The genetics and neuropathology of Alzheimer’s disease
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Abraham R, Moskvina V, Sims R, Hollingworth P et al (2008) A genome-wide association study for late-onset Alzheimer’s disease using DNA pooling. BMC Med Genomics 1:44
Adams RH, Klein R (2000) Eph receptors and ephrin ligands. Essential mediators of vascular development. Trends Cardiovasc Med 10:183–188
Andersen OM, Reiche J, Schmidt V, Gotthardt M et al (2005) Neuronal sorting protein-related receptor sorLA/LR11 regulates processing of the amyloid precursor protein. Proc Natl Acad Sci USA 102:13461–13466
Andersen OM, Schmidt V, Spoelgen R, Gliemann J et al (2006) Molecular dissection of the interaction between amyloid precursor protein and its neuronal trafficking receptor SorLA/LR11. Biochemistry 45:2618–2628
Basun H, Bogdanovic N, Ingelsson M, Almkvist O et al (2008) Clinical and neuropathological features of the Arctic APP gene mutation causing early-onset Alzheimer disease. Arch Neurol 65:499–505
Beecham GW, Martin ER, Li YJ, Slifer MA et al (2009) Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease. Am J Hum Genet 84:35–43
Beecham GW, Naj AC, Gilbert JR, Haines JL et al (2010) PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility. Psychiatr Genet 20:321–324
Bergmans BA, De Strooper B (2010) gamma-secretases: from cell biology to therapeutic strategies. Lancet Neurol 9:215–226
Bertram L, Lange C, Mullin K, Parkinson M et al (2008) Genome-wide association analysis reveals putative Alzheimer’s disease susceptibility loci in addition to APOE. Am J Hum Genet 83:623–632
Bettens K, Brouwers N, Engelborghs S, De Deyn PP et al (2008) SORL1 is genetically associated with increased risk for late-onset Alzheimer disease in the Belgian population. Hum Mutat 29:769–770
Bornebroek M, Haan J, MaatSchieman MLC, VanDuinen SG et al (1996) Hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D).1. A review of clinical, radiologic and genetic aspects. Brain Pathol 6:111–114
Bu GJ (2009) Apolipoprotein E and its receptors in Alzheimer’s disease: pathways, pathogenesis and therapy. Nat Rev Neurosci 10:333–344
Calabia-Linares C, Robles-Valero J, de la Fuente H, Perez-Martinez M et al (2011) Endosomal clathrin drives actin accumulation at the immunological synapse. J Cell Sci 124:820–830
Cao H, Crocker PR (2011) Evolution of CD33-related siglecs: regulating host immune functions and escaping pathogen exploitation? Immunology 132:18–26
Carrasquillo MM, Zou F, Pankratz VS, Wilcox SL et al (2009) Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer’s disease. Nat Genet 41:192–198
Chibnik LB, Shulman JM, Leurgans SE, Schneider JA et al (2011) CR1 is associated with amyloid plaque burden and age-related cognitive decline. Ann Neurol 69:560–569
Chu SH, Roeder K, Ferrell RE, Devlin B et al (2011) TOMM40 poly-T repeat lengths, age of onset and psychosis risk in Alzheimer disease. Neurobiol Aging 32:2328.e1–2328.e9
Coon KD, Myers AJ, Craig DW, Webster JA et al (2007) A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer’s disease. J Clin Psychiatry 68:613–618
Coppus A, Evenhuis H, Verberne GJ, Visser F et al (2006) Dementia and mortality in persons with Down’s syndrome. J Intellect Disabil Res 50:768–777
Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE et al (1993) Gene dose of apolipoprotein-E Type-4 allele and the risk of Alzheimer’s disease in late onset families. Science 261:921–923
Cramer PE, Cirrito JR, Wesson DW, Lee CY et al (2012) ApoE-directed therapeutics rapidly clear beta-amyloid and reverse deficits in AD mouse models. Science 335:1503–1506
