Genetics and dementia nosology

Journal of Geriatric Psychiatry and Neurology

Volumn 19, Issue 3, 2006, Pages 186-191

  Blacker, Deborah ^a,b   Lovestone, Simon ^c  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^c KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Alzheimer's disease; Dementia; DSM V; Genetics

Indexed keywords

AMYLOID PRECURSOR PROTEIN; APOLIPOPROTEIN E; PRESENILIN 1; PRESENILIN 2; PRION PROTEIN; TAU PROTEIN;

AGING; ALZHEIMER DISEASE; COGNITIVE DEFECT; CREUTZFELDT JAKOB DISEASE; DEMENTIA; DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS; DISEASE CLASSIFICATION; FAMILY HISTORY; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENETICS; HUMAN; MEDICAL RESEARCH; MILD COGNITIVE IMPAIRMENT; ONSET AGE; PRIORITY JOURNAL; REVIEW; SEGREGATION ANALYSIS; SENSITIVITY AND SPECIFICITY;

ADULT; AGING; ALZHEIMER DISEASE; DEMENTIA; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MIDDLE AGED; RISK FACTORS;

EID: 33746597758     PISSN: 08919887     EISSN: 15525708     Source Type: Journal    
DOI: 10.1177/0891988706291091     Document Type: Review

References (65)

