Alzheimer's disease: Identification of genes and genetic risk factors

Progress in Brain Research

Volumn 117, Issue , 1998, Pages 315-325

  Van Broeckhoven, C ^a  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID BETA PROTEIN; AMYLOID PRECURSOR PROTEIN; APOLIPOPROTEIN E; PRESENILIN 1; PRESENILIN 2;

ALZHEIMER DISEASE; CONFERENCE PAPER; DEGENERATIVE DISEASE; DEMENTIA; GENE MUTATION; GENETIC PREDISPOSITION; HUMAN; NEUROLOGIC DISEASE; NEUROPATHOLOGY; PRIORITY JOURNAL; RISK FACTOR;

EID: 0031740382     PISSN: 00796123     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Conference Paper

References (61)

1. R. Baumeister U. Leimer I. Zweckbronner C. Jakubek J. Grunberg C. Haass Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing Genes and Function 1 1997 149 159
2. D.R. Borchelt T. Ratovitski J. van Lare M.K. Lee V. Gonzales N.A. Jenkins N.G. Copeland D.L. Price S.S. Sisodia Accelerated amyloid deposition in the brains of transgenic mice coexpressing mutant presenilin 1 and amyloid precursor proteins Neuron 19 1997 939 945
3. M.J. Bullido M.J. Artiga M. Recuero I. Sastre M.A. Garcia J. Aldudo C. Lendon S.W. Han J.C. Morris A. Frank J. Vázquez A. Goate F. Valdivieso A polymorphism in the regulatory region of APOE associated with risk for Alzheimer's dementia Nature Genet. 18 1998 69 71
4. M. Chartier-Harlin F. Crawford H. Houlden A. Warren D. Hughes L. Fidani A. Goate M. Rossor P. Roques J. Hardy M. Mullan Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene Nature 353 1991 844 846
5. E.H. Corder A.M. Saunders W.J. Strittmatter D.E. Schmechel P.C. Gaskell G.W. Small A.D. Roses J.L. Haines M.A. Pericak-Vance Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families Science 261 1993 921 923
6. E.H. Corder A.M. Saunders N.J. Risch W.J. Strittmatter D.E. Schmechel P.C. Gaskell J.B. Rimmler P.A. Locke P.M. Conneally K.E. Schmader G.W. Small A.D. Roses J.L. Haines M.A. Pericak-Vance Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease Nature Genet. 7 1994 180 184
7. M. Cruts C.M. van Duijn H. Backhovens M. Van den Broeck A. Wehnert S. Serneels R. Sherrington M. Hutton J. St. Hardy P.M. George-Hyslop A. Hofman C. Van Broeckhoven Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease Hum. Molec. Genet. 7 1998 43 51
8. M. Cruts C. Van Broeckhoven Presenilin mutations in Alzheimer's disease Human Mutation 11 1998 183 190
9. M. Curran D. Middleton J. Edwardson R. Perry I. McKeith C. Morris D. Neill HLA-DR antigens associated with major genetic risk for late-onset Alzheimer's disease Neuroreport 8 1997 1467 1469
10. B. De Strooper P. Saftig K. Craessaerts H. Vanderstichele G. Guhde W. Annaert K. von Figura F. Van Leuven Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein Nature 391 1998 387 390
11. A. Doan G. Thinakaran D.R. Borchelt H.H. Slunt T. Ratovitsky M. Podlisny D.J. Selkoe M. Seeger S.E. Gandy D.L. Price S.S. Sisodia Protein topology of presenilin 1 Neuron 17 1996 1023 1030
12. C.B. Eckman N.D. Mehta R. Crook J. Perez-Tur G. Prihar E. Pfeiffer N. Graff-Radford P. Hinder D. Yager B. Zenk L.M. Refolo C.M. Prada S.G. Younkin M. Hutton J. Hardy A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43) Hum. Molec. Genet. 6 1997 2087 2089
