Ferri CP, Prince M, Brayne C, Brodaty H, Fratiglioni L, Ganguli M, Hall K, Hasegawa K, Hendrie H, Huang Y, Jorm A, Mathers C, Menezes PR, Rimmer E, Scazufca M: Global prevalence of dementia: a Delphi consensus study. Lancet. 2005, 366: 2112-2117. 10.1016/S0140-6736(05)67889-0.
Article
PubMed Central
PubMed
Google Scholar
Yu CE, Marchani E, Nikisch G, Muller U, Nolte D, Hertel A, Wijsman EM, Bird TD: The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease. Arch Neurol. 2010, 67: 631-633. 10.1001/archneurol.2010.87.
PubMed Central
PubMed
Google Scholar
Lowenberg K, Waggoner RW: Familial organic psychosis (Alzheimer's type). Arch Neurol Psychiatry. 1934, 31: 737-754.
Article
Google Scholar
Flugel FE: Zur Diagnostik der Alzheimershen Krankheit. Zentralbl Gesamte Neurol Psychiatr. 1929, 120: 783-787. 10.1007/BF02864478.
Article
Google Scholar
Lauter H: Genealogical findings in a family with Alzheimer's disease. Arch Psychiatr Nervenkr Z Gesamte Neurol Psychiatr. 1961, 202: 126-139.
Article
CAS
PubMed
Google Scholar
Lleo A, Berezovska O, Growdon JH, Hyman BT: Clinical, pathological, and biochemical spectrum of Alzheimer disease associated with PS-1 mutations. Am J Geriatr Psychiatry. 2004, 12: 146-156.
Article
PubMed
Google Scholar
Feldman RG, Chandler KA, Levy LL, Glaser GH: Familial Alzheimer's disease. Neurology. 1963, 13: 811-824.
Article
CAS
PubMed
Google Scholar
St George-Hyslop PH, Tanzi RE, Polinsky RJ, Haines JL, Nee L, Watkins PC, Myers RH, Feldman RG, Pollen D, Drachman D, et al: The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Science. 1987, 235: 885-890. 10.1126/science.2880399.
Article
CAS
PubMed
Google Scholar
Goate A, Chartier-Harlin MC, 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, Rossor M, Owen M, Hardy J: Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature. 1991, 349: 704-706. 10.1038/349704a0.
Article
CAS
PubMed
Google Scholar
Bertram L, Tanzi RE: The current status of Alzheimer's disease genetics: what do we tell the patients?. Pharmacol Res. 2004, 50: 385-396. 10.1016/j.phrs.2003.11.018.
Article
CAS
PubMed
Google Scholar
Mullan M, Houlden H, Windelspecht M, Fidani L, Lombardi C, Diaz P, Rossor M, Crook R, Hardy J, Duff K, Crawford F: 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: 340-342. 10.1038/ng1292-340.
Article
CAS
PubMed
Google Scholar
Schellenberg GD, Bird TD, Wijsman EM, Orr HT, Anderson L, Nemens E, White JA, Bonnycastle L, Weber JL, Alonso ME, Huntington P, Heston LL, Martin GM: Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science. 1992, 258: 668-671. 10.1126/science.1411576.
Article
CAS
PubMed
Google Scholar
St George-Hyslop P, Haines J, Rogaev E, Mortilla M, Vaula G, Pericak-Vance M, Foncin JF, Montesi M, Bruni A, Sorbi S, Rainero I, Pinessi L, Pollen D, Polinsky R, Nee L, Kennedy J, Macciardi F, Rogaeva E, Liang Y, Alexandrova N, Lukiw W, Schlumpf K, Tanzi R, Tsuda T, Farrer L, Cantu JM, Duara R, Amaducci L, Bergamini L, Gusella J, et al: Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14. Nat Genet. 1992, 2: 330-334. 10.1038/ng1292-330.
Article
CAS
PubMed
Google Scholar
Van Broeckhoven C, Backhovens H, Cruts M, De Winter G, Bruyland M, Cras P, Martin JJ: Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3. Nat Genet. 1992, 2: 335-339. 10.1038/ng1292-335.
