Clinical genetics of Alzheimer's disease

BioMed Research International

Volumn 2014, Issue , 2014, Pages

  Zou, Zhangyu ^a   Liu, Changyun ^a   Che, Chunhui ^a   Huang, Huapin ^a  

^a FUJIAN MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID PRECURSOR PROTEIN; BRAIN DERIVED NEUROTROPHIC FACTOR; CATHEPSIN B; HLA DRB1 ANTIGEN; HLA DRB5 ANTIGEN; MEMBRANE METALLOENDOPEPTIDASE; NERVE GROWTH FACTOR; PRESENILIN 1; PRESENILIN 2; PSEN1 PROTEIN, HUMAN; PSEN2 PROTEIN, HUMAN;

ALZHEIMER DISEASE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 14; CLINICAL FEATURE; CLINICAL GENETICS; ENVIRONMENTAL EXPOSURE; GENE MUTATION; GENE THERAPY; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC EPIDEMIOLOGY; GENETIC RISK; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INHERITANCE; LIPOPROTEIN METABOLISM; MISSENSE MUTATION; NEUROFIBRILLARY TANGLE; ONSET AGE; PATHOGENESIS; REVIEW; SENILE PLAQUE; AGED; DEMENTIA; GENETIC PREDISPOSITION; GENETICS; MUTATION; PATHOLOGY;

AGE OF ONSET; AGED; ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN PRECURSOR; DEMENTIA; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION; PRESENILIN-1; PRESENILIN-2;

EID: 84901767974     PISSN: 23146133     EISSN: 23146141     Source Type: Journal    
DOI: 10.1155/2014/291862     Document Type: Review

References (132)

1. Tanzi R. E., A brief history of Alzheimer's disease gene discovery. Journal of Alzheimer's Disease 2013 33 supplement 1 S5 13
2. Sjogren T., Sjogren H., Lindgren A. G., Morbus Alzheimer and morbus Pick, a genetic, clinical and patho-anatomical study. Acta Psychiatrica et Neurologica Scandinavica. Supplementum 1952 82 1 152 2-s2.0-78651037744
3. Nee L. E., Polinsky R. J., Eldridge R., A family with histologically confirmed Alzheimer's disease. Archives of Neurology 1983 40 4 203 208 2-s2.0-0020692622 (Pubitemid 13161428)
4. Goudsmit J., White B. J., Weitkamp L. R., Familial Alzheimer's disease in two kindreds of the same geographic and ethnic origin. A clinical and genetic study. Journal of the Neurological Sciences 1981 49 1 79 89 2-s2.0-0019378145 10.1016/0022-510X(81)90190-8 (Pubitemid 11217488)
5. Reitz C., Brayne C., Mayeux R., Epidemiology of Alzheimer disease. Nature Reviews Neurology 2011 7 3 137 152 2-s2.0-79952574501 10.1038/nrneurol.2011.2
6. Gatz M., Reynolds C. A., Fratiglioni L., Johansson B., Mortimer J. A., Berg S., Fiske A., Pedersen N. L., Role of genes and environments for explaining Alzheimer disease. Archives of General Psychiatry 2006 63 2 168 174 2-s2.0-32244435907 10.1001/archpsyc.63.2.168 (Pubitemid 43213878)
7. Goate A., Chartier-Harlin M.-C., Mullan M., Brown J., Crawford F., Fidani L., Giuffra L., Haynes A., Irving N., James L., Mant R., Newton P., Rooke K., Roques P., Talbot C., Pericak-Vance M., Roses A., Williamson R., Hardy J., Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 1991 349 6311 704 706 2-s2.0-0026088977 10.1038/349704a0 (Pubitemid 21912142)
8. Sherrington R., Rogaev E. I., Liang Y., Rogaeva E. A., Levesque G., Ikeda M., Chi H., Lin C., Holman K., Tsuda T., Mar L., Foncin J.-F., Bruni A. C., Montesi M. P., Sorbi S., Rainero I., Pinessi L., Nee L., Chumakov I., St George-Hyslop P. H., Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 1995 375 6534 754 760 2-s2.0-0029004341
9. Levy-Lahad E., Wasco W., Poorkaj P., Romano D. M., Oshima J., Pettingell W. H., Yu C.-E., Jondro P. D., Schmidt S. D., Wang K., Crowley A. C., Fu Y.-H., Guenette S. Y., Galas D., Nemens E., Wijsman E. M., Bird T. D., Schellenberg G. D., Tanzi R. E., Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 1995 269 5226 973 977 2-s2.0-0029087026
10. Cruts M., Theuns J., Van Broeckhoven C., Locus-specific mutation databases for neurodegenerative brain diseases. Human Mutation 2012 33 9 1340 1344
11. Mullan M., Crawford F., Axelman K., Houlden H., Lilius L., Winblad B., Lannfelt L., A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of β -amyloid. Nature Genetics 1992 1 5 345 347 2-s2.0-0026907151
12. Pasalar P., Najmabadi H., Noorian A. R., Moghimi B., Jannati A., Soltanzadeh A., Krefft T., Crook R., Hardy J., An Iranian family with Alzheimer's disease caused by a novel APP mutation (THr714ALa). Neurology 2002 58 10 1574 1575 2-s2.0-0037188380 (Pubitemid 34552978)
13. Kumar-Singh S., De Jonghe C., Cruts M., Kleinert R., Wang R., Mercken M., De Strooper B., Vanderstichele H., Löfgren A., Vanderhoeven I., Backhovens H., Vanmechelen E., Kroisel P. M., Van Broeckhoven C., Nonfibrillar diffuse amyloid deposition due to a γ 42-secretase site mutation points to an essential role for N-truncated A β 42 in Alzheimer's disease. Human Molecular Genetics 2000 9 18 2589 2598 2-s2.0-0034327364
14. Ancolio K., Dumanchin C., Barelli H., Warter J. M., Brice A., Campion D., Frebourg T., Checler F., Unusual phenotypic alteration of β amyloid precursor protein (β APP) maturation by a new Val-715 → Met β APP-770 mutation responsible for probable early-onset Alzheimer's disease. Proceedings of the National Academy of Sciences of the United States of America 1999 96 7 4119 4124 2-s2.0-0033616590 10.1073/pnas.96.7.4119 (Pubitemid 29169046)
15. Cruts M., Dermaut B., Rademakers R., Van Den Broeck M., Stögbauer F., Van Broeckhoven C., Novel APP mutation V715A associated with presenile Alzheimer's disease in a German family. Journal of Neurology 2003 250 11 1374 1375 2-s2.0-0344153476 10.1007/s00415-003-0182-5 (Pubitemid 37456901)
16. Eckman C. B., Mehta N. D., Crook R., Perez-tur J., Prihar G., Pfeiffer E., Graff-Radford N., Hinder P., Yager D., Zenk B., Refolo L. M., Prada C. M., Younkin S. G., Hutton M., Hardy J., A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43). Human Molecular Genetics 1997 6 12 2087 2089 (Pubitemid 27477950)
17. Hendriks L., Van Duijn C. M., Cras P., Cruts M., Van Hul W., Van Harskamp F., Warren A., McInnis M. G., Antonarakis S. E., Martin J., Hofman A., Van Broeckhoven C., Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β -amyloid precursor protein gene. Nature Genetics 1992 1 3 218 221 2-s2.0-0026879650
18. Tagliavini F., Rossi G., Padovani A., Magoni M., Andora G., Sgarzi M., Bizzi A., Savoiardo M., Carella F., Morbin M., Giaccone G., Bugiani O., A new β PP mutation related to hereditary cerebral haemorrhage. Alzheimer's Reports 1999 2 supplement 1 S28
