Toward precision medicine in Alzheimer's disease

Annals of Translational Medicine

Volumn 4, Issue 6, 2016, Pages

  Reitz, Christiane ^a,b,c  

^a Department of Medicine   (United States)

^b Vagelos College of Physicians and Surgeons   (United States)

^c NONE   (United States)

Author keywords

Alzheimer's disease (AD); Genomics; Precision medicine

Indexed keywords

AMYLOID BETA PROTEIN; AMYLOID BETA PROTEIN[1-42]; AMYLOID PRECURSOR PROTEIN; BETA SECRETASE; DONEPEZIL; FLORBETABEN; FLORBETAPIR F 18; FLUTEMETAMOL F 18; GALANTAMINE; GAMMA SECRETASE; MEMANTINE; PITTSBURGH COMPOUND B; RIVASTIGMINE; TAU PROTEIN;

ALZHEIMER DISEASE; ARTERIAL SPIN LABELING; ARTICLE; CEREBROVASCULAR DISEASE; DIFFUSE LEWY BODY DISEASE; DIFFUSION TENSOR IMAGING; GENE; GENE SEQUENCE; GENETIC RISK; GENETIC VARIABILITY; GENOME-WIDE ASSOCIATION STUDY; HUMAN; NEUROFIBRILLARY TANGLE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PERSONALIZED MEDICINE; RANDOMIZED CONTROLLED TRIAL (TOPIC); RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SPIN LABELING; TRAUMATIC BRAIN INJURY; WHOLE EXOME SEQUENCING; WHOLE GENOME SEQUENCING;

EID: 85006190500     PISSN: 23055839     EISSN: 23055847     Source Type: Journal    
DOI: 10.21037/atm.2016.03.05     Document Type: Article

References (57)