Article
CAS
PubMed
Google Scholar
Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, Tsuda T, Mar L, Foncin JF, Bruni AC, Montesi MP, Sorbi S, Rainero I, Pinessi L, Nee L, Chumakov I, Pollen D, Brookes A, Sanseau P, Polinsky RJ, Wasco W, Da Silva HAR, Haines JL, Pericak-Vance MA, Tanzi RE, Roses AD, et al: Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature. 1995, 375: 754-760. 10.1038/375754a0.
Article
CAS
PubMed
Google Scholar
Haass C, De Strooper B: The presenilins in Alzheimer's disease - proteolysis holds the key. Science. 1999, 286: 916-919. 10.1126/science.286.5441.916.
Article
CAS
PubMed
Google Scholar
Snider BJ, Norton J, Coats MA, Chakraverty S, Hou CE, Jervis R, Lendon CL, Goate AM, McKeel DW, Morris JC: Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life. Arch Neurol. 2005, 62: 1821-1830. 10.1001/archneur.62.12.1821.
Article
PubMed
Google Scholar
Fox NC, Warrington EK, Seiffer AL, Agnew SK, Rossor MN: Presymptomatic cognitive deficits in individuals at risk of familial Alzheimer's disease. A longitudinal prospective study. Brain. 1998, 121: 1631-1639. 10.1093/brain/121.9.1631.
Article
PubMed
Google Scholar
Godbolt AK, Cipolotti L, Watt H, Fox NC, Janssen JC, Rossor MN: The natural history of Alzheimer disease: a longitudinal presymptomatic and symptomatic study of a familial cohort. Arch Neurol. 2004, 61: 1743-1748. 10.1001/archneur.61.11.1743.
Article
PubMed
Google Scholar
Rovelet-Lecrux A, Hannequin D, Raux G, Meur NL, Laquerriere 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. Nat Genet. 2006, 38: 24-26. 10.1038/ng1718.
Article
CAS
PubMed
Google Scholar
Borchelt DR, Thinakaran G, Eckman CB, Lee MK, Davenport F, Ratovitsky T, Prada CM, Kim G, Seekins S, Yager D, Slunt HH, Wang R, Seeger M, Levey AI, Gandy SE, Copeland NG, Jenkins NA, Price DL, Younkin SG, Sisodia SS: Familial Alzheimer's disease-linked presenilin 1 variants elevate Aβ1-42/1-40 ratio in vitro and in vivo. Neuron. 1996, 17: 1005-1013. 10.1016/S0896-6273(00)80230-5.
Article
CAS
PubMed
Google Scholar
Mann DM, Iwatsubo T, Ihara Y, Cairns NJ, Lantos PL, Bogdanovic N, Lannfelt L, Winblad B, Maat-Schieman ML, Rossor MN: Predominant deposition of amyloid-beta 42(43) in plaques in cases of Alzheimer's disease and hereditary cerebral hemorrhage associated with mutations in the amyloid precursor protein gene. Am J Pathol. 1996, 148: 1257-1266.
PubMed Central
CAS
PubMed
Google Scholar
Citron M, Oltersdorf T, Haass C, McConlogue L, Hung AY, Seubert P, Vigo-Pelfrey C, Lieberburg I, Selkoe DJ: Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production. Nature. 1992, 360: 672-674. 10.1038/360672a0.
Article
CAS
PubMed
Google Scholar
Stenh C, Nilsberth C, Hammarback J, Engvall B, Naslund J, Lannfelt L: The Arctic mutation interferes with processing of the amyloid precursor protein. Neuroreport. 2002, 13: 1857-1860. 10.1097/00001756-200210280-00005.
Article
CAS
PubMed
Google Scholar
Lemere CA, Lopera F, Kosik KS, Lendon CL, Ossa J, Saido TC, Yamaguchi H, Ruiz A, Martinez A, Madrigal L, Hincapie L, Arango JC, Anthony DC, Koo EH, Goate AM, Selkoe DJ: The E280A presenilin 1 Alzheimer mutation produces increased Aβ42 deposition and severe cerebellar pathology. Nat Med. 1996, 2: 1146-1150. 10.1038/nm1096-1146.