19. Levy E., Carman M. D., Fernandez-Madrid I. J., Power M. D., Lieberburg I., Van Duinen S. G., Bots Th. G. A. M., Luyendijk W., Frangione B., Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. Science 1990 248 4959 1124 1126 2-s2.0-0025296269
20. Kamino K., Orr H. T., Payami H., Wijsman E. M., Alonso M. E., Pulst S. M., Anderson L., O'dahl S., Nemens E., White J. A., Sadovnick A. D., Ball M. J., Kaye J., Warren A., McInnis M., Antonarakis S. E., Korenberg J. R., Sharma V., Schellenberg G. D., Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region. American Journal of Human Genetics 1992 51 5 998 1014 2-s2.0-0026733343
21. Grabowski T. J., Cho H. S., Vonsattel J. P. G., William Rebeck G., Greenberg S. M., Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy. Annals of Neurology 2001 49 6 697 705 2-s2.0-0034982951 10.1002/ana.1009 (Pubitemid 32530235)
22. Naruse S., Igarashi S., Aoki K., Kaneko K., Iihara K., Miyatake T., Kobayashi H., Inuzuka T., Shimizu T., Kojima T., Tsuji S., Mis-sense mutation Val → Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease. The Lancet 1991 337 8747 978 979 2-s2.0-0025754007
23. Hardy J., Mullan M., Chartier-Harlin M.-C., Brown J., Goate A., Rossor M., Collinge J., Roberts G., Luthert P., Lantos P., Naruse S., Kaneko K., Tsuji S., Miyatake T., Shimizu T., Kojima T., Nakano I., Yoshioka K., Sakaki Y., Molecular classification of Alzheimer's disease. The Lancet 1991 337 8753 1342 1343 2-s2.0-0025854442
24. Yoshioka K., Miki T., Katsuya T., Ogihara T., Sakaki Y., The717Val→Ile substitution in amyloid precursor protein is associated with familial Alzheimer's disease regardless of ethnic groups. Biochemical and Biophysical Research Communications 1991 178 3 1141 1146 2-s2.0-0025925236 10.1016/0006-291X(91)91011-Z
25. Finckh U., Kuschel C., Anagnostouli M., Patsouris E., Pantes G. V., Gatzonis S., Kapaki E., Davaki P., Lamszus K., Stavrou D., Gal A., Novel mutations and repeated findings of mutations in familial Alzheimer disease. Neurogenetics 2005 6 2 85 89 2-s2.0-20044388573 10.1007/s10048-005-0211-x (Pubitemid 40768119)
26. Chartier-Harlin M.-C., Crawford F., Houlden H., Warren A., Hughes D., Fidani L., Goate A., Rossor M., Roques P., Hardy J., Mullan M., Early-onset Alzheimer's disease caused by mutations at codon 717 of the β -amyloid precursor protein gene. Nature 1991 353 6347 844 846 2-s2.0-0026075602 10.1038/353844a0 (Pubitemid 21912637)
27. Knight W. D., Ahsan R. L., Jackson J., Cipolotti L., Warrington E. K., Fox N. C., Rossor M. N., Pure progressive amnesia and the APPV717G mutation. Alzheimer Disease and Associated Disorders 2009 23 4 410 414 2-s2.0-75949120365 10.1097/WAD.0b013e31819cb7f3
28. Murrell J., Farlow M., Ghetti B., Benson M. D., A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. Science 1991 254 5028 97 99 2-s2.0-0025950987 (Pubitemid 21917324)
29. Murrell J. R., Hake A. M., Quaid K. A., Farlow M. R., Ghetti B., Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene. Archives of Neurology 2000 57 6 885 887 2-s2.0-0034094214 (Pubitemid 30397192)
30. De Jonghe C., Esselens C., Kumar-Singh S., Craessaerts K., Serneels S., Checler F., Annaert W., Van Broeckhoven C., De Strooper B., Pathogenic APP mutations near the γ -secretase cleavage site differentially affect A β secretion and APP C-terminal fragment stability. Human Molecular Genetics 2001 10 16 1665 1671 2-s2.0-0035421638 (Pubitemid 32776296)
31. Godbolt A. K., Beck J. A., Collinge J. C., Cipolotti L., Fox N. C., Rossor M. N., A second family with familial AD and the V717L APP mutation has a later age at onset. Neurology 2006 66 4 611 612 2-s2.0-33645008216 10.1212/01.WNL.0000197791.53828.2C (Pubitemid 43739907)
32. Tomiyama T., Nagata T., Shimada H., Teraoka R., Fukushima A., Kanemitsu H., Takuma H., Kuwano R., Imagawa M., Ataka S., Wada Y., Yoshioka E., Nishizaki T., Watanabe Y., Mori H., A new amyloid β variant favoring oligomerization in Alzheimer's-type dementia. Annals of Neurology 2008 63 3 377 387 2-s2.0-41749096713 10.1002/ana.21321 (Pubitemid 351499867)
33. Rogaev E. I., Sherrington R., Rogaeva E. A., Levesque G., Ikeda M., Llang Y., Chi H., Lin C., Holman K., Tsuda T., Mar L., Sorbi S., Nacmias B., Piacentini S., Amaduccl L., Chumakov I., Cohen D., Lannfelt L., St George-Hyslop P. H., 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 6543 775 778 2-s2.0-0029101491
34. Church A., Prescott J., Lillis S., Rees J., Chance P., Williamson K., Morris H. R., A novel presenilin 1 mutation, I202F occurring at a previously predicted pathogenic site causing autosomal dominant Alzheimer's disease. Neurobiology of Aging 2011 32 3 556.e1 556.e2 2-s2.0-79952900076 10.1016/j.neurobiolaging.2010.09.030
35. Nygaard H. B., Lippa C. F., Mehdi D., Baehring J. M., A novel presenilin 1 mutation in early-Onset Alzheimer's disease with prominent frontal features. American Journal of Alzheimer's Disease and Other Dementias 2014
36. Dobricic V., Stefanova E., Jankovic M., Gurunlian N., Novakovic I., Hardy J., Kostic V., Guerreiro R., Genetic testing in familial and young-onset Alzheimer's disease: mutation spectrum in a Serbian cohort. Neurobiology of Aging 2012 33 7 1481.e7 1481.e12
37. Andreoli V., Trecroci F., La Russa A., Cittadella R., Liguori M., Spadafora P., Caracciolo M., Di Palma G., Colica C., Gambardella A., Quattrone A., Presenilin enhancer-2 gene: Identification of a novel promoter mutation in a patient with early-onset familial Alzheimer's disease. Alzheimer's and Dementia 2011 7 6 574 578 2-s2.0-80755174517 10.1016/j.jalz.2011.02.010
38. Jiao B., Tang B., Liu X., Xu J., Wang Y., Zhou L., Zhang F., Yan X., Zhou Y., Shen L., Mutational analysis in early-onset familial Alzheimer's disease in Mainland China. Neurobiology of Aging 2014
39. Gallo M., Marcello N., Curcio S. A. M., Colao R., Geracitano S., Bernardi L., Anfossi M., Puccio G., Frangipane F., Clodomiro A., Mirabelli M., Vasso F., Smirne N., Muraca G., Di Lorenzo R., Maletta R., Ghidoni E., Bugiani O., Tagliavini F., Giaccone G., Bruni A. C., A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features. Journal of Alzheimer's Disease 2011 25 3 425 431 2-s2.0-79960817329 10.3233/JAD-2011-110185
40. Rossor M. N., Fox N. C., Beck J., Campbell T. C., Collinge J., Incomplete penetrance of familial Alzheimer's disease in a pedigree with a novel presenilin-1 gene mutation. The Lancet 1996 347 9014 1560 (Pubitemid 26162664)
