Molecular genetics of Alzheimer's disease

Acta Neurologica Scandinavica

Volumn 94, Issue SUPPL.165, 1996, Pages 13-17

  Hardy, John ^a  

^a UNIVERSITY OF SOUTH FLORIDA   (United States)

Author keywords

amyloid deposition; Alzheimer's disease; Amyloid precursor protein; Apolipoprotein E; Genotype

Indexed keywords

AMYLOID PRECURSOR PROTEIN; APOLIPOPROTEIN E;

ALZHEIMER DISEASE; GENETICS; HUMAN; MUTATION; REVIEW; CONFERENCE PAPER; GENETIC ANALYSIS; MOLECULAR BIOLOGY;

ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN PRECURSOR; APOLIPOPROTEINS E; HUMANS; MUTATION;

EID: 0029686444     PISSN: 00016314     EISSN: 16000404     Source Type: Journal    
DOI: 10.1111/j.1600-0404.1996.tb05867.x     Document Type: Article

References (52)

1. Blessed G., Tomlinson BE, Roth M. The association between quantitative measures of dementia and of senile change in the cerebral grey matter of elderly subjects. Br J Psychiatry 1968: 114: 797-811.
2. Pearson RCA, Powell TPS. The neuroanatomy of Alzheimer's disease. Rev Neurosci 1989: 2: 101-22.
3. Cork LC. Neuropathology of Down syndrome and Alzheimer disease. Am J Med Genet SUPPL 1990: 7: 282-86.
4. St. George-Hyslop PH, Myers RH et al. Familial Alzheimer's disease: progress and problems. Neurobiol Aging 1989: 10: 417-25.
5. Heston LL, Mastri AR, Anderson VE, White J. Dementia of the Alzheimer type. Clinical genetics, natural history, and associated conditions. Arch Gen Psychiatry 1981: 38: 1085-90.
6. Mohs RC, Breitner JC, Silverman JM, Davis KL. Alzheimer's disease. Morbid risk among first-degree relatives approximates 50% by 90 years of age. Arch Gen Psychiatry 1987: 44: 405-8.
7. St. George-Hyslop PH, Haines JL, Farrer LA et al. Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder. FAD Collaborative Study Group. Nature 1990: 347: 194-97.
8. Kang J., Lemaire HG, Unterbeck A. et al. The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor. Nature 1987: 325: 733-36.
9. Goate A., Chartier-Harlin MC, Mullan M. et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 1991: 349: 704-6.
10. Goate AM, Haynes AR, Owen MJ et al. Predisposing locus for Alzheimer's disease on chromosome 21. Lancet 1989: 1: 352-55.
11. Chartier-Harlin MC, Crawford F., Houlden H. et al. Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene. Nature 1991: 353: 844-46.
12. Hendriks L., van Duijn CM, Cras P. et al. Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. Nat Genet 1992: 1: 218-21.
13. Mullan M., Crawford F., Axelman K. et al. A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid. Nat Genet 1992: 1: 345-47.
14. Murrell J., Farlow M., Ghetti B., Benson MD. A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. Science 1991: 254: 97-99.
15. Levy E., Carman MD, Fernandez-Madrid IJ et al. Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. Science 1990: 248: 1124-26.
16. Van Broeckhoven C., Haan J., Bakker E. et al. Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch). Science 1990: 248: 1120-22.
17. Hardy J. Framing beta-amyloid. Nat Genet 1992: 1: 233-34.
18. Haass C., Schlossmacher MG, Hung AY et al. Amyloid beta-peptide is produced by cultured cells during normal metabolism. Nature 1992: 359: 322-35.
19. Hardy J., Mullan M. Alzheimer's disease. In search of the soluble. Nature 1992: 359: 268-69.
20. Seubert P., Oltersdorf T., Lee MG et al. Secretion of beta-amyloid precursor protein cleaved at the amino terminus of the beta-amyloid peptide. Nature 1993: 361: 260-63.
21. Cai XD, Golde TE, Younkin SG. Release of excess amyloid beta protein from a mutant amyloid beta protein precursor. Science 1993: 259: 514-16.
22. Citron M., Oltersdorf T., Haass C. et al. Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production. Nature 1992: 360: 672-74.
23. Haass C., Hung AY, Selkoe DJ, Teplow DB. Mutations associated with a locus for familial Alzheimer's disease result in alternative processing of amyloid beta-protein precursor. J Biol Chem 1994: 269: 17741-48.
24. Suzuki N., Cheung TT, Cai XD et al. An increased percentage of long amyloid beta-protein secreted by familial amyloid beta-protein precursor (beta APP717) mutants. Science 1994: 264: 1336-40.
