Genes contributing to Alzheimer's disease

Molecular Psychiatry

Volumn 1, Issue 1, 1996, Pages 27-40

  Sandbrink, R ^a   Hartmann, T ^a   Masters, C L ^b   Beyreuther, K ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Amyloid precursor protein; ApoE; Dementia; Inheritance; Presenilin; Splicing

Indexed keywords

ALZHEIMER DISEASE; AMINO ACID SEQUENCE; GENETICS; HUMAN; MOLECULAR GENETICS; REVIEW;

ALZHEIMER DISEASE; AMINO ACID SEQUENCE; HUMANS; MOLECULAR SEQUENCE DATA;

EID: 0030090885     PISSN: 13594184     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (129)

1. McKhann G et al. Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of the Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 1984; 34: 939-944.
2. Alzheimer A. Über eine eigenartige Erkrankung der Hirnrinde. Allg Z Psychiatrie Psychisch-Gerichtl Med 1907; 64: 146-148.
3. Khachaturian ZS. Diagnosis of Alzheimer's disease. Arch Neurol 1985; 42: 1097-1105.
4. McKee AC, Kosik KS, Kowall NW. Neuritic pathology and dementia in Alzheimer's disease. Ann Neurol 1991; 30: 156-165.
5. Arriagada PV, Growdon JH, Hedley-Whyte ET, Hyman BT. Neurofibrillary tangles but not senile plaques parallel duration and severity of Alzheimer's disease. Neurology 1992; 42: 631-639.
6. Lee VM, Trojanowski JQ. The disordered neuronal cytoskeleton in Alzheimer's disease. Curr Opin Neurobiol 1992; 2: 653-659.
7. Kosik KS. The Alzheimer's disease sphinx: a riddle with plaques and tangles. J Cell Biol 1994; 127: 1501-1504.
8. Müller-Hill B, Beyreuther K. Molecular biology of Alzheimer's disease. Annu Rev Biochem 1989; 58: 287-307.
9. Hardy J, Allsop D, Amyloid deposition as the central event in the aetiology of Alzheimer's disease. Trends Pharmacol Sci1991; 12: 383-388.
10. Rumble B et al. Amyloid A4 protein and its precursor in Down's syndrome and Alzheimer's disease. N Engl J Med 1989; 320: 1446-1452.
11. Boller F et al, eds. Heterogeneity of Alzheimer's Disease. Springer Verlag: Berlin/Heidelberg, 1992, 1-189.
12. Ritchie K, Touchon J. Heterogeneity in senile dementia of the Alzheimer type: individual differences, progressive deterioration or clinical sub-types? J Clin Epidemiol 1992; 45: 1391-1398.
13. Van Broeckhoven C et al. Failure of familial Alzheimer's disease to segregate with the A4-amyloid gene in several European families. Nature 1987; 329: 153-155.
14. Rocca WA et al. Frequency and distribution of Alzheimer's disease in Europe: a collaborative study of 1980-1990 prevalence findings. The EURODEM-Prevalence Research Group. Ann Neurol 1991; 30: 381-390.
15. Ritchie K, Kildea D. Is senile dementia 'age-related' or 'ageing-related'? - evidence from meta-analysis of dementia prevalence in the oldest-old. Lancet 1995; 364: 931-934.
16. Lowenberg K, Waggoner R. Familial organic psychosis (Alzheimer's type). Arch Neurol Psycyhiatr 1934; 31: 737-754.
17. Fitch N, Becker R, Heller A. The inheritance of Alzheimer's disease: a new interpretation. Ann Neurol 1988; 23: 14-19.
18. Heston LL, Mastri AR, Anderson E, White J. Dementia of the Alzheimer type. Arch Gen Psychiatry 1981; 38: 1085-1090.
19. Heyman A et al. Alzheimer's disease: genetic aspects and associated clinical disorders. Ann Neurol 1983; 14: 507-515.
20. Chui HC, Teng EL, Henderson VW, Moy AM. Clinical subtypes of dementia of the Alzheimer type. Neurology 1985; 35: 1544-1550.
21. Mayeux R, Stern Y, Spanton S. Heterogeneity in dementia of the Alzheimer type: evidence of subgroups. Neurology 1985; 35: 453-461.