41. Raux G., Guyant-Maréchal L., Martin C., Bou J., Penet C., Brice A., Hannequin D., Frebourg T., Campion D., Molecular diagnosis of autosomal dominant early onset Alzheimer's disease:an update. Journal of Medical Genetics 2005 42 10 793 795 2-s2.0-26944475934 10.1136/jmg.2005.033456 (Pubitemid 41475257)
42. Cruts M., Backhovens H., Wang S.-Y., Van Gassen G., Theuns J., De Jonghe C., Wehnert A., De Voecht J., De Winter G., Cras P., Bruyland M., Datson N., Weissenbach J., Den Dunnen J. T., Martin J.-J., Hendriks L., Van Broeckhoven C., Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3. Human Molecular Genetics 1995 4 12 2363 2371 2-s2.0-0028861041
43. Heckmann J. M., Low W., De Villiers C., Rutherfoord S., Vorster A., Rao H., Morris C. M., Ramesar R. S., Kalaria R. N., Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer's disease. Brain 2004 127 1 133 142 2-s2.0-0347989169 10.1093/brain/awh009 (Pubitemid 38055352)
44. Glenner G. G., Wong C. W., Alzheimer's disease and Down's syndrome: sharing of a unique cerebrovascular amyloid fibril protein. Biochemical and Biophysical Research Communications 1984 122 3 1131 1135 2-s2.0-0021207461 (Pubitemid 14027629)
45. Hardy J. A., Higgins G. A., Alzheimer's disease: the amyloid cascade hypothesis. Science 1992 256 5054 184 185 2-s2.0-0026597063
46. Tanzi R. E., Bertram L., Twenty years of the Alzheimer's disease amyloid hypothesis: a genetic perspective. Cell 2005 120 4 545 555 2-s2.0-13944276825 10.1016/j.cell.2005.02.008 (Pubitemid 40269768)
47. Hardy J., Selkoe D. J., The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics. Science 2002 297 5580 353 356 2-s2.0-0037135111 10.1126/science.1072994 (Pubitemid 34790756)
48. Scheuner D., Eckman C., Jensen M., Song X., Citron M., Suzuki N., Bird T. D., Hardy J., Hutton M., Kukull W., Larson E., Levy-Lahad E., Viitanen M., Peskind E., Poorkaj P., Schellenberg G., Tanzi R., Wasco W., Lannfelt L., Selkoe D., Younkin S., Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease. Nature Medicine 1996 2 8 864 870 10.1038/nm0896-864 (Pubitemid 26296755)
49. Jonsson T., Atwal J. K., Steinberg S., Snaedal J., Jonsson P. V., Bjornsson S., Stefansson H., Sulem P., Gudbjartsson D., Maloney J., Hoyte K., Gustafson A., Liu Y., Lu Y., Bhangale T., Graham R. R., Huttenlocher J., Bjornsdottir G., Andreassen O. A., Jonsson E. G., Palotie A., Behrens T. W., Magnusson O. T., Kong A., Thorsteinsdottir U., Watts R. J., Stefansson K., A mutation in APP protects against Alzheimer's disease and age-related cognitive decline. Nature 2012 488 7409 96 99
50. Esler W. P., Wolfe M. S., A portrait of Alzheimer secretases-new features and familiar faces. Science 2001 293 5534 1449 1454 2-s2.0-0035943345 10.1126/science.1064638 (Pubitemid 32801541)
51. Citron M., Oltersdorf T., Haass C., McConlogue L., Hung A. Y., Seubert P., Vigo-Pelfrey C., Lieberburg I., Selkoe D. J., Mutation of the β -amyloid precursor protein in familial Alzheimer's disease increases β -protein production. Nature 1992 360 6405 672 674 2-s2.0-0026745610 10.1038/360672a0 (Pubitemid 23007680)
52. Steiner H., Uncovering gamma-secretase. Current Alzheimer Research 2004 1 3 175 181 2-s2.0-24144441879
53. Rossor M. N., Newman S., Frackowiak R. S. J., Lantos P., Kennedy A. M., Alzheimer's disease families with amyloid precursor protein mutations. Annals of the New York Academy of Sciences 1993 695 198 202 2-s2.0-0027453504 10.1111/j.1749-6632.1993.tb23052.x (Pubitemid 23348261)
54. Cras P., van Harskamp F., Hendriks L., Ceuterick C., Van Duijn C. M., Stefanko S. Z., Hofman A., Kros J. M., Van Broeckhoven C., Martin J. J., Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala→Gly mutation. Acta Neuropathologica 1998 96 3 253 260 2-s2.0-0031690718 10.1007/s004010050892 (Pubitemid 28419843)
55. Roks G., Van Harskamp F., De Koning I., Cruts M., De Jonghe C., Kumar-Singh S., Tibben A., Tanghe H., Niermeijer M. F., Hofman A., Van Swieten J. C., Van Broeckhoven C., Van Duijn C. M., Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692). Brain 2000 123 10 2130 2140 2-s2.0-0033774379
56. Van Broeckhoven C., Haan J., Bakker E., Hardy J. A., Van Hul W., Wehnert A., Vegter-Van der Vlis M., Roos R. A. C., Amyloid β protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch). Science 1990 248 4959 1120 1122 2-s2.0-0025369198 (Pubitemid 20189867)
57. Fernandez-Madrid I., Levy E., Marder K., Frangione B., Codon 618 variant of Alzheimer amyloid gene associated with inherited cerebral hemorrhage. Annals of Neurology 1991 30 5 730 733 2-s2.0-0025939678
58. Nilsberth C., Westlind-Danielsson A., Eckman C. B., Condron M. M., Axelman K., Forsell C., Stenh C., Luthman J., Teplow D. B., Younkin S. G., Näslund J., Lannfelt L., The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced A β protofibril formation. Nature Neuroscience 2001 4 9 887 893 2-s2.0-17944368176 10.1038/nn0901-887 (Pubitemid 32801591)
59. Basun H., Bogdanovic N., Ingelsson M., Almkvist O., Näslund J., Axelman K., Bird T. D., Nochlin D., Schellenberg G. D., Wahlund L., Lannfelt L., Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease. Archives of Neurology 2008 65 4 499 505 2-s2.0-42249102801 10.1001/archneur.65.4.499 (Pubitemid 351549959)
60. Greenberg S. M., Shin Y., Grabowski T. J., Cooper G. E., Rebeck G. W., Iglesias S., Chapon F., Tournier-Lasserve E., Baron J.-C., Hemorrhagic stroke associated with the Iowa amyloid precursor protein mutation. Neurology 2003 60 6 1020 1022 2-s2.0-0037465714 (Pubitemid 36348940)
61. Sleegers K., Brouwers N., Gijselinck I., Theuns J., Goossens D., Wauters J., Del-Favero J., Cruts M., Van Duijn C. M., Van Broeckhoven C., APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy. Brain 2006 129 11 2977 2983 2-s2.0-33750579333 10.1093/brain/awl203 (Pubitemid 44684518)
62. Guyant-Marechal I., Berger E., Laquerrière A., Rovelet-Lecrux A., Viennet G., Frebourg T., Rumbach L., Campion D., Hannequin D., Intrafamilial diversity of phenotype associated with app duplication. Neurology 2008 71 23 1925 1926 2-s2.0-63849331457 10.1212/01.wnl.0000339400.64213.56
63. Rovelet-Lecrux A., Frebourg T., Tuominen H., Majamaa K., Campion D., Remes A. M., APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage. Journal of Neurology, Neurosurgery and Psychiatry 2007 78 10 1158 1159 2-s2.0-34848922135 10.1136/jnnp.2006.113514