Article
CAS
PubMed
Google Scholar
Mann DM, Iwatsubo T, Cairns NJ, Lantos PL, Nochlin D, Sumi SM, Bird TD, Poorkaj P, Hardy J, Hutton M, Prihar G, Crook R, Rossor MN, Haltia M: Amyloid beta protein (Aβ) deposition in chromosome 14-linked Alzheimer's disease: predominance of Aβ42(43). Ann Neurol. 1996, 40: 149-156. 10.1002/ana.410400205.
Article
CAS
PubMed
Google Scholar
Mann DM, Iwatsubo T, Nochlin D, Sumi SM, Levy-Lahad E, Bird TD: Amyloid (Aβ) deposition in chromosome 1-linked Alzheimer's disease: the Volga German families. Ann Neurol. 1997, 41: 52-57. 10.1002/ana.410410110.
Article
CAS
PubMed
Google Scholar
Ishii K, Lippa C, Tomiyama T, Miyatake F, Ozawa K, Tamaoka A, Hasegawa T, Fraser PE, Shoji S, Nee LE, Pollen DA, St George-Hyslop PH, Ii K, Ohtake T, Kalaria RN, Rossor MN, Lantos PL, Cairns NJ, Farrer LA, Mori H: Distinguishable effects of presenilin-1 and APP717 mutations on amyloid plaque deposition. Neurobiol Aging. 2001, 22: 367-376. 10.1016/S0197-4580(01)00216-0.
Article
CAS
PubMed
Google Scholar
Mann DM, Pickering-Brown SM, Takeuchi A, Iwatsubo T: Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease. Am J Pathol. 2001, 158: 2165-2175. 10.1016/S0002-9440(10)64688-3.
Article
PubMed Central
CAS
PubMed
Google Scholar
Ishii K, Ii K, Hasegawa T, Shoji S, Doi A, Mori H: Increased Aβ42(43)-plaque deposition in early-onset familial Alzheimer's disease brains with the deletion of exon 9 and the missense point mutation (H163R) in the PS-1 gene. Neurosci Lett. 1997, 228: 17-20. 10.1016/S0304-3940(97)00347-9.
Article
CAS
PubMed
Google Scholar
Gomez-Isla T, Growdon WB, McNamara MJ, Nochlin D, Bird TD, Arango JC, Lopera F, Kosik KS, Lantos PL, Cairns NJ, Hyman BT: The impact of different presenilin 1 and presenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors. Brain. 1999, 122 (Pt 9): 1709-1719. 10.1093/brain/122.9.1709.
Article
PubMed
Google Scholar
Tabira T, Chui DH, Nakayama H, Kuroda S, Shibuya M: Alzheimer's disease with spastic paresis and cotton wool type plaques. J Neurosci Res. 2002, 70: 367-372. 10.1002/jnr.10392.
Article
CAS
PubMed
Google Scholar
Kumar-Singh S, Cras P, Wang R, Kros JM, van Swieten J, Lubke U, Ceuterick C, Serneels S, Vennekens K, Timmermans JP, Van Marck E, Martin JJ, van Duijn CM, Van Broeckhoven C: Dense-core senile plaques in the Flemish variant of Alzheimer's disease are vasocentric. Am J Pathol. 2002, 161: 507-520. 10.1016/S0002-9440(10)64207-1.
Article
PubMed Central
CAS
PubMed
Google Scholar
Basun H, Bogdanovic N, Ingelsson M, Almkvist O, Naslund J, Axelman K, Bird TD, Nochlin D, Schellenberg GD, Wahlund LO, Lannfelt L: Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease. Arch Neurol. 2008, 65: 499-505. 10.1001/archneur.65.4.499.
Article
PubMed Central
PubMed
Google Scholar
Leverenz JB, Fishel MA, Peskind ER, Montine TJ, Nochlin D, Steinbart E, Raskind MA, Schellenberg GD, Bird TD, Tsuang D: Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotype. Arch Neurol. 2006, 63: 370-376. 10.1001/archneur.63.3.370.
