The concept of FDG-PET endophenotype in Alzheimer's disease

Neurological Sciences

Volumn 32, Issue 4, 2011, Pages 559-569

  During, Emmanuel H ^a   Osorio, R S ^a,b   Elahi, F M ^c,d   Mosconi, L ^a   De Leon, M J ^a,e  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e NATHAN S KLINE INSTITUTE FOR PSYCHIATRIC RESEARCH   (United States)

Author keywords

Alzheimer's disease; Diagnosis; Endophenotype; FDG PET; Genetics; Preclinical

Indexed keywords

APOLIPOPROTEIN E4; FLUORODEOXYGLUCOSE F 18;

ALLELE; ALZHEIMER DISEASE; BRAIN METABOLISM; DIAGNOSTIC ACCURACY; ENDOPHENOTYPE; EPIGENETICS; FAMILY HISTORY; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC MARKER; GENETIC RISK; GENOTYPE; HETEROZYGOTE; HUMAN; PATHOPHYSIOLOGY; POSITRON EMISSION TOMOGRAPHY; PREDICTIVE VALUE; REVIEW;

ALZHEIMER DISEASE; CAUSALITY; ENDOPHENOTYPES; FLUORODEOXYGLUCOSE F18; GENETIC MARKERS; HUMANS; NEUROPROTECTIVE AGENTS; POSITRON-EMISSION TOMOGRAPHY; RADIOPHARMACEUTICALS;

EID: 80053957873     PISSN: 15901874     EISSN: 15903478     Source Type: Journal    
DOI: 10.1007/s10072-011-0633-1     Document Type: Review

References (95)