1. Payami H, Grimslid H, Oken B, et al. A prospective study of cognitive health in the elderly (Oregon Brain Aging Study): effects of family history and Apolipoprotein E genotype. Am J Hum Genet 1997; 60:948-956.
2. Farrer LA, O'Sullivan D, Cupples LA, et al. Assessment of genetic risk for Alzheimer's disease among first-degree relatives. Ann Neurol 1989; 25:485-493.
3. Farrer LA, Myers RH, Cupples LA, et al. Transmission and age-at-onset patterns in familial Alzheimer's disease: evidence for heterogeneity. Neurology 1990; 38:395-403.
4. Bergem AL, Engedal K, Kringlen EL. The role of heredity in late-onset Alzheimer disease and vascular dementia: a twin study. Arch Gen Psychiatry 1997; 54:264-270.
5. Breitner JCS, Welsh KA, Gau BA, et al. Alzheimer's disease in the National Academy of Sciences-National Research Council Registry of Aging Twin Veterans: III. Detection of cases, longitudinal results and observations on twin concordance. Arch Neurol 1995; 52:763-771.
6. Raiha I, Kaprio J, Kosenvuo M, et al. Alzheimer's disease in twins. Biomed Pharmacother 1997; 51:101-04.
7. Lautenschlager NT, Cupples LA, Rao VS, et al. Risk of dementia among relatives of Alzheimer's disease patients in the MIRAGE study: what is in store for the oldest old? Neurology 1996; 46:641-650.
8. Silverman JM, Li G, Zaccario ML, et al. Patterns of risk in first-degree relatives of patients with Alzheimer's disease. Arch Gen Psychol 1994; 51:577-586.
9. Goate AM, Chartier-Harlin MC, Mullan MC, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 1991; 349:704-706.
10. Tanzi R, Gusella JF, Watkins PC, et al. The amyloid beta protein gene: cDNA cloning, mRNA distribution, and genetic linkage near the Alzheimer locus. Science 1987; 235:880-884.
11. Alzheimer Disease & Frontotemporal Dementia Mutation Database. Available at: http://www.molgen.ua.ac.be/ADMutations/default.cfm?MT=1&ML= 3&Page=MutByPublication. Accessed March 29, 2006.
12. Sorbi S, Nacmias B, Forleo P, et al. Epistatic effect of APP717 mutation and apolipoprotein E genotype in familial Alzheimer's disease. Ann Neurol 1993; 38:124-127.
13. Schellenberg GD, Bird TD, Wijsman EM, et al.: Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science 1992; 258: 668-671.
14. Sherrington R, Rogaev EI, Liang Y, et al. Cloning of a novel gene bearing missense mutations in early familial Alzheimer disease. Nature 1995; 375:754-760.
15. Van Broeckhoven C, Backhovens H, Cruts M, et al. APOE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease. Neurosci Lett 1994; 169:179-180.
16. Tanzi RE, Kovacs DM, Kim T-W. The gene defects responsible for familial Alzheimer's disease. Neurobiol Dis 1996; 3:159-168.
17. Rogaeva EA, Fafel KC, Song YQ, et al. Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology 2001; 57:621-625.
18. Rogaev EI, Sherrington R, Rogaeva EA, et al. Familial Alzheimer's disease in kindreds with missense mutation in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature 1995; 376:775-778.
19. Levy-Lehad E, Wasco W, Poorkaj P, et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 1995; 269:973-977.
20. Wijsman EM, Daw EW, Yu X, et al. APOE and other loci affect age-at-onset in Alzheimer's disease families with PS2 mutation. Am J Med Genet B Neuropsychiatr Genet 2005; 132:14-20.
21. Strittmatter WJ, Saunders AM, Schmechel D, et al. Apolipoprotein E: high avidity binding to b-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc Natl Acad Sci U S A 1993; 90:1977-1981.
22. Saunders AM, Strittmatter WJ, Schmechel D, et al. Association of apolipoprotein E allele ε4 with late-onset familial and sporadic Alzheimer's disease. Neurology 1993; 43:1467-1472.
23. Farrer LA, Cupples LA, Haines JL, et al. Effects of age, sex, and ethnicity on the association between Apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. JAMA 1997; 278:1349-1356.
24. Myers RH, Schaefer EJ, Wilson PWF, et al. Apolipoprotein E4 associated with dementia in a population-based study: the Framingham Study. Neurology 1996; 45:673-677.
25. Breitner JCS, Wyse BW, Anthony JC, et al. APOE-ε4 count predicts age when prevalence of AD increases, then declines: The Cache County Study. Neurology 1999; 53:321-331.
26. Corder EH, Saunders AM, Risch NJ, et al. Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease. Nat Genet 1994; 7:180-184.
27. Meyer MR, Tschanz JT, Norton MC, et al. APOE genotype predicts when - not whether - one is predisposed to develop Alzheimer disease. Nat Genet 1998; 19:321-322.
28. Corder EH, Saunders AM, Strittmatter WJ, et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 1993; 261:921-923.
29. Daw EW, Payami H, Nemens EJ, et al. The number of trait loci in late-onset Alzheimer's disease. Am J Hum Genet 2000; 66:196-204.
30. Kamboh MI. Molecular genetics of late-onset Alzheimer's disease. Ann Hum Genet 2004; 68:381-404.
31. Bertram L, Tanzi L. Alzheimer's disease: one disorder, too many genes? Hum Mol Genet 2004; 13:R135-R141.
32. Bertram L, McQueen M, Mullin K, et al. The AlzGene Database. Alzheimer Research Forum. Available at: http://www.alzgene.org. Accessed March 23, 2006.
33. McKhann GM, Albert MS, Grossman M, et al. Work Group on Frontotemporal Dementia and Pick's Disease. Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease. Arch Neurol 2001; 58:1803-1809.