22. Breitner JCS, Silverman JM, Mohs RC, Davis KL. Familial aggregation in Alzheimer's disease: comparison of risk among relatives of early- and late-onset cases, and among male and female relatives in successive generations. Neurology 1988; 38: 207-212.
23. van Duijn CM et al. Familial aggregation of Alzheimer's disease and related disorders: a collaborative re-analysis of case-control studies. Int J Epidemiol 1991; 20 (suppl 1): S13-S20.
24. Folstein MF, Breitner JCS. Language disorders predict familial Alzheimer's disease. Johns Hopkins Med J 1981; 149: 145-147.
25. Masters CL et al. Amyloid plaque core protein in Alzheimer disease and Down Syndrome. Proc Natl Acad Sci USA 1985; 82: 4245-4249.
26. 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: 885-890.
27. Iwatsubo T et al. Visualization of Aβ42(43) and Aβ40 in senile plaques with end-specific Aβ monoclonals: evidence that an initially deposited species is Aβ42(43). Neuron 1994; 13: 45-53.
28. Kang J et al. The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor. Nature 1987; 325: 733-736.
29. Tanzi RE et al. Amyloid β protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. Science 1987; 235: 880-884.
30. Kitaguchi N et al. Novel precursor of Alzheimer's disease amyloid protein shows protease inhibitory activity. Nature 1988; 331: 530-532.
31. Ponte P et al. A new A4 amyloid mRNA contains a domain homologous to serine proteinase inhibitors. Nature 1988; 331: 525-527.
32. Tanzi RE et al. Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease. Nature 1988; 331: 528-530.
33. Konig G et al. Identification and differential expression of a novel alternative splice isoform of the βA4 amyloid precursor protein (APP) mRNA in leukocytes and brain microglial cells. J Biol Chem 1992; 267: 10804-10809.
34. Sandbrink R, Masters CL, Beyreuther K. βA4-amyloid protein precursor mRNA isoforms without exon 15 are ubiquitously expressed in rat tissues including brain, but not in neurons. J Biol Chem 1994; 269: 1510-1517.
35. Weidemann A et al. Identification, biogenesis, and localization of precursors of Alzheimer's disease A4 amyloid protein. Cell 1989; 57: 115-126.
36. Esch FS et al. Cleavage of amyloid β peptide during constitutive processing of its precursor. Science 1990; 248: 1122-1124.
37. Sisodia SS et al. Evidence that beta-amyloid protein in Alzheimer's disease is not derived by normal processing. Science 1990; 248: 492-495.
38. Vigo Pelfrey C et al. Characterization of β-amyloid peptide from human cerebrospinal fluid. J Neurochem 1993; 61: 1965-1968.
39. Dovey HF et al. Cells with a familial Alzheimer's disease mutation produce authentic β-peptide. Neuroreport 1993; 4: 1039-1042.
40. Selkoe DJ. Cell biology of the amyloid β-protein precursor and the mechanism of Alzheimer's disease. Annu Rev Cell Biol 1994; 10: 373-403.
41. Evin G, Beyreuther K, Masters CL. Alzheimer's disease amyloid precursor protein (AβPP): proteolytic processing, secretases and βA4 amyloid production. Amyloid: Int J Exp Clin Invest 1994; 1: 263-280.
42. Neve RL, Finch EA, Dawes LR. Expression of the Alzheimer amyloid precursor gene transcripts in the human brain. Neuron 1988; 1: 669-677.
43. Iwatsubo T et al. Amyloid β protein (Aβ) deposition: Aβ42(43) precedes Aβ40 in Down syndrome. Ann Neurol 1995; 37: 294-299.
44. Gowing E et al. Chemical characterization of Aβ 17-42 peptide, a component of diffuse amyloid deposits of Alzheimer disease. J Biol Chem 1994; 269: 10987-10990.
45. St George-Hyslop P et al. The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Science 1987; 235: 885-890.
46. Van Broeckhoven C et al. Amyloid β protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch). Science 1990; 248: 1120-1122.
47. Levy E et al. Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. Science 1990; 248: 1124-1126.
48. Goate A et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 1991; 349: 704-706.
49. 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.
50. Chartier-Harlin MC et al. Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene. Nature 1991; 353: 844-846.
51. Hendriks L et al. Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β-amyloid precursor protein gene. Nat Genet 1992; 1: 218-221.