1. Brookmeyer R et al (2007) Forecasting the global burden of Alzheimer's disease. Alzheimers Dement 3(3):186-191 (Pubitemid 46825511)
2. Ohm TG et al (1995) Close-meshed prevalence rates of different stages as a tool to uncover the rate of Alzheimer's disease-related neurofibrillary changes. Neuroscience 64(1):209-217
3. Braak H, Braak E (1991) Neuropathological stageing of Alzheimer- related changes. Acta Neuropathol 82(4):239-259
4. Larson EB et al (2004) Survival after initial diagnosis of Alzheimer disease. Ann Intern Med 140(7):501-509
5. Mölsä PK, Marttila RJ, Rinne UK (1986) Survival and cause of death in Alzheimer's disease and multi-infarct dementia. Acta Neurol Scand 74(2):103-107 (Pubitemid 16016605)
6. Reiman EM (2007) Linking brain imaging and genomics in the study of Alzheimer's disease and aging. Ann N Y Acad Sci 1097: 94-113 (Pubitemid 47084888)
7. Bearden CE, Freimer NB (2006) Endophenotypes for psychiatric disorders: ready for primetime? Trends Genet 22(6):306-313 (Pubitemid 43794928)
8. Leboyer M et al (1998) Psychiatric genetics: search for phenotypes. Trends Neurosci 21(3):102-105 (Pubitemid 28080670)
9. Sunderland T et al (2006) Biomarkers in the diagnosis of Alzheimer's disease: are we ready? J Geriatr Psychiatry Neurol 19(3):172-179 (Pubitemid 44154857)
10. John B, Lewis KR (1966) Chromosome variability and geographic distribution in insects. Science 152(3723):711-721
11. Gottesman II, Shields J (1973) Genetic theorizing and schizophrenia. Br J Psychiatry 122(566):15-30
12. Gottesman II, Gould TD (2003) The endophenotype concept in psychiatry: etymology and strategic intentions. Am J Psychiatry 160(4):636-645 (Pubitemid 41079594)
13. Hasler G et al (2006) Toward constructing an endophenotype strategy for bipolar disorders. Biol Psychiatry 60(2):93-105 (Pubitemid 44026591)
14. Cadenhead KS et al (2000) Modulation of the startle response and startle laterality in relatives of schizophrenic patients and in subjects with schizotypal personality disorder: evidence of inhibitory deficits. Am J Psychiatry 157(10):1660-1668
15. Braff D, Geyer M, Swerdlow N (2001) Human studies of prepulse inhibition of startle: normal subjects, patient groups, and pharmacological studies. Psychopharmacology 156:234-258 (Pubitemid 32705488)
16. Braff D, Freedman R (2002) Endophenotypes in studies of the genetics of schizophrenia. In: Davis K et al (eds) Neuropsychopharamcology: the fifth generation of progress, 5th edn. Lippincott Williams and Wilkins, Philadelphia, pp 703-716
17. Diefendorf A, Dodge R (1908) An experimental study of the ocular reactions of the insane from photographic records. Brain 31:451-489
18. Lee K, Williams L (2000) Eye movement dysfunction as a biological marker of risk for schizophrenia. Aust N Z J 34(Suppl): 91-100
19. Freedman R et al (1997) Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus. Proc Natl Acad Sci USA 94:587-592 (Pubitemid 27053677)
20. Arolt V et al (1996) Eye tracking dysfunction is a putative phenotypic susceptibility marker of schizophrenia and maps to a locus on chromosome 6p in families with multiple occurrence of the disease. Am J Med Genet 67(6):564-579
21. Gasperoni TL et al (2003) Genetic linkage and association between chromosome 1q and working memory function in schizophrenia. Am J Med Genet B Neuropsychiatr Genet 116B(1):8-16 (Pubitemid 37063606)
22. Callicott JH et al (2003) Abnormal fMRI response of the dorsolateral prefrontal cortex in cognitively intact siblings of patients with schizophrenia. Am J Psychiatry 160(4):709-719 (Pubitemid 41079604)
23. Corder EH et al (1993) Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 261(5123):921-923 (Pubitemid 23275809)
24. Poirier J et al (1993) Apolipoprotein E polymorphism and Alzheimer's disease. Lancet 342(8873):697-699 (Pubitemid 23279761)
25. Cupples LA et al (2004) Estimating risk curves for first-degree relatives of patients with Alzheimer's disease: the REVEAL study. Genet Med. 6(4):192-196 (Pubitemid 39005858)