Article
PubMed Central
PubMed
Google Scholar
Fox NC, Warrington EK, Freeborough PA, Hartikainen P, Kennedy AM, Stevens JM, Rossor MN: Presymptomatic hippocampal atrophy in Alzheimer's disease. A longitudinal MRI study. Brain. 1996, 119: 2001-2007. 10.1093/brain/119.6.2001.
Article
PubMed
Google Scholar
Gregory GCMV, Schofield PR, Kril JJ, Halliday GM: Differences in regional brain atrophy in genetic forms of Alzheimer's disease. Neurobiol Aging. 2006, 27: 387-393. 10.1016/j.neurobiolaging.2005.03.011.
Article
CAS
PubMed
Google Scholar
Ginestroni ABM, Della Nave R, Moretti M, Tessa C, Giannelli M, Caffarra P, Nacmias B, Bessi V, Sorbi S, Bracco L, De Stefano N, Mascalchi M: Early structural changes in individuals at risk of familial Alzheimer's disease: a volumetry and magnetization transfer MR imaging study. J Neurol. 2009, 256: 925-932. 10.1007/s00415-009-5044-3.
Article
CAS
PubMed
Google Scholar
Chan D, Janssen JC, Whitwell JL, Watt HC, Jenkins R, Frost C, Rossor MN, Fox NC: Change in rates of cerebral atrophy over time in early-onset Alzheimer's disease: longitudinal MRI study. Lancet. 2003, 362: 1121-1122. 10.1016/S0140-6736(03)14469-8.
Article
PubMed
Google Scholar
Ridha B, Josephs KA: Young-onset dementia: a practical approach to diagnosis. Neurologist. 2006, 12: 2-13. 10.1097/01.nrl.0000186798.86255.69.
Article
PubMed
Google Scholar
Schott JM, Fox NC, Frost C, Scahill RI, Janssen JC, Chan D, Jenkins R, Rossor MN: Assessing the onset of structural change in familial Alzheimer's disease. Ann Neurol. 2003, 53: 181-188. 10.1002/ana.10424.
Article
PubMed
Google Scholar
Knight WD, Ahsan RL, Jackson J, Cipolotti L, Warrington EK, Fox NC, Rossor MN: Pure progressive amnesia and the APPV717G mutation. Alzheimer Dis Assoc Disord. 2009, 23: 410-414. 10.1097/WAD.0b013e31819cb7f3.
Article
PubMed
Google Scholar
Ringman JMONJ, Geschwind D, Medina L, Apostolova LG, Rodriguez Y, Schaffer B, Varpetian A, Tseng B, Ortiz F, Fitten J, Cummings JL, Bartzokis G: Diffusion tensor imaging in preclinical and presymptomatic carriers of familial Alzheimer's disease mutations. Brain. 2007, 130: 1767-1776. 10.1093/brain/awm102.
Article
PubMed
Google Scholar
Julin PAO, Basun H, Lannfelt L, Svensson L, Winblad B, Wahlund LO: Brain volumes and regional cerebral blood flow in carriers of the Swedish Alzheimer amyloid protein mutation. Alzheimer Dis Assoc Disord. 1998, 12: 49-53. 10.1097/00002093-199803000-00008.
Article
CAS
PubMed
Google Scholar
Johnson KA, Lopera F, Jones K, Becker A, Sperling R, Hilson J, Londono J, Siegert I, Arcos M, Moreno S, Madrigal L, Ossa J, Pineda N, Ardila A, Roselli M, Albert MS, Kosik KS, Rios A: Presenilin-1-associated abnormalities in regional cerebral perfusion. Neurology. 2001, 56: 1545-1551.
Article
CAS
PubMed
Google Scholar
Kennedy AM, Rossor MN, Frackowiak RS: Positron emission tomography in familial Alzheimer disease. Alzheimer Dis Assoc Disord. 1995, 9: 17-20. 10.1097/00002093-199505000-00005.
Article
CAS
PubMed
Google Scholar
Guze BHHJ, Mazziotta JC, Baxter LR, Phelps ME: Positron emission tomography and familial Alzheimer's disease: a pilot study. J Am Geriatr Soc. 1992, 40: 120-123.