52. Mullan M et al. A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of β-amyloid. Nat Genet 1992; 1: 345-347.
53. Cai XD, Golde TE, Younkin SG. Release of excess amyloid β protein from a mutant amyloid β protein precursor. Science 1993; 259: 514-516.
54. Citron M et al. Mutation of the β-amyloid precursor protein in familial Alzheimer's disease increases β-protein production. Nature 1992; 360: 672-674.
55. Suzuki N et al. An increased percentage of long amyloid β protein secreted by familial amyloid β protein precursor (βAPP717) mutants. Science 1994; 264: 1336-1340.
56. Wisniewski T, Ghiso J, Frangione B. Peptides homologous to the amyloid protein of Alzheimer's disease containing a glutamine for glutamic acid substitution have accelerated amyloid fibril formation. Biochem Biophys Res Commun 1991; 179: 1247-1254.
57. Hartmann T et al. Alternative splicing of APP influences polarised sorting and βA4 production. Soc Neurosci Abstracts 1995; 21: 504.
58. Pangalos MN, Efthimiopoulos S, Shioi J, Robakis NK. The chondroitin sulfate attachment site of appican is formed by splicing out exon 15 of the amyloid precursor gene. J Biol Chem 1995; 270: 10388-10391.
59. Sandbrink R, Masters CL, Beyreuther K. APP gene family: alternative splicing generates functionally related isoforms. Ann NY Acad Sci 1995; 777: 281-287.
60. Nitsch RM, Slack BE, Wurtman RJ, Growdon JH. Release of Alzheimer amyloid precursor derivatives stimulated by activation of muscarinic acetylcholine receptors. Science 1992; 258: 304-307.
61. Sprecher CA et al. Molecular cloning of the cDNA for a human amyloid precursor protein homolog: evidence for a multigene family. Biochemistry 1993; 32: 4481-4486.
62. Wasco W et al. Isolation and characterization of APLP2 encoding a homologue of the Alzheimer's associated amyloid β protein precursor. Nat Genet 1993; 5: 95-100.
63. Sandbrink R, Masters CL, Beyreuther K. Similar alternative splicing of a non-homologous domain in βA4-amyloid protein precursor-like proteins. J Biol Chem 1994; 269: 14227-14234.
64. Thinakaran G, Sisodia SS. Amyloid precursor-like protein 2 (APLP2) is modified by the addition of chondroitin sulfate glycosaminoglycan at a single site. J Biol Chem 1994; 269: 22099-22104.
65. Tanzi RE et al. The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid β-protein gene. Nature 1987; 329: 156-157.
66. Schellenberg GD et al. Absence of linkage of chromosome 21q21 markers to familial Alzheimer's disease. Science 1988; 241: 1507-1510.
67. St George-Hyslop PH et al. Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder. Nature 1990; 347: 194-197.
68. Pericak-Vance MA et al. Linkage studies in familial Alzheimer's disease - evidence for chromosome 19 linkage. Am J Hum Genet 1991; 48: 1034-1050.
69. St George-Hyslop PH et al. Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14. Nat Genet 1992; 2: 330-334.
70. Van Broeckhoven C et al. Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3. Nat Genet 1992; 2: 335-339.
71. Mullan M et al. A locus for familial early-onset Alzheimer's disease on the long arm of chromosome 14, proximal to the α1-antichymotrypsin gene. Nat Genet 1992; 2: 340-342.
72. Schellenberg GD et al. Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science 1992; 258: 668-671.
73. Lannfelt L et al. No linkage to chromosome 14 in Swedish Alzheimer's disease families. Nat Genet 1993; 4: 218-219.
74. Sherrington R et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 1995; 375: 754-760.
75. Slunt HH, Thinakaran G, Lee MK, Sisodia SS. Nucleotide sequence of the chromosome 14-encoded S182 cDNA and revised secondary structure prediction. Amyloid: Int J Exp Clin Invest 1995; 2: 188-190.
76. Rogaev EI et al. Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature 1995; 376: 775-778.
77. Wasco W et al. Familial Alzheimer's chromosome 14 mutations. Nat Med 1995; 1: 848.
78. Alzheimer's Disease Collaborative Group. The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Nat Genet 1995; 11: 219-222.