64. Thonberg H., Fallström M., Björkström J., Schoumans J., Nennesmo I., Graff C., Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient. BMC Research Notes 2011 4 476 2-s2.0-80055045412 10.1186/1756-0500-4-476
65. Rovelet-Lecrux A., Hannequin D., Raux G., Le Meur N., Laquerrière A., Vital A., Dumanchin C., Feuillette S., Brice A., Vercelletto M., Dubas F., Frebourg T., Campion D., APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nature Genetics 2006 38 1 24 26 2-s2.0-29444442794 10.1038/ng1718 (Pubitemid 43011878)
66. Filley C. M., Rollins Y. D., Alan Anderson C., Arciniegas D. B., Howard K. L., Murrell J. R., Boyer P. J., Kleinschmidt-DeMasters B. K., Ghetti B., The genetics of very early onset Alzheimer disease. Cognitive and Behavioral Neurology 2007 20 3 149 156 2-s2.0-36649035723 10.1097/WNN.0b013e318145a8c8 (Pubitemid 350195181)
67. Acosta-Baena N., Sepulveda-Falla D., Lopera-Gómez C. M., Jaramillo-Elorza M. C., Moreno S., Aguirre-Acevedo D. C., Saldarriaga A., Lopera F., Pre-dementia clinical stages in presenilin 1 E280A familial early-onset Alzheimer's disease: a retrospective cohort study. The Lancet Neurology 2011 10 3 213 220 2-s2.0-79951726286 10.1016/S1474-4422(10)70323-9
68. Jimenez-Escrig A., Rabano A., Guerrero C., Simon J., Barquero M. S., Güell I., Ginestal R. C., Montero T., Orensanz L., New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonism. European Journal of Neurology 2004 11 10 663 669 2-s2.0-6344248662 10.1111/j.1468-1331. 2004.00865.x (Pubitemid 39389667)
69. Larner A. J., Presenilin-1 mutation Alzheimer's disease: a genetic epilepsy syndrome? Epilepsy and Behavior 2011 21 1 20 22 2-s2.0-79955625095 10.1016/j.yebeh.2011.03.022
70. Gómez-Tortosa E., Barquero S., Barón M., Gil-Neciga E., Castellanos F., Zurdo M., Manzano S., Muoz D. G., Jiménez-Huete A., Rábano A., Sainz M. J., Guerrero R., Gobernado I., Pérez- Pérez J., Jiménez-Escrig A., Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations. Journal of Alzheimer's Disease 2010 19 3 873 884 2-s2.0-77149121108 10.3233/JAD-2010-1292
71. Larner A. J., Doran M., Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene. Journal of Neurology 2006 253 2 139 158 2-s2.0-32844465332 10.1007/s00415-005-0019-5 (Pubitemid 43255883)
72. Larner A. J., Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships. Journal of Alzheimer's Disease 2013 37 4 653 659
73. Karlstrom H., Brooks W. S., Kwok J. B. J., Broe G. A., Kril J. J., McCann H., Halliday G. M., Schofield P. R., Variable phenotype of Alzheimer's disease with spastic paraparesis. Journal of Neurochemistry 2008 104 3 573 583 2-s2.0-38049110977 10.1111/j.1471-4159.2007.05038.x
74. Verkkoniemi A., Kalimo H., Paetau A., Somer M., Iwatsubo T., Hardy J., Haltia M., Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype. Journal of Neuropathology and Experimental Neurology 2001 60 5 483 492 2-s2.0-0035000113 (Pubitemid 32467105)
75. Sodeyama N., Iwata T., Ishikawa K., Mizusawa H., Yamada M., Itoh Y., Otomo E., Matsushita M., Komatsuzaki Y., Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237I1e). Journal of Neurology Neurosurgery and Psychiatry 2001 71 4 556 557 2-s2.0-0034813045 10.1136/jnnp.71.4.556 (Pubitemid 32906889)
76. Wu L., Rosa-Neto P., Hsiung G. Y., Sadovnick A. D., Masellis M., Black S. E., Jia J., Gauthier S., Early-onset familial Alzheimer's disease (EOFAD). Canadian Journal of Neurological Sciences 2012 39 4 436 445
77. Jayadev S., Leverenz J. B., Steinbart E., Stahl J., Klunk W., Yu C., Bird T. D., Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2. Brain 2010 133 4 1143 1154 2-s2.0-77950815769 10.1093/brain/awq033
78. Strittmatter W. J., Saunders A. M., Schmechel D., Pericak-Vance M., Enghild J., Salvesen G. S., Roses A. D., Apolipoprotein E: high-avidity binding to β -amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proceedings of the National Academy of Sciences of the United States of America 1993 90 5 1977 1981 2-s2.0-0027407565 (Pubitemid 23069980)
79. Corder E. H., Saunders A. M., Risch N. J., Strittmatter W. J., Schmechel D. E., Gaskell P. C. Jr., Rimmler J. B., Locke P. A., Conneally P. M., Schmader K. E., Small G. W., Roses A. D., Haines J. L., Pericak-Vance M. A., Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease. Nature Genetics 1994 7 2 180 184 2-s2.0-0028305380 10.1038/ng0694-180 (Pubitemid 24174658)
80. Corder E. H., Saunders A. M., Strittmatter W. J., Schmechel D. E., Gaskell P. C., Small G. W., Roses A. D., Haines J. L., Pericak-Vance M. A., Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 1993 261 5123 921 923 2-s2.0-0027194791 (Pubitemid 23275809)
81. Pastor P., Roe C. M., Villegas A., Bedoya G., Chakraverty S., García G., Tirado V., Norton J., Ríos S., Martínez M., Kosik K. S., Lopera F., Goate A. M., Apolipoprotein E ε 4 modifies Alzheimer's disease onset in an E280A PS1 kindred. Annals of Neurology 2003 54 2 163 169 2-s2.0-0041865226 10.1002/ana.10636 (Pubitemid 36909615)
82. Schmechel D. E., Saunders A. M., Strittmatter W. J., Crain B. J., Hulette C. M., Joo S. H., Pericak-Vance M. A., Goldgaber D., Roses A. D., Increased amyloid β -peptide deposition in cerebral cortex as a consequence of apolipoprotein E genotype in late-onset Alzheimer disease. Proceedings of the National Academy of Sciences of the United States of America 1993 90 20 9649 9653 2-s2.0-0027365822 10.1073/pnas.90.20.9649 (Pubitemid 23315843)
83. Mahley R. W., Weisgraber K. H., Huang Y., Apolipoprotein E4: a causative factor and therapeutic target in neuropathology, including Alzheimer's disease. Proceedings of the National Academy of Sciences of the United States of America 2006 103 15 5644 5651 2-s2.0-33645808672 10.1073/pnas.0600549103
84. Farlow M. R., He Y., Tekin S., Xu J., Lane R., Charles H. C., Impact of APOE in mild cognitive impairment. Neurology 2004 63 10 1898 1901 2-s2.0-8844273984 (Pubitemid 39532387)
85. Grupe A., Abraham R., Li Y., Rowland C., Hollingworth P., Morgan A., Jehu L., Segurado R., Stone D., Schadt E., Karnoub M., Nowotny P., Tacey K., Catanese J., Sninsky J., Brayne C., Rubinsztein D., Gill M., Lawlor B., Lovestone S., Holmans P., O'Donovan M., Morris J. C., Thal L., Goate A., Owen M. J., Williams J., Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants. Human Molecular Genetics 2007 16 8 865 873 2-s2.0-34447559923 10.1093/hmg/ddm031 (Pubitemid 47064316)
