L, Holmans PA, Hamshere ML et al. Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. PLoS One 2010; 5: e13950.
25. Rogaeva E, Meng Y, Lee JH et al. The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nat Genet 2007; 39: 168-77.
26. Guerreiro R, Wojtas A, Bras J et al. TREM2 variants in Alzheimer's disease. N Engl J Med 2013; 368: 117-27.
27. Cedazo-Minguez A. Apolipoprotein E and Alzheimer's disease: molecular mechanisms and therapeutic opportunities. J Cell Mol Med 2007; 11: 1227-38.
28. Reiman EM, Chen K, Liu X et al. Fibrillar amyloid-beta burden in cognitively normal people at 3 levels of genetic risk for Alzheimer's disease. Proc Natl Acad Sci U S A 2009; 106: 6820-5.
29. Castellano JM, Kim J, Stewart FR et al. Human apoE isoforms differentially regulate brain amyloid-beta peptide clearance. Sci Transl Med 2011;3:89ra57.
30. Bales KR, Liu F, Wu S et al. Human APOE isoform-dependent effects on brain beta-amyloid levels in PDAPP transgenic mice. J Neurosci 2009; 29: 6771-9.
31. Liu CC, Kanekiyo T, Xu H, Bu G. Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy. Nat Rev Neurol 2013; 9: 106-18.
32. Kivipelto M, Rovio S, Ngandu T et al. Apolipoprotein E epsilon4 magnifies lifestyle risks for dementia: a population-based study. J Cell Mol Med 2008; 12: 2762-71.
33. Maioli S, Puerta E, Merino-Serrais P et al. Combination of apolipoprotein E4 and high carbohydrate diet reduces hippocampal BDNF and arc levels and impairs memory in young mice. J Alzheimers Dis 2012; 32: 341-55.
34. Riddell DR, Christie G, Hussain I, Dingwall C. Compartmentalization of beta-secretase (Asp2) into low-buoyant density, noncaveolar lipid rafts. Curr Biol 2001; 11: 1288-93.
35. Liu Q, Zerbinatti CV, Zhang J et al. Amyloid precursor protein regulates brain apolipoprotein E and cholesterol metabolism through lipoprotein receptor LRP1. Neuron 2007; 56: 66-78.
36. Jiang Q, Lee CY, Mandrekar S et al. ApoE promotes the proteolytic degradation of Abeta. Neuron 2008; 58: 681-93.
37. Deane R, Sagare A, Hamm K et al. apoE isoform-specific disruption of amyloid beta peptide clearance from mouse brain. J Clin Invest 2008; 118: 4002-13.
38. Wang H, Anderson LG, Lascola CD et al. Apolipoprotein E mimetic peptides improve outcome after focal ischemia. Exp Neurol 2013; 241: 67-74.
39. Ghosal K, Stathopoulos A, Thomas D, Phenis D, Vitek MP, Pimplikar SW. The apolipoprotein-E-Mimetic COG112 protects amyloid precursor protein intracellular domain-overexpressing animals from Alzheimer's disease-like pathological features. Neurodegener Dis. 2013; 12: 51-8.
40. Cramer PE, Cirrito JR, Wesson DW et al. ApoE-directed therapeutics rapidly clear beta-amyloid and reverse deficits in AD mouse models. Science 2012; 335: 1503-6.
41. Barrett PJ, Song Y, Van Horn WD et al. The amyloid precursor protein has a flexible transmembrane domain and binds cholesterol. Science 2012; 336: 1168-71.
42. Pierrot N, Tyteca D, D'Auria L et al. Amyloid precursor protein controls cholesterol turnover needed for neuronal activity. EMBO Mol Med 2013; 5: 608-25.
43. Bjorkhem I, Leoni V, Meaney S. Genetic connections between neurological disorders and cholesterol metabolism. J Lipid Res 2010; 51: 2489-503.
44. Bettens K, Sleegers K, Van Broeckhoven C. Genetic insights in Alzheimer's disease. Lancet Neurol 2013; 12: 92-104.
45. McGeer PL, McGeer EG. The possible role of complement activation in Alzheimer disease. Trends Mol Med 2002; 8: 519-23.
46. Velazquez P, Cribbs DH, Poulos TL, Tenner AJ. Aspartate residue 7 in amyloid beta-protein is critical for classical complement pathway activation: implications for Alzheimer's disease pathogenesis. Nat Med 1997; 3: 77-9.
47. Rogers J, Cooper NR, Webster S et al. Complement activation by beta-amyloid in Alzheimer disease. Proc Natl Acad Sci U S A 1992; 89: 10016-20.
48. Rogers J, Schultz J, Brachova L et al. Complement activation and beta-amyloid-mediated neurotoxicity in Alzheimer's disease. Res Immunol 1992; 143: 624-30.
49. Okello A, Koivunen J, Edison P et al. Conversion of amyloid positive and negative MCI to AD over 3 years: an 11C-PIB PET study. Neurology 2009; 73: 754-60.
50. Okello A, Edison P, Archer HA et al. Microglial activation and amyloid deposition in mild cognitive impairment: a PET study. Neurology 2009; 72: 56-62.
51. Daborg J, Andreasson U, Pekna M et al. Cerebrospinal fluid levels of complement proteins C3, C4 and CR1 in Alzheimer's disease. J Neural Transm 2012; 119: 789-97.
52. Mattsson N, Tabatabaei S, Johansson P et al. Cerebrospinal fluid microglial markers in Alzheimer's disease: elevated chitotriosidase activity but lack of diagnostic utility. Neuromolecular Med 2011; 13: 151-9.
53. Craig-Schapiro R, Perrin RJ, Roe CM et al. YKL-40: a novel prognostic fluid biomarker for preclinical Alzheimer's disease. Biol Psychiatry 2010; 68: 903-12.
54. Jonsson T, Stefansson H, Steinberg S et al. Variant of TREM2 associated with the risk of Alzheimer's disease. N Engl J Med 2013; 368: 107-16.
55. Jiang T, Yu JT, Zhu XC, Tan L. TREM2 in Alzheimer's disease. Mol Neurobiol 2013; 48: 180-5.
56. Pottier C, Hannequin D, Coutant S et al. High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease. Mol Psychiatry 2012; 17: 875-9.
57. Guerreiro RJ, Lohmann E, Kinsella E et al. Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease. Neurobiol Aging 2012; 33: 1008 e17-23.
58. Hardy J, Revesz T. The spread of neurodegenerative disease. N Engl J Med 2012; 366: 2126-8.