25. Hardy J., Allsop D. Amyloid deposition as the central event in the aetiology of Alzheimer's disease. Trends Pharmacol Sci 1991: 12: 383-88.
26. Hardy JA, Higgins GA. Alzheimer's disease: the amyloid cascade hypothesis. Science 1992: 256: 184-85.
27. Selkoe DJ. The molecular pathology of Alzheimer's disease. Neuron 1991: 6: 487-98.
28. Strittmatter WJ, Saunders AM, Schmechel D. et al. Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc Natl Acad Sci USA 1993: 90: 1977-81.
29. Namba Y., Tomonaga M., Kawasaki H., Otomo E., Ikeda K. Apolipoprotein E immunoreactivity in cerebral amyloid deposits and neurofibrillary tangles in Alzheimer's disease and kuru plaque amyloid in Creutzfeldt-Jakob disease. Brain Res 1991: 541: 163-66.
30. Wisniewski T., Frangione B. Apolipoprotein E: a pathological chaperone protein in patients with cerebral and systemic amyloid. Neurosci Lett 1993: 135: 235-38.
31. Schellenberg GD, Deeb SS, Boehnke M. et al. Association of an apolipoprotein CII allele with familial dementia of the Alzheimer type. J Neurogenet 1987: 4: 97-108.
32. Pericak-Vance MA, Bebout JL, Gaskell PC Jr et al. Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage. Am J Hum Genet 1991: 48: 1034-50.
33. Davignon J., Gregg RE, Sing CF. Apolipoprotein E polymorphism and atherosclerosis. Arteriosclerosis 1988: 8: 1-21.
34. 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: 921-23.
35. 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: 1467-72.
36. Houlden H., Crook R., Duff K. et al. Confirmation that the apolipoprotein E4 allele is associated with late onset, familial Alzheimer's disease. Neurodegeneration 1993: 2: 283-86.
37. Houlden H., Collinge J., Kennedy A. et al. ApoE genotype and the age of onset in familial Alzheimer's disease. Lancet 1993: 342: 737-38.
38. 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: 179-80.
39. Chartier-Harlin MC, Parfitt M., Legrain S. et al. Apolipoprotein E, ε4 allele as a major risk factor for sporadic early and late-onset forms of Alzheimer's disease: analysis of the 19q13.2 chromosomal region. Hum Mol Genet 1994: 3: 569-74.
40. Talbot C., Lendon C., Craddock N., Shears S., Morris JC, Goate A. Protection against Alzheimer's disease with ApoE ε2 [letter]. Lancet 1994: 343: 1432-33.
41. 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: 180-84.
42. Schmechel DE, Saunders AM, Strittmatter WJ et al. Increased amyloid beta-peptide deposition in cerebral cortex as a consequence of apolipoprotein E genotype in late-onset Alzheimer disease. Proc Natl Acad Sci USA 1993: 90: 9649-53.
43. Strittmatter WJ, Weisgraber KH, Huang DY et al. Binding of human apolipoprotein E to synthetic amyloid beta peptide: isoform-specific effects and implications for late-onset Alzheimer disease. Proc Natl Acad Sci USA 1993: 90: 8098-102.
44. Hardy J. Genetic mistakes point the way for Alzheimer's disease. J NIH Res 1993: 5: 46-49.
45. Schellenberg GD, Bird TD, Wijsman EM et al. Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science 1992: 258: 668-71.
46. Mullan M., Houlden H., Windelspecht M. et al. A locus for familial early-onset Alzheimer's disease on the long arm of chromosome 14, proximal to the alpha 1-antichymotrypsin gene. Nat Genet 1992: 2: 340-42.
47. St. George-Hyslop P., Haines J., Rogaev E. et al. Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14. Nat Genet 1992: 2: 330-34.
48. Van Broeckhoven C., Backhovens H., Cruts M. et al. Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3. Nat Genet 1992: 2: 335-39.
49. Sherrington R., Rogeav EI, Liang Y. et al. Cloning of a gene bearing missense mutations in early onset Alzheimer's disease. Nature 1995: 375: 754-60.
50. Clarke R., Hutton M., Fuldner R. et al. The structure of and mutations in the S182 gene in Alzheimer's disease. Nature Genetics 1995: 11: 219-22.
51. Levy-Lehad E., Wijsman EM, Nemens E. et al. A familial Alzheimer's disease locus on chromosome 1. Science 1995: 268: 970-72.
52. Levy-Lehad E., Wasco W., Poorkal P. et al. Candidate locus for the chromosome 1 familial Alzheimer's disease locus. Science 1995: 268: 973-77.