86. Coon K. D., Myers A. J., Craig D. W., Webster J. A., Pearson J. V., Lince D. H., Zismann V. L., Beach T. G., Leung D., Bryden L., Halperin R. F., Marlowe L., Kaleem M., Walker D. G., Ravid R., Heward C. B., Rogers J., Papassotiropoulos A., Reiman E. M., Hardy J., Stephan D. A., A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. Journal of Clinical Psychiatry 2007 68 4 613 618 2-s2.0-34047272692 (Pubitemid 46663046)
87. Reiman E. M., Webster J. A., Myers A. J., Hardy J., Dunckley T., Zismann V. L., Joshipura K. D., Pearson J. V., Hu-Lince D., Huentelman M., Craig D. W., Coon K. D., Liang W. S., Herbert R. H., Beach T., Rohrer K. C., Zhao A. S., Leung D., Bryden L., Marlowe L., Kaleem M., Mastroeni D., Grover A., Heward C. B., Ravid R., Rogers J., Hutton M. L., Melquist S., Petersen R. C., Alexander G. E., Caselli R., Kukull W., Papassotiropoulos A., Stephan D. A., GAB2 Alleles Modify Alzheimer's Risk in APOE ε 4 Carriers. Neuron 2007 54 5 713 720 2-s2.0-34249745769 10.1016/j.neuron.2007.05.022 (Pubitemid 46843528)
88. Li H., Wetten S., Li L., St. Jean P. L., Upmanyu R., Surh L., Hosford D., Barnes M. R., Briley J. D., Borrie M., Coletta N., Delisle R., Dhalla D., Ehm M. G., Feldman H. H., Fornazzari L., Gauthier S., Goodgame N., Guzman D., Hammond S., Hollingworth P., Hsiung G., Johnson J., Kelly D. D., Keren R., Kertesz A., King K. S., Lovestone S., Loy-English I., Matthews P. M., Owen M. J., Plumpton M., Pryse-Phillips W., Prinjha R. K., Richardson J. C., Saunders A., Slater A. J., St. George-Hyslop P. H., Stinnett S. W., Swartz J. E., Taylor R. L., Wherrett J., Williams J., Yarnall D. P., Gibson R. A., Irizarry M. C., Middleton L. T., Roses A. D., Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease. Archives of Neurology 2008 65 1 45 53 2-s2.0-38349038412 10.1001/archneurol.2007.3
89. Abraham R., Moskvina V., Sims R., Hollingworth P., Morgan A., Georgieva L., Dowzell K., Cichon S., Hillmer A. M., O'Donovan M. C., Williams J., Owen M. J., Kirov G., A genome-wide association study for late-onset Alzheimer's disease using DNA pooling. BMC Med Genomics 2008 1 44 10.1186/1755-8794-1-44
90. Bertram L., Lange C., Mullin K., Parkinson M., Hsiao M., Hogan M. F., Schjeide B. M. M., Hooli B., DiVito J., Ionita I., Jiang H., Laird N., Moscarillo T., Ohlsen K. L., Elliott K., Wang X., Hu-Lince D., Ryder M., Murphy A., Wagner S. L., Blacker D., Becker K. D., Tanzi R. E., Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE. American Journal of Human Genetics 2008 83 5 623 632 2-s2.0-55049142500 10.1016/j.ajhg.2008.10.008
91. Poduslo S. E., Huang R., Huang J., Smith S., Genome screen of late-onset Alzheimer's extended pedigrees identifies TRPC4AP by haplotype analysis. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics 2009 150 1 50 55 2-s2.0-58849104938 10.1002/ajmg.b.30767
92. Beecham G. W., Martin E. R., Li Y., Slifer M. A., Gilbert J. R., Haines J. L., Pericak-Vance M. A., Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease. American Journal of Human Genetics 2009 84 1 35 43 2-s2.0-58049200536 10.1016/j.ajhg.2008.12.008
93. Carrasquillo M. M., Zou F., Pankratz V. S., Wilcox S. L., Ma L., Walker L. P., Younkin S. G., Younkin C. S., Younkin L. H., Bisceglio G. D., Ertekin-Taner N., Crook J. E., Dickson D. W., Petersen R. C., Graff-Radford N. R., Younkin S. G., Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease. Nature Genetics 2009 41 2 192 198 2-s2.0-59149084048 10.1038/ng.305
94. Potkin S. G., Guffanti G., Lakatos A., Turner J. A., Kruggel F., Fallon J. H., Saykin A. J., Orro A., Lupoli S., Salvi E., Weiner M., Macciardi F., Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's Disease. PLoS ONE 2009 4 8 2-s2.0-68449089420 10.1371/journal.pone.0006501 e6501
95. Lambert J. C., Heath S., Even G., Campion D., Sleegers K., Hiltunen M., Combarros O., Zelenika D., Bullido M. J., Tavernier B., Letenneur L., Bettens K., Berr C., Pasquier F., Fiévet N., Barberger-Gateau P., Engelborghs S., De Deyn P., Mateo I., Franck A., Helisalmi S., Porcellini E., Hanon O., De Pancorbo M. M., Lendon C., Dufouil C., Jaillard C., Leveillard T., Alvarez V., Bosco P., Mancuso M., Panza F., Nacmias B., Boss P., Piccardi P., Annoni G., Seripa D., Galimberti D., Hannequin D., Licastro F., Soininen H., Ritchie K., Blanché H., Dartigues J., Tzourio C., Gut I., Van Broeckhoven C., Alpérovitch A., Lathrop M., Amouyel P., Arosio B., Coto E., Zompo M. D., Deramecourt V., Epelbaum J., Forti P., Brice A., Ferri R., Scarpini E., Siciliano G., Solfrizzi V., Sorbi S., Spalletta G., Ravaglia G., Sahel J., Valdivieso F., Vepsäläinen S., Pilotto A., Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nature Genetics 2009 41 10 1094 1099 2-s2.0-78549264026 10.1038/ng.439
96. Harold D., Abraham R., Hollingworth P., Sims R., Gerrish A., Hamshere M. L., Pahwa J. S., Moskvina V., Dowzell K., Williams A., Jones N., Thomas C., Stretton A., Morgan A. R., Lovestone S., Powell J., Proitsi P., Lupton M. K., Brayne C., Rubinsztein D. C., Gill M., Lawlor B., Lynch A., Morgan K., Brown K. S., Passmore P. A., Craig D., McGuinness B., Todd S., Holmes C., Mann D., Smith A. D., Love S., Kehoe P. G., Hardy J., Mead S., Fox N., Rossor M., Collinge J., Maier W., Jessen F., Schürmann B., Van Den Bussche H., Heuser I., Kornhuber J., Wiltfang J., Dichgans M., Frölich L., Hampel H., Hüll M., Rujescu D., Goate A. M., Kauwe J. S. K., Cruchaga C., Nowotny P., Morris J. C., Mayo K., Sleegers K., Bettens K., Engelborghs S., De Deyn P. P., Van Broeckhoven C., Livingston G., Bass N. J., Gurling H., McQuillin A., Gwilliam R., Deloukas P., Al-Chalabi A., Shaw C. E., Tsolaki M., Singleton A. B., Guerreiro R., Mühleisen T. W., Nöthen M. M., Moebus S., Jöckel K., Klopp N., Wichmann H., Carrasquillo M. M., Pankratz V. S., Younkin S. G., Holmans P. A., O'Donovan M., Owen M. J., Williams J., Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nature Genetics 2009 41 10 1088 1093 2-s2.0-70349558631 10.1038/ng1009-1156d
97. Laumet G., Chouraki V., Grenier-Boley B., Legry V., Heath S., Zelenika D., Fievet N., Hannequin D., Delepine M., Pasquier F., Hanon O., Brice A., Epelbaum J., Berr C., Dartigues J., Tzourio C., Campion D., Lathrop M., Bertram L., Amouyel P., Lambert J., Systematic analysis of candidate genes for Alzheimer's disease in a French, genome-wide association study. Journal of Alzheimer's Disease 2010 20 4 1181 1188 2-s2.0-77954546617 10.3233/JAD-2010- 100126