1. Siemieniuk RA, Guyatt GH. Corticosteroids in the treatment of community-acquired pneumonia: an evidence summary. Pol Arch Med Wewn 2015;125:570-5.
2. Sloane PD, Zimmerman S, Suchindran C, et al. The public health impact of Alzheimer's disease, 2000-2050:potential implication of treatment advances. Annu Rev Public Health 2002;23:213-31.
3. Duyckaerts C, Delatour B, Potier MC. Classification and basic pathology of Alzheimer disease. Acta Neuropathol 2009;118:5-36.
4. Gomperts SN, Rentz DM, Moran E, et al. Imaging amyloid deposition in Lewy body diseases. Neurology 2008;71:903-10.
5. Dugger BN, Serrano GE, Sue LI, et al. Presence of striatal amyloid plaques in Parkinson's disease dementia predicts concomitant Alzheimer's disease: usefulness for amyloid imaging. J Parkinsons Dis 2012;2:57-65.
6. Attems J, Jellinger KA. The overlap between vascular disease and Alzheimer's disease--lessons from pathology. BMC Med 2014;12:206.
7. Ertekin-Taner N. Genetics of Alzheimer's disease: a centennial review. Neurol Clin 2007;25:611-67, v.
8. 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.
9. Cruchaga C, Karch CM, Jin SC, et al. Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature 2014;505:550-4.
10. Guerreiro R, Wojtas A, Bras J, et al. TREM2 variants in Alzheimer's disease. N Engl J Med 2013;368:117-27.
11. 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.
12. Kim M, Suh J, Romano D, et al. Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate alpha-secretase activity. Hum Mol Genet 2009;18:3987-96.
13. Logue MW, Schu M, Vardarajan BN, et al. Two rare AKAP9 variants are associated with Alzheimer's disease in African Americans. Alzheimers Dement 2014;10:609-618.e11.
14. Harold D, Abraham R, Hollingworth P, et al. Genomewide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet 2009;41:1088-93.
15. 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.
16. Lambert JC, Heath S, Even G, et al. Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet 2009;41:1094-9.
17. Lambert JC, Ibrahim-Verbaas CA, Harold D, et al. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet 2013;45:1452-8.
18. 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.
19. Seshadri S, Fitzpatrick AL, Ikram MA, et al. Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA 2010;303:1832-40.
20. Tosto G, Fu H, Vardarajan BN, et al. F-box/LRR-repeat protein 7 is genetically associated with Alzheimer's disease. Ann Clin Transl Neurol 2015;2:810-20.
21. Reitz C. Genetic loci associated with Alzheimer's disease. Future Neurol 2014;9:119-122.
22. Pritchard JK. Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 2001;69:124-37.
23. Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature 2009;461:747-53.
24. Pendlebury ST, Rothwell PM. Prevalence, incidence, and factors associated with pre-stroke and post-stroke dementia: a systematic review and meta-analysis. Lancet Neurol 2009;8:1006-18.
25. Mayeux R, Ottman R, Maestre G, et al. Synergistic effects of traumatic head injury and apolipoprotein-epsilon 4 in patients with Alzheimer's disease. Neurology 1995;45:555-7.
26. Rasmusson DX, Brandt J, Martin DB, et al. Head injury as a risk factor in Alzheimer's disease. Brain Inj 1995;9:213-9.
27. Schofield PW, Tang M, Marder K, et al. Alzheimer's disease after remote head injury: an incidence study. J Neurol Neurosurg Psychiatry 1997;62:119-24.
28. Fleminger S, Oliver DL, Lovestone S, et al. Head injury as a risk factor for Alzheimer's disease: the evidence 10 years on; a partial replication. J Neurol Neurosurg Psychiatry 2003;74:857-62.
29. Mortimer JA, van Duijn CM, Chandra V, et al. Head trauma as a risk factor for Alzheimer's disease:a collaborative re-analysis of case-control studies. EURODEM Risk Factors Research Group. Int J Epidemiol 1991;20:S28-35.
30. Guo Z, Cupples LA, Kurz A, et al. Head injury and the risk of AD in the MIRAGE study. Neurology 2000;54:1316-23.
31. Mehta KM, Ott A, Kalmijn S, et al. Head trauma and risk of dementia and Alzheimer's disease: The Rotterdam Study. Neurology 1999;53:1959-62.
32. Plassman BL, Havlik RJ, Steffens DC, et al. Documented head injury in early adulthood and risk of Alzheimer's disease and other dementias. Neurology 2000;55:1158-66.
33. Hartman RE, Laurer H, Longhi L, et al. Apolipoprotein E4 influences amyloid deposition but not cell loss after traumatic brain injury in a mouse model of Alzheimer's disease. J Neurosci 2002;22:10083-7.
34. Franz G, Beer R, Kampfl A, et al. Amyloid beta 1-42 and tau in cerebrospinal fluid after severe traumatic brain injury. Neurology 2003;60:1457-61.
35. Fratiglioni L, Wang HX. Brain reserve hypothesis in dementia. J Alzheimers Dis 2007;12:11-22.
36. Carlson MC, Helms MJ, Steffens DC, et al. Midlife activity predicts risk of dementia in older male twin pairs. Alzheimers Dement 2008;4:324-31.
37. Acevedo A, Loewenstein DA. Nonpharmacological cognitive interventions in aging and dementia. J Geriatr Psychiatry Neurol 2007;20:239-49.
38. Rose SE, Chen F, Chalk JB, et al. Loss of connectivity in Alzheimer's disease: an evaluation of white matter tract integrity with colour coded MR diffusion tensor imaging. J Neurol Neurosurg Psychiatry 2000;69:528-30.
39. Stebbins GT, Murphy CM. Diffusion tensor imaging in Alzheimer's disease and mild cognitive impairment. Behav Neurol 2009;21:39-49.
40. Zhang Y, Schuff N, Jahng GH, et al. Diffusion tensor imaging of cingulum fibers in mild cognitive impairment and Alzheimer disease. Neurology 2007;68:13-9.
41. Medina D, DeToledo-Morrell L, Urresta F, et al. White matter changes in mild cognitive impairment and AD:A diffusion tensor imaging study. Neurobiol Aging 2006;27:663-72.
42. Fellgiebel A, Wille P, Müller MJ, et al. Ultrastructural hippocampal and white matter alterations in mild cognitive impairment: a diffusion tensor imaging study. Dement Geriatr Cogn Disord 2004;18:101-8.
43. Ringman JM, Younkin SG, Pratico D, et al. Biochemical markers in persons with preclinical familial Alzheimer disease. Neurology 2008;71:85-92.
44. Alsop DC, Detre JA, Grossman M, et al. Assessment of cerebral blood flow in Alzheimer's disease by spin-labeled magnetic resonance imaging. Ann Neurol 2000;47:93-100.
45. Chen Y, Wolk DA, Reddin JS, et al. Voxel-level comparison of arterial spin-labeled perfusion MRI and FDG-PET in Alzheimer disease. Neurology 2011;77:1977-85.
46. Johnson NA, Jahng GH, Weiner MW, et al. Pattern of cerebral hypoperfusion in Alzheimer disease and mild cognitive impairment measured with arterial spin-labeling MR imaging: initial experience. Radiology 2005;234:851-9.
47. Landau SM, Harvey D, Madison CM, et al. Associations between cognitive, functional, and FDG-PET measures of decline in AD and MCI. Neurobiol Aging 2011;32:1207-18.
48. Langbaum JB, Chen K, Lee W, et al. Categorical and correlational analyses of baseline fluorodeoxyglucose positron emission tomography images from the Alzheimer's Disease Neuroimaging Initiative (ADNI). Neuroimage 2009;45:1107-16.
49. Edison P, Archer HA, Gerhard A, et al. Microglia, amyloid, and cognition in Alzheimer's disease: An [11C](R) PK11195-PET and [11C]PIB-PET study. Neurobiol Dis 2008;32:412-9.
50. Klunk WE, Engler H, Nordberg A, et al. Imaging brain amyloid in Alzheimer's disease with Pittsburgh Compound-B. Ann Neurol 2004;55:306-19.
51. Rowe CC, Ng S, Ackermann U, et al. Imaging betaamyloid burden in aging and dementia. Neurology 2007;68:1718-25.
52. Ewers M, Zhong Z, Bürger K, et al. Increased CSF-BACE 1 activity is associated with ApoE-epsilon 4 genotype in subjects with mild cognitive impairment and Alzheimer's disease. Brain 2008;131:1252-8.
53. Moulder KL, Snider BJ, Mills SL, et al. Dominantly Inherited Alzheimer Network: facilitating research and clinical trials. Alzheimers Res Ther 2013;5:48.
54. Reiman EM, Langbaum JB, Fleisher AS, et al. Alzheimer's Prevention Initiative: a plan to accelerate the evaluation of presymptomatic treatments. J Alzheimers Dis 2011;26:321-9.
55. Sperling RA, Aisen PS, Beckett LA, et al. Toward defining the preclinical stages of Alzheimer's disease:recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement 2011;7:280-92.
56. Mills SM, Mallmann J, Santacruz AM, et al. Preclinical trials in autosomal dominant AD: implementation of the DIAN-TU trial. Rev Neurol (Paris) 2013;169:737-43.
57. Sperling RA, Rentz DM, Johnson KA, et al. The A4 study:stopping AD before symptoms begin? Sci Transl Med 2014;6:228fs13.