26. Bloss CS et al (2008) Decreased cognition in children with risk factors for Alzheimer's disease. Biol Psychiatry 64(10):904-906
27. Ponomareva NV, Korovaitseva GI, Rogaev EI (2008) EEG alterations in non-demented individuals related to apolipoprotein E genotype and to risk of Alzheimer disease. Neurobiol Aging 29(6):819-827 (Pubitemid 351601898)
28. Younkin SG et al (1998) Genetic elevation of plasma amyloid β protein in typical late onset Alzheimer's disease. Abstr Soc Neurosci 24:263
29. Sunderland T et al (2004) Cerebrospinal fluid beta-amyloid1-42 and tau in control subjects at risk for Alzheimer's disease: the effect of APOE epsilon4 allele. Biol Psychiatry 56(9):670-676 (Pubitemid 39446849)
30. Honea RA et al (2010) Reduced gray matter volume in normal adults with a maternal family history of Alzheimer disease. Neurology 74(2):113-120
31. Klunk WE et al (2004) Imaging brain amyloid in Alzheimer's disease with Pittsburgh Compound-B. Ann Neurol 55(3):306-319 (Pubitemid 38269583)
32. Reiman EM et al (2009) Fibrillar amyloid-beta burden in cognitively normal people at 3 levels of genetic risk for Alzheimer's disease. Proc Natl Acad Sci USA 106(16):6820-6825
33. Mosconi L et al (2010) Increased fibrillar amyloid-{beta} burden in normal individuals with a family history of late-onset Alzheimer's. Proc Natl Acad Sci USA 107(13):5949-5954
34. de Leon MJ et al (1983) Computed tomography and positron emission transaxial tomography evaluations of normal aging and Alzheimer's disease. J Cereb Blood Flow Metab 3(3):391-394 (Pubitemid 13017790)
35. Magistretti P et al (1999) Energy on demand. Science 283(5401): 496-497
36. Rocher AB et al (2003) Resting-state brain glucose utilization as measured by PET is directly related to regional synaptophysin levels: a study in baboons. Neuroimage 20(3):1894-1898 (Pubitemid 37468295)
37. de Leon MJ et al (2001) Prediction of cognitive decline in normal elderly subjects with 2-[(18)F]fluoro-2-deoxy-D-glucose/positronemission tomography (FDG/PET). Proc Natl Acad Sci USA 98(19):10966-10971 (Pubitemid 32878727)
38. De Santi S et al (2001) Hippocampal formation glucose metabolism and volume losses in MCI and AD. Neurobiol Aging 22(4):529-539 (Pubitemid 32607736)
39. Mosconi L et al (2008) Hippocampal hypometabolism predicts cognitive decline from normal aging. Neurobiol Aging 29(5): 676-692 (Pubitemid 351400830)
40. Herholz K et al (2002) Discrimination between Alzheimer dementia and controls by automated analysis of multicenter FDG PET. Neuroimage 17(1):302-316
41. Alexander GE et al (2002) Longitudinal PET evaluation of cerebral metabolic decline in dementia: a potential outcome measure in Alzheimer's disease treatment studies. Am J Psychiatry 159(5):738-745 (Pubitemid 34465046)
42. Mosconi L (2005) Brain glucose metabolism in the early and specific diagnosis of Alzheimer's disease. FDG-PET studies in MCI and AD. Eur J Nucl Med. Mol Imaging 32(4):486-510 (Pubitemid 40591181)
43. Li Y et al (2008) Regional analysis of FDG and PIB-PET images in normal aging, mild cognitive impairment, and Alzheimer's disease. Eur J Nucl Med Mol Imaging 35(12):2169-2181
44. Reisberg B et al (2008) Mild cognitive impairment (MCI): a historical perspective. Int Psychogeriatr 20(1):18-31 (Pubitemid 350256070)
45. Gauthier S et al (2006) Mild cognitive impairment. Lancet 367(9518):1262-1270
46. Nestor PJ et al (2003) Limbic hypometabolism in Alzheimer's disease and mild cognitive impairment. Ann Neurol 54(3):343-351 (Pubitemid 37072036)
47. Mosconi L et al (2005) Reduced hippocampal metabolism in MCI and AD: automated FDG-PET image analysis. Neurology 64(11): 1860-1867 (Pubitemid 40800698)
48. Mosconi L et al (2006) Visual rating of medial temporal lobe metabolism in mild cognitive impairment and Alzheimer's disease using FDG-PET. Eur J Nucl Med Mol Imaging 33(2):210-221 (Pubitemid 43152889)
49. Minoshima S et al (1997) Metabolic reduction in the posterior cingulate cortex in very early Alzheimer's disease. Ann Neurol 42(1):85-94 (Pubitemid 27304784)