98. Bettens K., Brouwers N., Van Miegroet H., Gil A., Engelborghs S., De Deyn P. P., Vandenberghe R., Van Broeckhoven C., Sleegers K., Follow-up study of susceptibility loci for Alzheimer's disease and onset age identified by genome-wide association. Journal of Alzheimer's Disease 2010 19 4 1169 1175 2-s2.0-77950348446 10.3233/JAD-2010-1310
99. Seshadri S., Fitzpatrick A. L., Ikram M. A., DeStefano A. L., Gudnason V., Boada M., Bis J. C., Smith A. V., Carassquillo M. M., Lambert J. C., Harold D., Schrijvers E. M. C., Ramirez-Lorca R., Debette S., Longstreth W. T. Jr., Janssens A. C. J. W., Pankratz V. S., Dartigues J. F., Hollingworth P., Aspelund T., Hernandez I., Beiser A., Kuller L. H., Koudstaal P. J., Dickson D. W., Tzourio C., Abraham R., Antunez C., Du Y., Rotter J. I., Aulchenko Y. S., Harris T. B., Petersen R. C., Berr C., Owen M. J., Lopez-Arrieta J., Varadarajan B. N., Becker J. T., Rivadeneira F., Nalls M. A., Graff-Radford N. R., Campion D., Auerbach S., Rice K., Hofman A., Jonsson P. V., Schmidt H., Lathrop M., Mosley T. H., Au R., Psaty B. M., Uitterlinden A. G., Farrer L. A., Lumley T., Ruiz A., Williams J., Amouyel P., Younkin S. G., Wolf P. A., Launer L. J., Lopez O. L., Van Duijn C. M., Breteler M. M. B., Genome-wide analysis of genetic loci associated with Alzheimer disease. Journal of the American Medical Association 2010 303 18 1832 1840 2-s2.0-77952307991 10.1001/jama.2010.574
100. Naj A. C., Beecham G. W., Martin E. R., Gallins P. J., Powell E. H., Konidari I., Whitehead P. L., Cai G., Haroutunian V., Scott W. K., Vance J. M., Slifer M. A., Gwirtsman H. E., Gilbert J. R., Haines J. L., Buxbaum J. D., Pericak-Vance M. A., Dementia revealed: novel chromosome 6 locus for Late-onset alzheimer disease provides genetic evidence for Folate-pathway abnormalities. PLoS Genetics 2010 6 9 2-s2.0-77957910119 10.1371/journal.pgen.1001130 e1001130
101. Lee J. H., Cheng R., Barral S., Reitz C., Medrano M., Lantigua R., Jiménez-Velazquez I. Z., Rogaeva E., St. George-Hyslop P. H., Mayeux R., Identification of novel loci for Alzheimer disease and replication of CLU, PICALM, and BIN1 in Caribbean Hispanic individuals. Archives of Neurology 2011 68 3 320 328 2-s2.0-79952592605 10.1001/archneurol.2010.292
102. Sherva R., Baldwin C. T., Inzelberg R., Vardarajan B., Cupples L. A., Lunetta K., Bowirrat A., Naj A., Pericak-Vance M., Friedland R. P., Farrer L. A., Identification of novel candidate genes for Alzheimer's disease by autozygosity mapping using genome wide SNP data. Journal of Alzheimer's Disease 2011 23 2 349 359 2-s2.0-79951572644 10.3233/JAD-2010-100714
103. Wijsman E. M., Pankratz N. D., Choi Y., Rothstein J. H., Faber K. M., Cheng R., Lee J. H., Bird T. D., Bennett D. A., Diaz-Arrastia R., Goate A. M., Farlow M., Ghetti B., Sweet R. A., Foroud T. M., Mayeux R., Genome-wide association of familial late-onset alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE. PLoS Genetics 2011 7 2 2-s2.0-79952256613 10.1371/journal.pgen.1001308 e1001308
104. Hu X., Pickering E., Liu Y. C., Hall S., Fournier H., Katz E., Dechairo B., John S., van Eerdewegh P., Soares H., Meta-analysis for genome-wide association study identifies multiple variants at the BIN1 locus associated with late-onset Alzheimer's disease. PLoS ONE 2011 6 2 2-s2.0-79952089521 10.1371/journal.pone.0016616 e16616
105. Naj A. C., Jun G., Beecham G. W., Wang L., Vardarajan B. N., Buros J., Gallins P. J., Buxbaum J. D., Jarvik G. P., Crane P. K., Larson E. B., Bird T. D., Boeve B. F., Graff-Radford N. R., De Jager P. L., Evans D., Schneider J. A., Carrasquillo M. M., Ertekin-Taner N., Younkin S. G., Cruchaga C., Kauwe J. S. K., Nowotny P., Kramer P., Hardy J., Huentelman M. J., Myers A. J., Barmada M. M., Demirci F. Y., Baldwin C. T., Green R. C., Rogaeva E., George-Hyslop P. S., Arnold S. E., Barber R., Beach T., Bigio E. H., Bowen J. D., Boxer A., Burke J. R., Cairns N. J., Carlson C. S., Carney R. M., Carroll S. L., Chui H. C., Clark D. G., Corneveaux J., Cotman C. W., Cummings J. L., Decarli C., Dekosky S. T., Diaz-Arrastia R., Dick M., Dickson D. W., Ellis W. G., Faber K. M., Fallon K. B., Farlow M. R., Ferris S., Frosch M. P., Galasko D. R., Ganguli M., Gearing M., Geschwind D. H., Ghetti B., Gilbert J. R., Gilman S., Giordani B., Glass J. D., Growdon J. H., Hamilton R. L., Harrell L. E., Head E., Honig L. S., Hulette C. M., Hyman B. T., Jicha G. A., Jin L., Johnson N., Karlawish J., Karydas A., Kaye J. A., Kim R., Koo E. H., Kowall N. W., Lah J. J., Levey A. I., Lieberman A. P., Lopez O. L., MacK W. J., Marson D. C., Martiniuk F., Mash D. C., Masliah E., McCormick W. C., McCurry S. M., McDavid A. N., McKee A. C., Mesulam M., Miller B. L., Miller C. A., Miller J. W., Parisi J. E., Perl D. P., Peskind E., Petersen R. C., Poon W. W., Quinn J. F., Rajbhandary R. A., Raskind M., Reisberg B., Ringman J. M., Roberson E. D., Rosenberg R. N., Sano M., Schneider L. S., Seeley W., Shelanski M. L., Slifer M. A., Smith C. D., Sonnen J. A., Spina S., Stern R. A., Tanzi R. E., Trojanowski J. Q., Troncoso J. C., Van Deerlin V. M., Vinters H. V., Vonsattel J. P., Weintraub S., Welsh-Bohmer K. A., Williamson J., Woltjer R. L., Cantwell L. B., Dombroski B. A., Beekly D., Lunetta K. L., Martin E. R., Kamboh M. I., Saykin A. J., Reiman E. M., Bennett D. A., Morris J. C., Montine T. J., Goate A. M., Blacker D., Tsuang D. W., Hakonarson H., Kukull W. A., Foroud T. M., Haines J. L., Mayeux R., Pericak-Vance M. A., Farrer L. A., Schellenberg G. D., Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nature Genetics 2011 43 5 436 443 2-s2.0-79955464911 10.1038/ng.801