Article
CAS
PubMed
Google Scholar
Mosconi L, Sorbi S, de Leon MJ, Li Y, Nacmias B, Myoung PS, Tsui W, Ginestroni A, Bessi V, Fayyazz M, Caffarra P, Pupi A: Hypometabolism exceeds atrophy in presymptomatic early-onset familial Alzheimer's disease. J Nucl Med. 2006, 47: 1778-1786.
CAS
PubMed
Google Scholar
Mondadori CRBA, Mustovic H, Schmidt CF, Boesiger P, Nitsch RM, Hock C, Streffer J, Henke K: Enhanced brain activity may precede the diagnosis of Alzheimer's disease by 30 years. Brain. 2006, 129: 2908-2922. 10.1093/brain/awl266.
Article
PubMed
Google Scholar
Filippini N, Zarei M, Beckmann CF, Galluzzi S, Borsci G, Testa C, Bonetti M, Beltramello A, Ghidoni R, Benussi L, Binetti G, Frisoni GB: Regional atrophy of transcallosal prefrontal connections in cognitively normal APOE ε4 carriers. J Magn Reson Imaging. 2009, 29: 1021-1026. 10.1002/jmri.21757.
Article
PubMed
Google Scholar
Dennis NABJ, Stokes J, Need A, Burke JR, Welsh-Bohmer KA, Cabeza R: Temporal lobe functional activity and connectivity in young adult APOE ε4 carriers. Alzheimers Dement. 2009, 6: 303-311. 10.1016/j.jalz.2009.07.003.
Article
PubMed Central
PubMed
Google Scholar
Ringman JM, Medina LD, Braskie M, Rodriguez-Agudelo Y, Geschwind DH, Macias-Islas MA, Cummings JL, Bookheimer S: Effects of risk genes on BOLD activation in presymptomatic carriers of familial Alzheimer's disease mutations during a novelty encoding task. Cerebral Cortex. 2010,
Google Scholar
Klunk WE, Price JC, Mathis CA, Tsopelas ND, Lopresti BJ, Ziolko SK, Bi W, Hoge JA, Cohen AD, Ikonomovic MD, Saxton JA, Snitz BE, Pollen DA, Moonis M, Lippa CF, Swearer JM, Johnson KA, Rentz DM, Fischman AJ, Aizenstein HJ, DeKosky ST: Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees. J Neurosci. 2007, 27: 6174-6184. 10.1523/JNEUROSCI.0730-07.2007.
Article
PubMed Central
CAS
PubMed
Google Scholar
Remes AMLL, Tuominen H, Aalto S, Kemppainen N, Mononen H, Någren K, Parkkola R, Rinne JO: Carbon 11-labeled pittsburgh compound B positron emission tomographic amyloid imaging in patients with APP locus duplication. Arch Neurol. 2008, 65: 540-544. 10.1001/archneur.65.4.540.
Article
PubMed
Google Scholar
Villemagne VLAS, Mizuno T, Brooks WS, Wada Y, Kondo M, Jones G, Watanabe Y, Mulligan R, Nakagawa M, Miki T, Shimada H, O'Keefe GJ, Masters CL, Mori H, Rowe CC: High striatal amyloid beta-peptide deposition across different autosomal Alzheimer disease mutation types. Arch Neurol. 2009, 66: 1537-1544. 10.1001/archneurol.2009.285.
Article
PubMed
Google Scholar
Verdile G, Gnjec A, Miklossy J, Fonte J, Veurink G, Bates K, Kakulas B, Mehta PD, Milward EA, Tan N, Lareu R, Lim D, Dharmarajan A, Martins RN: Protein markers for Alzheimer disease in the frontal cortex and cerebellum. Neurology. 2004, 63: 1385-1392.
Article
CAS
PubMed
Google Scholar
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. 10.1016/S0006-291X(84)80190-4.
Article
CAS
PubMed
Google Scholar
Masters CL, Simms G, Weinman NA, Multhaup G, McDonald BL, Beyreuther K: Amyloid plaque core protein in Alzheimer disease and Down syndrome. Proc Natl Acad Sci USA. 1985, 82: 4245-4249. 10.1073/pnas.82.12.4245.