50. Drzezga A et al (2003) Cerebral metabolic changes accompanying conversion of mild cognitive impairment into Alzheimer's disease: a PET follow-up study. Eur J Nucl Med Mol Imaging 30(8):1104-1113 (Pubitemid 36988222)
51. Mosconi L et al (2004) MCI conversion to dementia and the APOE genotype: a prediction study with FDG-PET. Neurology 63(12):2332-2340 (Pubitemid 40024346)
52. Drzezga A et al (2005) Prediction of individual clinical outcome in MCI by means of genetic assessment and (18)F-FDG PET. J Nucl Med 46(10):1625-1632 (Pubitemid 46211586)
53. Chételat G et al (2003) Mild cognitive impairment: can FDGPET predict who is to rapidly convert to Alzheimer's disease? Neurology 60(8):1374-1377 (Pubitemid 36461002)
54. Reiman EM, Langbaum JBS, Tariot PN (2010) Alzheimer's prevention initiative: a proposal to evaluate presymptomatic treatments as quickly as possible. Biomark Med 4(1):3-14
55. Small GW (2006) Diagnostic issues in dementia: neuroimaging as a surrogate marker of disease. J Geriatr Psychiatry Neurol 19(3):180-185 (Pubitemid 44154858)
56. Reiman EM et al (1996) Preclinical evidence of Alzheimer's disease in persons homozygous for the epsilon 4 allele for apolipoprotein E. N Engl J Med 334(12):752-758 (Pubitemid 26089356)
57. Small GW et al (2000) Cerebral metabolic and cognitive decline in persons at genetic risk for Alzheimer's disease. Proc Natl Acad Sci USA 97(11):6037-6042 (Pubitemid 30367519)
58. Reiman EM et al (2001) Declining brain activity in cognitively normal apolipoprotein E epsilon 4 heterozygotes: a foundation for using positron emission tomography to efficiently test treatments to prevent Alzheimer's disease. Proc Natl Acad Sci USA 98(6): 3334-3339 (Pubitemid 32220846)
59. Reiman EM et al (2004) Functional brain abnormalities in young adults at genetic risk for late-onset Alzheimer's dementia. Proc Natl Acad Sci USA 101(1):284-289 (Pubitemid 38084242)
60. Reiman EM et al (2005) Correlations between apolipoprotein E epsilon4 gene dose and brain-imaging measurements of regional hypometabolism. Proc Natl Acad Sci USA 102(23):8299-8302 (Pubitemid 40800083)
61. Rimajova M et al (2008) Fluoro-2-deoxy-D-glucose (FDG)-PET in APOEepsilon4 carriers in the Australian population. J Alzheimers Dis 13(2):137-146 (Pubitemid 352038521)
62. Mosconi L et al (2008) Hypometabolism and altered cerebrospinal fluid markers in normal apolipoprotein E E4 carriers with subjective memory complaints. Biol Psychiatry 63(6):609-618 (Pubitemid 351273189)
63. Small GW et al (1995) Apolipoprotein E type 4 allele and cerebral glucose metabolism in relatives at risk for familial Alzheimer disease. JAMA 273(12):942-947
64. Mosconi L et al (2007) Maternal family history of Alzheimer's disease predisposes to reduced brain glucose metabolism. Proc Natl Acad Sci USA 104(48):9067-9072
65. Mosconi L et al (2009) Declining brain glucose metabolism in normal individuals with a maternal history of Alzheimer disease. Neurology 72(6):513-520
66. GatzMet al (2006) Role of genes and environments for explaining Alzheimer disease. Arch Gen Psychiatry 63(2):168-174
67. Raber J, Huang Y, Ashford JW (2004) ApoE genotype accounts for the vast majority of AD risk and AD pathology. Neurobiol Aging 25(5):641-650 (Pubitemid 38686487)
68. Saunders AM et al (1993) Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. Neurology 43(8):1467-1472
69. Poirier J (1994) Apolipoprotein E in animal models of CNS injury and in Alzheimer's disease. Trends Neurosci 17(12):525-530
70. Holtzman DM et al (2000) Apolipoprotein E isoform-dependent amyloid deposition and neuritic degeneration in a mouse model of Alzheimer's disease. Proc Natl Acad Sci USA 97(6):2892-2897 (Pubitemid 30159268)
71. Bell RD et al (2007) Transport pathways for clearance of human Alzheimer's amyloid betapeptide and apolipoproteins E and J in the mouse central nervous system. J Cereb Blood Flow Metab 27:909-918 (Pubitemid 46659038)