79. Van Broeckhoven C. Presenilins and Alzheimer disease. Nat Genet 1995; 11: 230-232.
80. Levy-Lahad E et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 1995; 269: 973-977.
81. Levitan D, Greenwald I. Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene. Nature 1995; 377: 351-354.
82. Scheuner D et al. Fibroblasts from carriers of familial AD linked to chromosome 14 show increased Aβ production. Soc Neurosci Abstracts 1995; 21: 1500.
83. Corder EH 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.
84. Saunders AM et al. Association of apolipoprotein E allele ∈4 with late-onset familial and sporadic Alzheimer's disease. Neurology 1993; 43: 1467-1472.
85. Strittmatter WJ et al. Apolipoprotein E: high-avidity binding to β-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc Natl Acad Sci USA 1993; 90: 1977-1981.
86. Couderc R et al. Apolipoprotein E phenotypes in ischemic cerebrovascular disease. A case control study. Stroke 1993; 24: 661-664.
87. Mayeux R et al. The apolipoprotein ∈4 allele in patients with Alzheimer's disease. Ann Neurol 1993; 34: 752-754.
88. Czech C et al. Apolipoprotein-E ∈4 allele and Alzheimer's disease. Lancet 1993; 342: 1309-1310.
89. Chartier-Harlin MC et al. Apolipoprotein E, E4 allele as a major risk factor for sporadic early and late-onset form of Alzheimer's disease. Hum Mol Genet 1994; 3: 569-574.
90. van Duijn CM et al. Apolipoprotein E4 allele in a population-based study of early-onset Alzheimer's disease. Nat Genet 1994; 7: 74-78.
91. van Gool WA, Evenhuis HM, van Duijn CM. A case-control study of apolipoprotein E genotypes in Alzheimer's disease associated with Down's syndrome. Ann Neurol 1995; 38: 225-230.
92. Corder E et al. Apolipoprotein E-∈4 gene dose. Lancet 1995; 346: 967-968.
93. Sobel E et al. Lack of association of the apolipoprotein E allele ∈4 with late-onset Alzheimer's disease in Finnish centenarians. Neurology 1995; 45: 903-907.
94. Corder EH et al. Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease. Nat Genet 1994; 7: 180-184.
95. van Duijn CM et al. The apolipoprotein E ∈2 allele is associated with an increased risk of early-onset Alzheimer's disease and a reduced survival. Ann Neurol 1995; 37: 605-610.
96. Maestre G et al. Apolipoprotein E and Alzheimer's disease: ethnic variation in genotypic risks. Ann Neurol 1995; 37: 254-259.
97. Roses A. Apolipoprotein E genotyping in the differential diagnosis, not prediction of Alzheimer's disease. Ann Neurol 1995; 38: 6-14.
98. Mayeux R et al. Synergistic effects of traumatic head injury and apolipoprotein-epsilon 4 in patients with Alzheimer's disease. Neurology 1995; 45: 555-557.
99. Greenberg SM et al. Apolipoprotein E ∈4 and cerebral hemorrhage associated with amyloid angiopathy. Ann Neurol 1995; 38: 254-259.
100. Frisoni GB et al. Apolipoprotein E ∈4 allele in Alzheimer's disease and vascular dementia. Dementia 1994; 5: 240-242.
101. St Clair D et al. Apolipoprotehi E ∈4 allele frequency in patients with Lewy body dementia, Alzheimer's disease and age-matched controls. Neurosci Lett 1994; 176: 45-46.
102. Galasko D et al. The apolipoprotein E allele ∈4 is overrepresented in patients with Lewy body variant of Alzheimer's disease. Neurology 1994; 44: 1950-1951.
103. Pickering-Brown SM et al. Apolipoprotoin E4 and Alzheimer's disease pathology in Lewy body disease and in other β-amyloid-forming diseases. Lancet 1994; 343: 1155.
104. Harrington CR et al. Influence of apolipoprotein E genotype on senile dementia of the Alzheimer and Lewy body types. Significance for etiological theories of Alzheimer's disease. Am J Pathol 1994; 145: 1472-1484.
105. Schneider JA et al. Apolipoprotein E genotype in diverse neurodegenerative disorders. Ann Neurol 1995; 38: 131-135.
106. Koller WC et al. Apolipoprotoin E genotypes in Parkinson's disease with and without dementia. Ann Neurol 1995; 37: 242-245.