13. D. Games D. Adams R. Alessandrini R. Barbour P. Berthelette C. Blackwell T. Carr J. Clemens T. Donalson F. Gillespi T. Guido S. Hagoplan K. Johnson-Wood K. Khan M. Lee P. Leibowitz I. Lieberburg S. Little E. Masliah L. McConlogue M. Montoya-Zavala L. Mucke L. Paganini E. Penniman M. Power D. Schenk P. Seubert B. Snyder F. Soriano H. Tan J. Vitale S. Wadsworth B. Wolozin J. Zhao Alzheimer-type neuropathology in transgenic mice overexpressing V717F β-amyloid precursor protein Nature 373 1995 523 527
14. A. Goate M. Chartier-Harlin M. Mullan J. Brown F. Crawford L. Fidani L. Giuffra A. Haynes N. Irving L. James R. Mant P. Newton K. Rooke P. Roques C. Talbot M. Pericak-Vance A. Roses R. Williamson M. Rossor M. Owen J. Hardy Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease Nature 349 1991 704 706
15. J. Haan J.A. Hardy R.A.C. Roos Hereditary cerebral hemorrhage with amyloidosis-Dutch type: Its importance for Alzheimer research TINS 14 1991 231 234
16. J. Hardy Amyloid, the presenilins and Alzheimer's disease TINS 20 1997 154 159
17. J.A. Hardy G.A. Higgins Alzheimer's disease: The amyloid cascade hypothesis Science 256 1992 184 185
18. L. Hendriks C.M. van Duijn P. Cras M. Cruts W. van Hul F. van Harskamp A. Warren M.G. McInnis S.E. Antonarakis J. Martin A. Hofman C. Van Broeckhoven Presenile dementia and cerebral haemorrhage linked to a mutation at condon 692 of the β-amyloid precursor protein gene Nature Genet. 1 1992 218 221
19. L. Hendriks G. Thinakaran C.L. Harris C. de Jonghe J. Martin S.S. Sisodia C. Van Broeckhoven Processing of presenilin 1 in brains of patients with Alzheimer's disease and controls Neuroreport 8 1997 1717 1721
20. L. Hendriks C. Van Broeckhoven The βA4 amyloid precursor protein gene and Alzheimer's disease Eur. J. Biocchemistry 237 1996 6 15
21. L. Holcomb M.N. Gordon E. McGowan X. Yu S. Benkovic P. Jantzen K. Wright I. Saad R. Mueller D. Morgan S. Sanders C. Zehr K. O' Campo J. Hardy C. Prada C. Eckman S. Younkin K. Hsiao K. Duff Accelerated Alzheimer-type phenotype in transgenic mice carrying both mutant amyloid precursor protein and presenilin 1 transgenes Nature Medicine 4 1998 97 100
22. K. Hsiao P. Chapman S. Nilsen C. Eckman Y. Harigaya S. Younkin F. Yang G. Cole Correlative memory deficits, Aβ elevation and amyloid plaques in transgenic mice Science 274 1996 99 102
23. *4-associated Alzheimer's disease risk is modified by α-antichymotrypsin polymorphism Nature Genet. 10 1995 486 488
24. J. Kang H. Lemaire A. Unterbeck J.M. Salbaum C.L. Masters K. Grzeschik G. Multhaup K. Beyreuther B. Müller-Hill The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor Nature 325 1987 733 736
25. T. Kim W.H. Pettingell Y. Jung D.M. Kovacs R.E. Tanzi Alternative cleavage of Alzheimer-associated presenilins during apoptosis by a Caspase-3 family protease Science 277 1998 373 376
26. K.S. Kosik Alzheimer's disease: A cell biological perspective Science 256 1992 780 783
27. J. Lambert J. Pérez-Tur M. Dupire D. Galasko D. Mann P. Amouyel J. Hardy A. Delacourte M. Chartier-Harlin Distortion of allelic expression of apolipoprotein E in Alzheimer's disease Hum. Molec. Genet. 6 1997 2151 2154
28. J. Lambert F. Pasquier D. Cottel B. Frigard P. Amouyel M. Chartier-Harlin A new polymorphism in the APOE promotor associated with risk of developing Alzheimer's disease Hum. Molec. Genet. 7 1998 533 540
29. D.J. Lehmann C. Johnston A.D. Smith Synergy between the genes for butrylcholinesterase K variant and apolipoprotein E4 in late-onset confirmed Alzheimer's disease Hum. Molec. Genet. 6 1997 1933 1936