34. Bird T, Knopman D, VanSwieten J, et al. Epidemiology and genetics of frontotemporal dementia/Pick's disease. Ann Neurol 2003; 54(suppl 5):S29-S31.
35. Foster NL, Wilhelmsen K, Sima AAF, et al. Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference Ann Neurol 1997; 41:706-715.
36. Poorkaj P, Grossman M, Steinbart E, et al. Frequency of tau mutations in familial and sporadic cases of non-Alzheimer dementia. Arch Neurol 2001; 58:383-387.
37. Dermaut B, Kumar-Singh S, Engelborghs S, et al. A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. Ann Neurol 2004; 55:617-626.
38. Skibinski G, Parkinson NJ, Brown JM, et al. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet 2005; 37:806-808.
39. Gambetti P, Kong Q, Zou W, et al. Sporadic and familial CJD: classification and characterization. Br Med Bull 2003; 66:213-239.
40. Williamson J, LaRusse S. Genetics and genetic counseling: recommendations for Alzheimer's disease, frontotemporal dementia, and Creutzfeldt-Jakob disease. Curr Neurol Neurosci Rep 2004; 4:351-357.
41. McKhann G, Drachman D, Folstein M, et al. Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 1984; 34:939-944.
42. Knopman DS, DeKosky ST, Cummings JL, et al. Practice parameter: diagnosis of dementia (an evidence-based review) report of the quality standards subcommittee of the American Academy of Neurology. Neurology 2001;56:1143-1153.
43. Mayeux R, Saunders AM, Shea S, et al. Utility of the apolipoprotein E genotype in the diagnosis of Alzheimer's disease. New Engl J Med 1998; 338:506-511.
44. Ronald and Nancy Reagan Research Institute of the Alzheimer's Association and National Institute of Aging Working Group (Reagan Institute). Consensus Report of the Working Group on: "Molecular and Biochemical Markers of Alzheimer's Disease." Neurobiol Aging 1998; 19:109-116.
45. McKeith IG, Galasko D, Kosaka K, et al. Consensus guidelines for the clinical and pathologic diagnosis of dementia with Lewy bodies (DLB): report of the consortium on DLB international workshop. Neurology 1996; 47:1113-1124.
46. Chui HC, Victoroff JI, Margolin D, et al. Criteria for the diagnosis of ischemic vascular dementia proposed by the State of California Alzheimer's Disease Diagnostic and Treatment Centers. Neurology 1992;42:473-480.
47. Roman GC, Tatemichi TK, Erkinjuntti T, et al. Vascular dementia: diagnostic criteria for research studies. Report of the NIND-SAIREN International Workshop. Neurology 1993;43: 250-260.
48. Petersen RC, Smith GE, Waring SC, et al. Mild cognitive impairment: clinical characterization and outcome. Arch Neurol 1999; 56:303-308.
49. Tunstall N, Owen MJ, Williams J, et al. Familial influence on variation in age of onset and behavioural phenotype in Alzheimer's disease. Br J Psychiatry 2000; 176:156-159.
50. Sweet RA, Nimgaonkar VL, Devlin B, Jeste DV. Psychotic symptoms in Alzheimer's disease: evidence for a distinct phenotype. Med Psychiatry 2003; 8:383-392.
51. Sweet RA, Nimgaonkar VL, Devlin B, et al. Increased familial risk of the psychotic phenotype of Alzheimer disease. Neurology 2002; 58:907-911.
52. Bacanu SA, Devlin B, Chowdari KV, et al. Heritability of psychosis in Alzheimer disease. Am J Geriatr Psychiatry 2005; 13:624-627.
53. Neary D, Snowden JS, Gustafson L, et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 1998;51:1546-1554.
54. Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups. J Neurol Neurosurg Psychiatry 1994; 57:416-418.
55. Bird TD. Risks and benefits of DNA testing for neurogenetic disorders. Semin Neurol 1999; 19:253-259.
56. American College of Medical Genetics/American Society of Human Genetics (ACMG/ASHG) Working Group on ApoE and Alzheimer's Disease. Statement on use of apolipoprotein E testing for Alzheimer's disease. JAMA 1995; 274:1627-1629.
57. National Institute on Aging/Alzheimer's Association (NIA/ADA) Working Group. Apolipoprotein E Genotyping in Alzheimer's Disease Position Statement. Lancet 1996; 347:1091-1095.
58. McConnell LM, Koenig LM, Greely HT, et al. Genetic testing and Alzheimer disease: has the time come? Nature Med 1998; 4:757-759.
59. Steinbart EJ, Smith CO, Pookaj P, Bird TD. Impact of DNA testing for early-onset familiar Alzheimer disease and frontotemporal dementia. Arch Neurol 2001; 58:1828-1831.
60. Petersen RC, Bennett D. Mild cognitive impairment: is it Alzheimer's disease or not? J Alzheimers Dis 2005;7:241-245.
61. Petersen RC, Stevens JC, Ganguli M, et al. Practice parameter: early detection of dementia: mild cognitive impairment (an evidence-based review) Report of the Quality Standards Subcommittee of the American Academy of Neurology. Neurology 2001; 56:1133-1142.
62. Albert MS, Blacker D. Mild cognitive impairment and dementia, Ann Rev Clin Psychol. In press.
63. Petersen RC, Thomas RG, Grundman M, et al. Vitamin E and donepezil for the treatment of mild cognitive impairment. N Engl J Med 2005; 352:2379-2388.
64. Petersen RC, Smith GE, Ivnik RJ, et al. Apolipoprotein E status as a predictor of the development of Alzheimer's disease in memory-impaired individuals. JAMA 1995; 273:1274-1278.
65. Tierney MC, Szalai JP, Snow WG, et al. A prospective study of the clinical utility of APOE genotype in the prediction of outcome in patients with memory impairment. Neurology 1996; 46:149-154.