106. Hollingworth P., Harold D., Sims R., Gerrish A., Lambert J., Carrasquillo M. M., Abraham R., Hamshere M. L., Pahwa J. S., Moskvina V., Dowzell K., Jones N., Stretton A., Thomas C., Richards A., Ivanov D., Widdowson C., Chapman J., Lovestone S., Powell J., Proitsi P., Lupton M. K., Brayne C., Rubinsztein D. C., Gill M., Lawlor B., Lynch A., Brown K. S., Passmore P. A., Craig D., McGuinness B., Todd S., Holmes C., Mann D., Smith A. D., Beaumont H., Warden D., Wilcock G., Love S., Kehoe P. G., Hooper N. M., Vardy E. R. L. C., Hardy J., Mead S., Fox N. C., Rossor M., Collinge J., Maier W., Jessen F., Rüther E., Schürmann B., Heun R., Kölsch H., Van Den Bussche H., Heuser I., Kornhuber J., Wiltfang J., Dichgans M., Frölich L., Hampel H., Gallacher J., Hüll M., Rujescu D., Giegling I., Goate A. M., Kauwe J. S. K., Cruchaga C., Nowotny P., Morris J. C., Mayo K., Sleegers K., Bettens K., Engelborghs S., De Deyn P. P., Van Broeckhoven C., Livingston G., Bass N. J., Gurling H., McQuillin A., Gwilliam R., Deloukas P., Al-Chalabi A., Shaw C. E., Tsolaki M., Singleton A. B., Guerreiro R., Mühleisen T. W., Nöthen M. M., Moebus S., Jöckel K., Klopp N., Wichmann H., Pankratz V. S., Sando S. B., Aasly J. O., Barcikowska M., Wszolek Z. K., Dickson D. W., Graff-Radford N. R., Petersen R. C., Van Duijn C. M., Breteler M. M. B., Ikram M. A., Destefano A. L., Fitzpatrick A. L., Lopez O., Launer L. J., Seshadri S., Berr C., Campion D., Epelbaum J., Dartigues J., Tzourio C., Alpérovitch A., Lathrop M., Feulner T. M., Friedrich P., Riehle C., Krawczak M., Schreiber S., Mayhaus M., Nicolhaus S., Wagenpfeil S., Steinberg S., Stefansson H., Stefansson K., SnÆdal J., Björnsson S., Jonsson P. V., Chouraki V., Genier-Boley B., Hiltunen M., Soininen H., Combarros O., Zelenika D., Delepine M., Bullido M. J., Pasquier F., Mateo I., Frank-Garcia A., Porcellini E., Hanon O., Coto E., Alvarez V., Bosco P., Siciliano G., Mancuso M., Panza F., Solfrizzi V., Nacmias B., Sorbi S., Bossù P., Piccardi P., Arosio B., Annoni G., Seripa D., Pilotto A., Scarpini E., Galimberti D., Brice A., Hannequin D., Licastro F., Jones L., Holmans P. A., Jonsson T., Riemenschneider M., Morgan K., Younkin S. G., Owen M. J., O'Donovan M., Amouyel P., Williams J., Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nature Genetics 2011 43 5 429 436 2-s2.0-79955484414 10.1038/ng.803
107. Logue M. W., Schu M., Vardarajan B. N., Buros J., Green R. C., Go R. C. P., Griffith P., Obisesan T. O., Shatz R., Borenstein A., Cupples L. A., Lunetta K. L., Fallin D. M., Baldwin C. T., Farrer L. A., A comprehensive genetic association study of Alzheimer disease in African Americans. Archives of Neurology 2011 68 12 1569 1579 2-s2.0-83455211863
108. Kamboh M. I., Demirci F. Y., Wang X., Minster R. L., Carrasquillo M. M., Pankratz V. S., Younkin S. G., Saykin A. J., Jun G., Baldwin C., Logue M. W., Buros J., Farrer L., Pericak-Vance M. A., Haines J. L., Sweet R. A., Ganguli M., Feingold E., Dekosky S. T., Lopez O. L., Barmada M. M., Genome-wide association study of Alzheimer's disease. Translational Psychiatry 2012 2 e117 10.1038/tp.2012.45
109. Reitz C., Jun G., Naj A., Rajbhandary R., Vardarajan B. N., Wang L. S., Valladares O., Lin C. F., Larson E. B., Graff-Radford N. R., Evans D., De Jager P. L., Crane P. K., Buxbaum J. D., Murrell J. R., Raj T., Ertekin-Taner N., Logue M., Baldwin C. T., Green R. C., Barnes L. L., Cantwell L. B., Fallin M. D., Go R. C., Griffith P., Obisesan T. O., Manly J. J., Lunetta K. L., Kamboh M. I., Lopez O. L., Bennett D. A., Hendrie H., Hall K. S., Goate A. M., Byrd G. S., Kukull W. A., Foroud T. M., Haines J. L., Farrer L. A., Pericak-Vance M. A., Schellenberg G. D., Mayeux R., Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E 4, and the risk of late-onset Alzheimer disease in African Americans. Journal of the American Medical Association 2013 309 14 1483 1492 10.1001/jama.2013.2973
110. Guerreiro R., Wojtas A., Bras J., Carrasquillo M., Rogaeva E., Majounie E., Cruchaga C., Sassi C., Kauwe J. S., Younkin S., Hazrati L., Collinge J., Pocock J., Lashley T., Williams J., Lambert J. C., Amouyel P., Goate A., Rademakers R., Morgan K., Powell J., St George-Hyslop P., Singleton A., Hardy J., TREM2 variants in Alzheimer's disease. The New England Journal of Medicine 2013 368 2 117 127 10.1056/NEJMoa1211851
111. Jonsson T., Stefansson H., Steinberg S., Jonsdottir I., Jonsson P. V., Snaedal J., Bjornsson S., Huttenlocher J., Levey A. I., Lah J. J., Rujescu D., Hampel H., Giegling I., Andreassen O. A., Engedal K., Ulstein I., Djurovic S., Ibrahim-Verbaas C., Hofman A., Ikram M. A., van Duijn C. M., Thorsteinsdottir U., Kong A., Stefansson K., Variant of TREM2 associated with the risk of Alzheimer's disease. The New England Journal of Medicine 2013 368 2 107 116 10.1056/NEJMoa1211103
112. Lambert J. C., Ibrahim-Verbaas C. A., Harold D., Naj A. C., Sims R., Bellenguez C., Jun G., Destefano A. L., Bis J. C., Beecham G. W., Grenier-Boley B., Russo G., Thornton-Wells T. A., Jones N., Smith A. V., Chouraki V., Thomas C., Ikram M. A., Zelenika D., Vardarajan B. N., Kamatani Y., Lin C. F., Gerrish A., Schmidt H., Kunkle B., Dunstan M. L., Ruiz A., Bihoreau M. T., Choi S. H., Reitz C., Pasquier F., Hollingworth P., Ramirez A., Hanon O., Fitzpatrick A. L., Buxbaum J. D., Campion D., Crane P. K., Baldwin C., Becker T., Gudnason V., Cruchaga C., Craig D., Amin N., Berr C., Lopez O. L., De Jager P. L., Deramecourt V., Johnston J. A., Evans D., Lovestone S., Letenneur L., Moron F. J., Rubinsztein D. C., Eiriksdottir G., Sleegers K., Goate A. M., Fievet N., Huentelman M. J., Gill M., Brown K., Kamboh M. I., Keller L., Barberger-Gateau P., McGuinness B., Larson E. B., Green R., Myers A. J., Dufouil C., Todd S., Wallon D., Love S., Rogaeva E., Gallacher J., St George-Hyslop P., Clarimon J., Lleo A., Bayer A., Tsuang D. W., Yu L., Tsolaki M., Bossu P., Spalletta G., Proitsi P., Collinge J., Sorbi S., Sanchez-Garcia F., Fox N. C., Hardy J., Naranjo M. C., Bosco P., Clarke R., Brayne C., Galimberti D., Mancuso M., Matthews F., Moebus S., Mecocci P., Del Zompo M., Maier W., Hampel H., Pilotto A., Bullido M., Panza F., Caffarra P., Nacmias B., Gilbert J. R., Mayhaus M., Lannfelt L., Hakonarson H., Pichler S., Carrasquillo M. M., Ingelsson M., Beekly D., Alvarez V., Zou F., Valladares O., Younkin S. G., Coto E., Hamilton-Nelson K. L., Gu W., Razquin C., Pastor P., Mateo I., Owen M. J., Faber K. M., Jonsson P. V., Combarros O., 'Donovan M. C. O., Cantwell L. B., Soininen H., Blacker D., Mead S., Mosley T. H., Jr, Bennett D. A., Harris T. B., Fratiglioni L., Holmes C., de Bruijn R. F., Passmore P., Montine T. J., Bettens K., Rotter J. I., Brice A., Morgan K., Foroud T. M., Kukull W. A., Hannequin D., Powell J. F., Nalls M. A., Ritchie K., Lunetta K. L., Kauwe J. S., Boerwinkle E., Riemenschneider M., Boada M., Hiltunen M., Martin E. R., Schmidt R., Rujescu D., Wang L. S., Dartigues J. F., Mayeux R., Tzourio C., Hofman A., Nothen M. M., Graff C., Psaty B. M., Jones L., Haines J. L., Holmans P. A., Lathrop M., Pericak-Vance M. A., Launer L. J., Farrer L. A., van Duijn C. M., Van Broeckhoven C., Moskvina V., Seshadri S., Williams J., Schellenberg G. D., Amouyel P., Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nature Genetics 2013 45 12 1452 1458