30. C.L. Lendon C.J. Talbot N.J. Craddock S.W. Han M. Wragg J.C. Morris A.M. Goate Genetic association studies between dementia of the Alzheimer's type and three receptors for apolipoprotein E in a Caucasian population Neurosci Lett 222 1997 187 190
31. D. Levitan T.G. Doyle D. Brousseau M.K. Lee G. Thinakaran H.H. Slunt S.S. Sisodia I. Greenwald Assessment of normal and mutant human presenilin function i Caenorhabditis elegans. Proc. Natl. Acad Sci., USA 93 1996 14940 14944
32. E. Levy M.D. Carman I.J. Fernandez-Madrid M.D. Power I. Lieberburg S.G. van Duinen G.T. Bots A.M.W. Luyendijk B. Frangione Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type Science 248 1990 1124 1126
33. E. Levy-Lahad W. Wasco P. Poorkaj D.M. Romano J. Oshima W.H. Pettingell C. Yu P.D. Jondro S.D. Schmidt K. Wang A.C. Crowley Y. Fu S.Y. Guenette D. Galas E. Nemens E.M. Wijsman T.D. Bird G.D. Schel-lenberg R.E. Tanzi Candidate gene for the chromosome 1 familial Alzheimer's disease locus Science 269 1995 973 977
34. T. Li C. Holmes P.C. Sham H. Vallada J. Birkett G. Kirov K.P. Lesch J. Powell S. Lovestone D. Collier Allelic functional variation of serotonin transporter expression is a susceptibility factor for late onset Alzheimer's disease Neuroreport 8 1997 683 686
35. X. Li I. Greenwald Membrane topology of the C. elegans SEL-12 presenilin Neuron 17 1996 1015 1021
36. R.W. Mahley Apolipoprotein E: Cholesterol transport protein with expanding role in cell biology Science 240 1988 622 630
37. S.E. Montoya C.E. Aston S.T. DeKosky M.I. Kamboh J.S. Lazo R.E. Ferrell Bleomycin hydrolase is associated with risk of sporadic Alzheimer's disease Nature Genet. 18 1998 211 212
38. M. Mullan F. Crawford K. Axelman H. Houlden L. Lilius B. Winblad L. Lannfelt A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of β-amyloid Nature Genet. 1 1992 345 347
39. J. Murrell M. Farlow B. Ghetti M.D. Benson A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease Science 254 1991 97 99
40. R.L. Neve N.K. Robakis Alzheimer's disease: A re-examination of the amyloid hypothesis TINS 21 1998 15 19
41. K. Okuizumi O. Onodera Y. Namba K. Ikeda T. Yamamoto K. Seki A. Ueki S. Nanko H. Tanaka H. Takahashi K. Oyanagi H. Mizusawa I. Kanazawa S. Tsuji Genetic association of the very low density lipoprotein (VLDL) receptor gene with sporadic Alzheimer's disease Nature Genet. 11 1995 207 209
42. A. Ott M.M.B. Breteler F. van Harskamp J.J. Claus T.J. Van Der Cammen D.E. Grobbee A. Hofman Prevalance of Alzheimer's disease and vascular dementia: Association with education. The Rotterdam study British Medical Journal 310 1995 970 973
43. J. Perez-Tur S. Froelich G. Prihar R. Crook M. Baker K. Duff M. Wragg F. Busfield C. Lendon R.F. Clark P. Roques R.A. Fuldner J. Johnston R. Cowburn C. Forsell K. Axelman L. Lilius H. Houlden E. Karran G.W. Roberts M. Rossor M.D. Adams J. Hardy A. Goate L. Lannfelt M. Hutton A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene Neuroreport 7 1996 297 301
44. M.A. Pericak-Vance M.P. Bass L.H. Yamaoka P.C. Gaskell W.K. Scott H.A. Terwedow M.M. Menold P.M. Conneally G.W. Small J.M. Vance A.M. Saunders A.D. Roses J.L. Haines Complete genomic screen in late-onset familial Alzheimer disease JAMA 278 1998 1237 1241
45. M.A. Pericak-Vance J.L. Haines Genetic susceptibility to Alzheimer disease TIG 11 1995 504 508
46. T. Saitoh Y. Xia X. Chen The CYP2D6B mutant allele is overrepresented in the Lewy body variant of Alzheimer's disease Ann. Neurol. 37 1995 110 112