Article
PubMed Central
CAS
PubMed
Google Scholar
Frank RA, Galasko D, Hampel H, Hardy J, de Leon MJ, Mehta PD, Rogers J, Siemers E, Trojanowski JQ: Biological markers for therapeutic trials in Alzheimer's disease. Proceedings of the biological markers working group; NIA initiative on neuroimaging in Alzheimer's disease. Neurobiol Aging. 2003, 24: 521-536. 10.1016/S0197-4580(03)00002-2.
Article
PubMed
Google Scholar
Moonis M, Swearer JM, Dayaw MP, St George-Hyslop P, Rogaeva E, Kawarai T, Pollen DA: Familial Alzheimer disease: decreases in CSF Aβ42 levels precede cognitive decline. Neurology. 2005, 65: 323-325. 10.1212/01.wnl.0000171397.32851.bc.
Article
CAS
PubMed
Google Scholar
Ringman JM, Younkin SG, Pratico D, Seltzer W, Cole GM, Geschwind DH, Rodriguez-Agudelo Y, Schaffer B, Fein J, Sokolow S, Rosario ER, Gylys KH, Varpetian A, Medina LD, Cummings JL: Biochemical markers in persons with preclinical familial Alzheimer disease. Neurology. 2008, 71: 85-92. 10.1212/01.wnl.0000303973.71803.81.
Article
CAS
PubMed
Google Scholar
Fagan AM, Roe CM, Xiong C, Mintun MA, Morris JC, Holtzman DM: Cerebrospinal fluid tau/beta-amyloid(42) ratio as a prediction of cognitive decline in nondemented older adults. Arch Neurol. 2007, 64: 343-349. 10.1001/archneur.64.3.noc60123.
Article
PubMed
Google Scholar
Shaw LM, Vanderstichele H, Knapik-Czajka M, Clark CM, Aisen PS, Petersen RC, Blennow K, Soares H, Simon A, Lewczuk P, Dean R, Siemers E, Potter W, Lee VM, Trojanowski JQ: Cerebrospinal fluid biomarker signature in Alzheimer's disease neuroimaging initiative subjects. Ann Neurol. 2009, 65: 403-413. 10.1002/ana.21610.
Article
PubMed Central
CAS
PubMed
Google Scholar
Fagan AM, Mintun MA, Mach RH, Lee SY, Dence CS, Shah AR, LaRossa GN, Spinner ML, Klunk WE, Mathis CA, DeKosky ST, Morris JC, Holtzman DM: Inverse relation between in vivo amyloid imaging load and cerebrospinal fluid Aβ(42) in humans. Ann Neurol. 2006, 59: 512-519. 10.1002/ana.20730.
Article
CAS
PubMed
Google Scholar
Blennow K, Hampel H, Weiner M, Zetterberg H: Cerebrospinal fluid and plasma biomarkers in Alzheimer disease. Nat Rev Neurol. 2010, 6: 131-144. 10.1038/nrneurol.2010.4.
Article
CAS
PubMed
Google Scholar
Mayeux R, Honig LS, Tang MX, Manly J, Stern Y, Schupf N, Mehta PD: Plasma Aβ40 and Aβ42 and Alzheimer's disease: relation to age, mortality, and risk. Neurology. 2003, 61: 1185-1190.
Article
CAS
PubMed
Google Scholar
van Oijen M, Hofman A, Soares HD, Koudstaal PJ, Breteler MM: Plasma Aβ(1-40) and Aβ(1-42) and the risk of dementia: a prospective case-cohort study. Lancet Neurol. 2006, 5: 655-660. 10.1016/S1474-4422(06)70501-4.
Article
CAS
PubMed
Google Scholar
Hardy J, Selkoe DJ: The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics. Science. 2002, 297: 353-356. 10.1126/science.1072994.
Article
CAS
PubMed
Google Scholar
Page RM, Gutsmiedl A, Fukumori A, Winkler E, Haass C, Steiner H: Beta-amyloid precursor protein mutants respond to gamma-secretase modulators. J Biol Chem. 2010, 285: 17798-17810. 10.1074/jbc.M110.103283.
Article
PubMed Central
CAS
PubMed
Google Scholar
De Strooper B: Loss-of-function presenilin mutations in Alzheimer disease. Talking Point on the role of presenilin mutations in Alzheimer disease. EMBO Rep. 2007, 8: 141-146. 10.1038/sj.embor.7400897.