72. Xu G et al (2008) The influence of parental history of Alzheimer's disease and apolipoprotein E 4 on the BOLD signal during recognition memory. Brain 132(2):383-391
73. Bookheimer SY et al (2000) Patterns of brain activation in people at risk for Alzheimer's disease. N Engl J Med 343(7):450-456 (Pubitemid 30646483)
74. Prince JA et al (2004) APOE epsilon4 allele is associated with reduced cerebrospinal fluid levels of Abeta42. Neurology 62(11): 2116-2118 (Pubitemid 38738236)
75. Morris JC et al (2010) APOE predicts amyloid-beta but not tau Alzheimer pathology in cognitively normal aging. Ann Neurol 67(1):122-131
76. Mosconi L et al (2010) Maternal transmission of Alzheimer's disease: prodromal metabolic phenotype and the search for genes. Hum Genomics 4(3):170-193
77. Edland SD et al (1996) Increased risk of dementia in mothers of Alzheimer's disease cases: evidence for maternal inheritance. Neurology 47(1):254-256 (Pubitemid 26243893)
78. Gómez-Tortosa E et al (2007) Variability of age at onset in siblings with familial Alzheimer disease. Arch Neurol 64(12): 1743-1748 (Pubitemid 350254936)
79. Parker WD, Filley CM, Parks JK (1990) Cytochrome oxidase deficiency in Alzheimer's disease. Neurology 40(8):1302-1303 (Pubitemid 20244999)
80. Swerdlow RH, Burns JM, Khan SM (2010) The Alzheimer's disease mitochondrial cascade hypothesis. J Alzheimers Dis 20(Suppl 2):S265-S279
81. Cardoso SM et al (2004) Mitochondria dysfunction of Alzheimer's disease cybrids enhances Abeta toxicity. J Neurochem 89(6):1417-1426 (Pubitemid 38802663)
82. Chen Y, Bidwell LC, Norton D (2006) Trait vs. state markers for schizophrenia: identification and characterization through visual processes. Curr Psychiatry Rev 2(4):431-438 (Pubitemid 44697207)
83. Jagust W et al (2006) Brain imaging evidence of preclinical Alzheimer's disease in normal aging. Ann Neurol 59(4):673-681
84. Mosconi L et al (2009) FDG-PET changes in brain glucose metabolism from normal cognition to pathologically verified Alzheimer's disease. Eur J Nucl Med Mol Imaging 36(5):811-822
85. Gómez-Isla T et al (1996) Profound loss of layer II entorhinal cortex neurons occurs in very mild Alzheimer's disease. J Neurosci 16(14):4491-4500 (Pubitemid 26243044)
86. Fjell AM et al (2008) Morphometric changes in the episodic memory network and tau pathologic features correlate with memory performance in patients with mild cognitive impairment. Am J Neuroradiol 29(6):1183-1189 (Pubitemid 351954891)
87. Jack CR et al (2009) Serial PIB and MRI in normal, mild cognitive impairment and Alzheimer's disease: implications for sequence of pathological events in Alzheimer's disease. Brain 132(Pt 5):1355-1365
88. Buckner RL et al (2009) Cortical hubs revealed by intrinsic functional connectivity: mapping, assessment of stability, and relation to Alzheimer's disease. J Neurosci 29(6):1860-1873
89. Raichle ME et al (2001) A default mode of brain function. Proc Natl Acad Sci USA 98(2):676-682 (Pubitemid 32105102)
90. Sleegers K et al (2010) The pursuit of susceptibility genes for Alzheimer's disease: progress and prospects. Trends Genet 26(2): 84-93
91. Glahn DC, Thompson PM, Blangero J (2007) Neuroimaging endophenotypes: strategies for finding genes influencing brain structure and function. Hum Brain Mapp 28:488-501 (Pubitemid 46849366)
92. Jun G. et al. (2010) Meta-analysis Confirms CR1, CLU, and PICALM as Alzheimer Disease Risk Loci and Reveals Interactions With APOE Genotypes. Arch Neurol (ahead of print)
93. Saykin AJ et al (2010) Alzheimer's disease neuroimaging initiative biomarkers as quantitative phenotypes: genetics core aims, progress, and plans. Alzheimer's Dement 6(3):265-273
94. Corder EH et al (1994) Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease. Nat Genet 7(2):180-184 (Pubitemid 24174658)
95. West HL, Rebeck GW, Hyman BT (1994) Frequency of the apolipoprotein E [epsilon] 2 allele is diminished in sporadic Alzheimer disease. Neurosci Lett 175(1-2):46-48