47. A.M. Saunders W.J. Strittmatter D. St. Schmechel P.H. George-Hyslop M.A. Pericak-Vance S.H. Joo B.L. Rosi J.F. Gusella D.R. Crapper-Mclachlan M.J. Alberts C. Hulette B. Crain D. Goldgaber A.D. Roses Association of apolipoprotein E allele E4 with lateonset familial and sporadic Alzheimer's disease Neurology 43 1993 1467 1472
48. D.J. Selkoe Alzheimer's disease: A central role for amyloid J. Neuropath. Exp. Neurol. 53 1994 438 447
49. R. Sherrington E.I. Rogaev Y. Liang E.A. Rogaeva G. Levasque M. Ikeda H. Chi C. Lin G. Li K. Holman T. Tsuda L. Mar J.F. Foncin A.C. Bruni M.P. Montesi S. Sorbi I. Rainero L. Pinessi L. Nee I. Chumakov D. Pollen A. Brookes P. Sansosu R.J. Polinsky W. Wasco H.A.R. Da Silva J.L. Haines M.A. Pericak-Vance R.E. Tanzi A.D. Roses P.E. Fraser J.M. Rommens P. St. George-Hyslop Cloning of a gene bearing mis-sense mutations in early-onset familial Alzheimer's disease Nature 375 1995 754 760
50. A.J. Slooter C.M. Van Duijn Genetic epidemiology of Alzheimer disease Epidemiol Rev 19 1997 107 119
51. R.E. Tanzi D.M. Kovacs T. Kim R.D. Moir S.Y. Guenette W. Wasco The gene defects responsible for familial Alzheimer's disease Neurobiology of Disease 3 1996 159 168
52. G. Thinakaran D. Borschelt M.K. Lee H.H. Slunt L. Spitzer G. Kim R. Ratovitsky F. Davenport C. Nordstedt M. Seeger J. Hardy A.I. Levey S.E. Gandy N.A. Jenkins N.G. Copeland D.L. Price S.S. Sisodia Endoproteolysis of presenilin 1 and accumulation of processed derevatives in vivo Neuron 17 1996 181 190
53. B. Tycko L. Feng L. Nguyen A. Francis A. Hays W.Y. Chung M.X. Tang Y. Stern A. Sahota H. Hendrie R. Mayeux Polymorphisms in the human apolipoprotein-J/clusterin gene: ethnic variation and distribution in Alzheimer's disease Human Genetics 98 1996 430 436
54. C. Tysoe J. Whittaker J. Xuerub N.J. Cairns M. Cruts C. van Broeckhoven G. Wilcock D.C. Rubinsztein A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease Am. J. Hum. Genet. 62 1998 70 76
55. C. Van Broeckhoven Molecular Genetics of Alzheimer disease: Identification of genes and gene mutations Eur. Neurology 35 1995 8 19
56. C. Van Broeckhoven Presenilins and Alzheimer disease Nature Genet. 11 1995 230 232
57. C.M. Van Duijn P. de Knijff M. Cruts A. Wehnert L.M. Havekes A. Hofman C. Van Broeckhoven Apolipoprotein E4 allele in a population-based study of early-onset Alzheimer's disease Nature Genet. 7 1994 74 78
58. C.M. Van Duijn P. de Knijff A. Wehnert J. de Voecht J.B. Bronzova L.M. Havekes A. Hofman C. Van Broeckhoven The apolipoprotein E ɛ2 allele is associated with an increased risk of early-onset Alzheimer's disease and a reduced survival Ann. Neural. 37 1995 605 610
59. C.M. Van Duijn Epidemiology of the dementias: recent developments and new approaches J. of Neurol Neurosur and Psychiat 60 1996 478 488
60. M. Wragg M. Hutton C. Talbot F. Busfield S.W. Han C. Lendon R.F. Clark J.C. Morris D. Edwards A. Goate E. Pfeiffer R. Crook G. Prihar H. Philips M. Baker J. Hardy M. Rossor H. Houlden E. Karran G. Roberts N. Craddock Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease The Lancet 347 1996 509 512
61. Y. Xia H.A. Rohan de Silva B.L. Rosi L.H. Yamaoka J.B. Rimmler M.A. Pericak-Vance A.D. Roses X. Chen E. Masliah R. DeTeresa A. Iwai M. Sundsmo R.G. Thomas R. Hofstetter E. Gregory L.A. Hansen R. Katzman L.J. Thai T. Saitoh Genetic studies in Alzheimer's disease with an NACP/α-synuclein polymorphism Ann. Neurol. 40 1996 207 215