Article
PubMed Central
CAS
PubMed
Google Scholar
Scheuner D, Eckman C, Jensen M, Song X, Citron M, Suzuki N, Bird TD, 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. Nat Med. 1996, 2: 864-870. 10.1038/nm0896-864.
Article
CAS
PubMed
Google Scholar
Kuperstein I, Broersen K, Benilova I, Rozenski J, Jonckheere W, Debulpaep M, Vandersteen A, Segers-Nolten I, Van Der Werf K, Subramaniam V, Braeken D, Callewaert G, Bartic C, D'Hooge R, Martins IC, Rousseau F, Schymkowitz J, De Strooper B: Neurotoxicity of Alzheimer disease Aβ-peptides is induced by small changes in the Aβ42 to Aβ40 ratio. EMBO J. 2010, 29: 3408-3420. 10.1038/emboj.2010.211.
Article
PubMed Central
CAS
PubMed
Google Scholar
Czirr E, Leuchtenberger S, Dorner-Ciossek C, Schneider A, Jucker M, Koo EH, Pietrzik CU, Baumann K, Weggen S: Insensitivity to Aβ42-lowering nonsteroidal antiinflammatory drugs and gamma-secretase inhibitors is common among aggressive presenilin-1 mutations. J Biol Chem. 2007, 282: 24504-24513. 10.1074/jbc.M700618200.
Article
CAS
PubMed
Google Scholar
Czirr E, Cottrell BA, Leuchtenberger S, Kukar T, Ladd TB, Esselmann H, Paul S, Schubenel R, Torpey JW, Pietrzik CU, Golde TE, Wiltfang J, Baumann K, Koo EH, Weggen S: Independent generation of Aβ42 and Aβ38 peptide species by γ-secretase. J Biol Chem. 2008, 283: 17049-17054. 10.1074/jbc.M802912200.
Article
CAS
PubMed
Google Scholar
Page RM, Baumann K, Tomioka M, Perez-Revuelta BI, Fukumori A, Jacobsen H, Flohr A, Luebbers T, Ozmen L, Steiner H, Haass C: Generation of Aβ38 and Aβ42 is independently and differentially affected by familial Alzheimer disease-associated presenilin mutations and gamma-secretase modulation. J Biol Chem. 2008, 283: 677-683. 10.1074/jbc.M708754200.
Article
CAS
PubMed
Google Scholar
Hwang DY, Chae KR, Kang TS, Hwang JH, Lim CH, Kang HK, Goo JS, Lee MR, Lim HJ, Min SH, Cho JY, Hong JT, Song CW, Paik SG, Cho JS, Kim YK: Alterations in behavior, amyloid beta-42, caspase-3, and Cox-2 in mutant PS2 transgenic mouse model of Alzheimer's disease. Faseb J. 2002, 16: 805-813. 10.1096/fj.01-0732com.
Article
CAS
PubMed
Google Scholar
Wen PH, Shao X, Shao Z, Hof PR, Wisniewski T, Kelley K, Friedrich VL, Ho L, Pasinetti GM, Shioi J, Robakis NK, Elder GA: Overexpression of wild type but not an FAD mutant presenilin-1 promotes neurogenesis in the hippocampus of adult mice. Neurobiol Dis. 2002, 10: 8-19. 10.1006/nbdi.2002.0490.
Article
CAS
PubMed
Google Scholar
Borchelt DR, Ratovitski T, van Lare J, Lee MK, Gonzales V, Jenkins NA, Copeland NG, Price DL, Sisodia SS: Accelerated amyloid deposition in the brains of transgenic mice coexpressing mutant presenilin 1 and amyloid precursor proteins. Neuron. 1997, 19: 939-945. 10.1016/S0896-6273(00)80974-5.
Article
CAS
PubMed
Google Scholar
Savonenko A, Xu GM, Melnikova T, Morton JL, Gonzales V, Wong MP, Price DL, Tang F, Markowska AL, Borchelt DR: Episodic-like memory deficits in the APPswe/PS1dE9 mouse model of Alzheimer's disease: relationships to beta-amyloid deposition and neurotransmitter abnormalities. Neurobiol Dis. 2005, 18: 602-617. 10.1016/j.nbd.2004.10.022.