113. Kim M., Suh J., Romano D., Truong M. H., Mullin K., Hooli B., Norton D., Tesco G., Elliott K., Wagner S. L., Moir R. D., Becker K. D., Tanzi R. E., Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate α -secretase activity. Human Molecular Genetics 2009 18 20 3987 3996 2-s2.0-70349569016 10.1093/hmg/ddp323
114. Holtzman D. M., Morris J. C., Goate A. M., Alzheimer's disease: the challenge of the second century. Science Translational Medicine 2011 3 77 2-s2.0-79953854897 10.1126/scitranslmed.3002369 77sr1
115. Tosto G., Reitz C., Genome-wide association studies in Alzheimer's disease: a review. Current Neurology and Neuroscience Reports 2013 13 10 381 10.1007/s11910-013-0381-0
116. Goldman J. S., Hahn S. E., Catania J. W., Larusse-Eckert S., Butson M. B., Rumbaugh M., Strecker M. N., Roberts J. S., Burke W., Mayeux R., Bird T., Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Genetics in Medicine 2011 13 6 597 605 2-s2.0-79959193198 10.1097/GIM.0b013e31821d69b8
117. Cohn-Hokke P. E., Elting M. W., Pijnenburg Y. A., van Swieten J. C., Genetics of dementia: update and guidelines for the clinician. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2012 159 6 628 643 10.1002/ajmg.b.32080
118. Loy C. T., Schofield P. R., Turner A. M., Kwok J. B., Genetics of dementia. The Lancet 2014 383 9919 828 840 10.1016/S0140-6736(13)60630-3
119. Guerreiro R. J., Baquero M., Blesa R., Boada M., Brás J. M., Bullido M. J., Calado A., Crook R., Ferreira C., Frank A., Gómez-Isla T., Hernández I., Lleó A., Machado A., Martínez-Lage P., Masdeu J., Molina-Porcel L., Molinuevo J. L., Pastor P., Pérez-Tur J., Relvas R., Oliveira C. R., Ribeiro M. H., Rogaeva E., Sa A., Samaranch L., Sánchez-Valle R., Santana I., Tàrraga L., Valdivieso F., Singleton A., Hardy J., Clarimón J., Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiology of Aging 2010 31 5 725 731 2-s2.0-77950529014 10.1016/j.neurobiolaging.2008.06.012
120. Steinbart E. J., Smith C. O., Poorkaj P., Bird T. D., Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia. Archives of Neurology 2001 58 11 1828 1831 2-s2.0-0034762725 (Pubitemid 33044250)
121. Fortea J., Lladó A., Clarimón J., Lleó A., Oliva R., Peri J., Pintor L., Yagüe J., Blesa R., Molinuevo J. L., Sánchez-Valle R., PICOGEN: five years experience with a genetic counselling program for dementia. Neurologia 2011 26 3 143 149 2-s2.0-79952739268 10.1016/j.nrl.2010.09.011
122. Nilsson P., Iwata N., Muramatsu S., Tjernberg L. O., Winblad B., Saido T. C., Gene therapy in Alzheimer's disease-potential for disease modification. Journal of Cellular and Molecular Medicine 2010 14 4 741 757 2-s2.0-77953949978 10.1111/j.1582-4934.2010.01038.x
123. Tuszynski M. H., Smith D. E., Roberts J., McKay H., Mufson E., Targeted intraparenchymal delivery of human NGF by gene transfer to the primate basal forebrain for 3 months does not accelerate β -amyloid plaque deposition. Experimental Neurology 1998 154 2 573 582 2-s2.0-0032411163 10.1006/exnr.1998. 6956 (Pubitemid 29044226)
124. Nagahara A. H., Merrill D. A., Coppola G., Tsukada S., Schroeder B. E., Shaked G. M., Wang L., Blesch A., Kim A., Conner J. M., Rockenstein E., Chao M. V., Koo E. H., Geschwind D., Masliah E., Chiba A. A., Tuszynski M. H., Neuroprotective effects of brain-derived neurotrophic factor in rodent and primate models of Alzheimer's disease. Nature Medicine 2009 15 3 331 337 2-s2.0-62049083420 10.1038/nm.1912
125. Iwata N., Mizukami H., Shirotani K., Takaki Y., Muramatsu S., Lu B., Gerard N. P., Gerard C., Ozawa K., Saido T. C., Presynaptic localization of neprilysin contributes to efficient clearance of amyloid- β peptide in mouse brain. Journal of Neuroscience 2004 24 4 991 998 2-s2.0-9144266913 10.1523/JNEUROSCI.4792-03.2004 (Pubitemid 38146610)
126. Dodart J. C., Marr R. A., Koistinaho M., Gregersen B. M., Malkani S., Verma I. M., Paul S. M., Gene delivery of human apolipoprotein E alters brain A β burden in a mouse model of Alzheimer's disease. Proceedings of the National Academy of Sciences of the United States of America 2005 102 4 1211 1216 2-s2.0-12844273475 10.1073/pnas.0409072102 (Pubitemid 40170751)
127. Carty N. C., Nash K., Lee D., Mercer M., Gottschall P. E., Meyers C., Muzyczka N., Gordon M. N., Morgan D., Adeno-associated viral (AAV) serotype 5 vector mediated gene delivery of endothelin-converting enzyme reduces A β deposits in APP + PS1 transgenic mice. Molecular Therapy 2008 16 9 1580 1586 2-s2.0-50549103941 10.1038/mt.2008.148
128. Mueller-Steiner S., Zhou Y., Arai H., Roberson E. D., Sun B., Chen J., Wang X., Yu G., Esposito L., Mucke L., Gan L., Antiamyloidogenic and neuroprotective functions of cathepsin B: implications for Alzheimer's disease. Neuron 2006 51 6 703 714 2-s2.0-33748524564 10.1016/j.neuron.2006.07.027 (Pubitemid 44374903)
129. Tuszynski M. H., Thal L., Pay M., Salmon D. P., Sang U H., Bakay R., Patel P., Blesch A., Vahlsing H. L., Ho G., Tong G., Potkin S. G., Fallon J., Hansen L., Mufson E. J., Kordower J. H., Gall C., Conner J., A phase 1 clinical trial of nerve growth factor gene therapy for Alzheimer disease. Nature Medicine 2005 11 5 551 555 2-s2.0-21044458854 10.1038/nm1239 (Pubitemid 40691288)
130. Wu K., Meyers C. A., Guerra N. K., King M. A., Meyer E. M., The effects of rAAV2-mediated NGF gene delivery in adult and aged rats. Molecular Therapy 2004 9 2 262 269 2-s2.0-1342290210 10.1016/j.ymthe.2003.11.010 (Pubitemid 38256552)
131. Hong C.-S., Goins W. F., Goss J. R., Burton E. A., Glorioso J. C., Herpes simplex virus RNAi and neprilysin gene transfer vectors reduce accumulation of Alzheimer's disease-related amyloid- β peptide in vivo. Gene Therapy 2006 13 14 1068 1079 2-s2.0-33745752261 10.1038/sj.gt.3302719
132. Singer O., Marr R. A., Rockenstein E., Crews L., Coufal N. G., Gage F. H., Verma I. M., Masliah E., Targeting BACE1 with siRNAs ameliorates Alzheimer disease neuropathology in a transgenic model. Nature Neuroscience 2005 8 10 1343 1349 2-s2.0-27744588007 10.1038/nn1531 (Pubitemid 41630422)