107. Marder K, Maestre G, Cote L. The apolipoprotein ∈4 allele in Parkinson's disease with and without dementia. Neurology 1994; 44: 1330-1331.
108. Strittmatter WJ et al. Binding of human apolipoprotein E to synthetic amyloid β peptide: isoform-specific effects and implications for late-onset Alzheimer disease. Proc Natl Acad Sci USA 1993; 90: 8098-8102.
109. Rebeck GW, Reiter JS, Strickland DK, Hyman BT. Apolipoprotein in sporadic Alzheimer's disease: allelic variation and receptor interactions. Neuron 1993; 11: 575-580.
110. Schmechel DE at al. Increased amyloid β-peptide deposition in cerebral cortex as a consequence of apolipoprotein E genotype in late-onset Alzheimer disease. Proc Natl Acad Sci USA 1993; 90: 9649-9653.
111. Strittmatter WJ et al. Hypothesis: microtubule instability and paired helical filament formation in the Alzheimer disease brain are related to apolipoprotoin E genotype. Exp Neurol 1994; 125: 163-171.
112. Hardy J et al. Apolipoprotein-E genotype and Alzheimers disease. Lancet 1993; 3422: 737-738.
113. Haan J et al. The apolipoprotein E ∈4 allele does not influence the clinical expression of the amyloid precursor protein gene codon 693 or 692 mutations. Ann Neurol 1994; 36: 434-437.
114. Sorbi S at al. Epistatic effect of APP717 mutation and apolipoprotoin E genotype in familial Alzheimer's disease. Ann Neurol 1995; 38: 124-127.
115. Van Broeckhoven C 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.
116. Levy-Lahad E et al. Apolipoprotein E genotypes and age of onset in early-onset familial Alzheimer's disease. Ann Neurol 1995; 38: 678-680.
117. Kamboh MI, Sanghera DK, Ferrell RE, DeKosky ST. APOE*4-associated Alzheimer's disease risk is modified by α-antichymotrypsin polymorphism. Nat Genet 1995; 10: 486-488.
118. Okuizumi K et al. Genetic association of the very low density lipoprotein (VLDL) receptor gene with sporadic Alzheimer's disease. Nat Genet 1995; 11: 207-209.
119. Payami H et al. HLA-A2, or a closely linked gene, confers susceptibility to early-onset sporadic Alzheimer's disease in men. Neurology 1991; 41: 1544-1548.
120. Small GW, Matsuyama SS. HLA-A2 as a possible marker for early-onset Alzheimer disease in men. Neurobiol Aging 1986; 7: 211-214.
121. Tsuda T et al. Are the associations between Alzheimer's disease and polymorphisms in the apolipoprotein E and the apolipoprotein CII genes due to linkage disequilibrium? Ann Neurol 1994; 36: 97-100.
122. Potter H. Review and hypothesis: Alzheimer disease and Down syndrome - chromosome 21 nondisjunction may underlie both disorders. Am J Hum Genet 1991; 48: 1192-1200.
123. Parker WD, Filley CM, Parks JK. Cytochrome oxidase deficiency in Alzheimer's disease. Neurology 1990; 40: 1302-1303.
124. Kish SJ et al. Brain cytochrome oxidase in Alzheimer's disease. J Neurochem 1992; 59: 776-779.
125. Parker WD, Parks JK, Filley CM, Kleinschmidt-DeMasters BK. Electron transport chain defects in Alzheimer's disease brain. Neurology 1994; 44: 1090-1096.
126. Dyrks T et al. Amyloidogenicity of βA4 and βA4-bearing amyloid protein precursor fragments by metal-catalyzed oxidation. J Biol Chem 1992; 267: 18210-18217.
127. Mayeux R, Schupf N. Apolipoprotein E and Alzheimer's disease: the implications of progress in molecular medicine. Am J Pub Health 1995; 85: 1280-1284.
128. American College of Medical Genetics/American Society of Human Genetics: Working Group of ApoE and AD. Meeting Report. JAMA 1996; (in press).
129. NIA and Alzheimer's Association. Consensus viewpoints of the NIA/AA conference on apolipoprotein E genotyping in AD. Lancet 1996: (in press).