Article
CAS
PubMed
Google Scholar
Bateman RJ, Siemers ER, Mawuenyega KG, Wen G, Browning KR, Sigurdson WC, Yarasheski KE, Friedrich SW, Demattos RB, May PC, Paul SM, Holtzman DM: A gamma-secretase inhibitor decreases amyloid-beta production in the central nervous system. Ann Neurol. 2009, 66: 48-54. 10.1002/ana.21623.
Article
PubMed Central
CAS
PubMed
Google Scholar
Gillman KW, Starrett JE, Parker MF, Xie K, Bronson JJ, Marcin LR, McElhone KE, Bergstrom CP, Mate RA, Williams R, Meredith JE, Burton CR, Barten DM, Toyn JH, Roberts SB, Lentz KA, Houston JG, Zaczek R, Albright CF, Decicco CP, MacOr JE, Olson RE: Discovery and evaluation of BMS-708163, a potent, selective and orally bioavailable γ-secretase inhibitor. ACS Med Chem Lett. 2010, 1: 120-124. 10.1021/ml1000239.
Article
PubMed Central
CAS
PubMed
Google Scholar
Rinne JO, Brooks DJ, Rossor MN, Fox NC, Bullock R, Klunk WE, Mathis CA, Blennow K, Barakos J, Okello AA, Rodriguez Martinez de Liano S, Liu E, Koller M, Gregg KM, Schenk D, Black R, Grundman M: 11C-PiB PET assessment of change in fibrillar amyloid-beta load in patients with Alzheimer's disease treated with bapineuzumab: a phase 2, double-blind, placebo-controlled, ascending-dose study. Lancet Neurol. 2010, 9: 363-372. 10.1016/S1474-4422(10)70043-0.
Article
CAS
PubMed
Google Scholar
Siemers ER, Friedrich S, Dean RA, Gonzales CR, Farlow MR, Paul SM, DeMattos RB: Safety and changes in plasma and cerebrospinal fluid amyloid β after a single administration of an amyloid β monoclonal antibody in subjects with Alzheimer disease. Clin Neuropharmacol. 2010, 33: 67-73. 10.1097/WNF.0b013e3181cb577a.
Article
CAS
PubMed
Google Scholar
Zhao Q, Landen J, Burstein AH, McCush F, Alvey C, Billing CB, Ma WW, Kupiec JW, Bednar MM: Pharmacokinetics and pharmacodynamics of ponezumab (PF-04360365) following a single-dose intravenous infusion in patients with mild to moderate Alzheimer's disease [abstract]. Alzheimer's Dement. 2010, 6: S143-
Article
Google Scholar
Hinerfeld DAMM, Swearer JM, Baker SP, Caselli RJ, Rogaeva E, St George-Hyslop P, Pollen DA: Statins differentially affect amyloid precursor protein metabolism in presymptomatic PS1 and non-PS1 subjects. Arch Neurol. 2007, 64: 1672-1673. 10.1001/archneur.64.11.1672.
Article
PubMed
Google Scholar
Steinbart EJ, Smith CO, Poorkaj P, Bird TD: Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia. Arch Neurol. 2001, 58: 1828-1831. 10.1001/archneur.58.11.1828.
Article
CAS
PubMed
Google Scholar
Xiong C, Zhu K, Yu K, Miller JP: Statistical modeling in biomedical research: longitudinal data analysis. Handbook of Statistics. Edited by: Rao CR, Miller JP, Rao DC. 2007, London: Elsevier, 27: 429-463. full_text.
Google Scholar
Endo A: The discovery and development of HMG-CoA reductase inhibitors. J Lipid Res. 1992, 33: 1569-1582.
CAS
PubMed
Google Scholar
Yamamoto A, Sudo H, Endo A: Therapeutic effects of ML-236B in primary hypercholesterolemia. Atherosclerosis. 1980, 35: 259-266. 10.1016/0021-9150(80)90124-0.
Article
CAS
PubMed
Google Scholar