Cras P, van Harskamp F, Hendriks L, Ceuterick C et al (1998) Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala → Gly mutation. Acta Neuropathol 96:253–260
Crehan H, Holton P, Wray S, Pocock J et al (2011) Complement receptor 1 (CR1) and Alzheimer’s disease. Immunobiology 217:244–250
Crocker PR, Paulson JC, Varki A (2007) Siglecs and their roles in the immune system. Nat Rev Immunol 7:255–266
Cruchaga C, Nowotny P, Kauwe JS, Ridge PG et al (2011) Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease. Arch Neurol 68:1013–1019
Davidson YS, Raby S, Foulds PG, Robinson A et al (2011) TDP-43 pathological changes in early onset familial and sporadic Alzheimer’s disease, late onset Alzheimer’s disease and Down’s syndrome: association with age, hippocampal sclerosis and clinical phenotype. Acta Neuropathol 122:703–713
De Jager PL, Shulman JM, Chibnik LB, Keenan BT et al (2012) A genome-wide scan for common variants affecting the rate of age-related cognitive decline. Neurobiol Aging 33(5):1017.e1–e15
Depaepe V, Suarez-Gonzalez N, Dufour A, Passante L et al (2005) Ephrin signalling controls brain size by regulating apoptosis of neural progenitors. Nature 435:1244–1250
Diedrich JF, Minnigan H, Carp RI, Whitaker JN et al (1991) Neuropathological changes in scrapie and Alzheimer’s disease are associated with increased expression of apolipoprotein E and cathepsin D in astrocytes. J Virol 65:4759–4768
Dowling JJ, Gibbs EM, Feldman EL (2008) Membrane traffic and muscle: lessons from human disease. Traffic 9:1035–1043
Duffy SL, Coulthard MG, Spanevello MD, Herath NI et al (2008) Generation and characterization of EphA1 receptor tyrosine kinase reporter knockout mice. Genesis 46:553–561
Dustin ML, Olszowy MW, Holdorf AD, Li J et al (1998) A novel adaptor protein orchestrates receptor patterning and cytoskeletal polarity in T-cell contacts. Cell 94:667–677
Farrer LA, Cupples LA, Haines JL, Hyman B et al (1997) Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease: a meta-analysis. JAMA 278:1349–1356
Genin E, Hannequin D, Wallon D, Sleegers K et al (2011) APOE and Alzheimer disease: a major gene with semi-dominant inheritance. Mol Psychiatry 16:903–907
Glenner GG, Wong CW (1984) Alzheimer’s disease: initial report of the purification and characterization of a novel cerebrovascular amyloid protein. Biochem Biophys Res Commun 120:885–890
Goate A, Chartier-Harlin M-C, Mullan M, Brown J et al (1991) Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer’s disease. Nature 349:704–706
Gomez-Isla T, Growdon WB, McNamara MJ, Nochlin D et al (1999) 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 122:1709–1719
Grabowski TJ, Cho HS, Vonsattel JPG, Rebeck GW et al (2001) Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy. Ann Neurology 49:697–705
Grupe A, Abraham R, Li Y, Rowland C et al (2007) Evidence for novel susceptibility genes for late-onset Alzheimer’s disease from a genome-wide association study of putative functional variants. Hum Mol Genet 16:865–873
Guardia-Laguarta C, Pera M, Clarimon J, Molinuevo JL et al (2010) Clinical, neuropathologic, and biochemical profile of the amyloid precursor protein I716F mutation. J Neuropathol Exp Neurol 69:53–59
Hafner C, Meyer S, Langmann T, Schmitz G et al (2005) Ephrin-B2 is differentially expressed in the intestinal epithelium in Crohn’s disease and contributes to accelerated epithelial wound healing in vitro. World J Gastroenterol 11:4024–4031
Halliday G, Brooks W, Arthur H, Creasey H et al (1997) Further evidence for an association between a mutation in the APP gene and Lewy body formation. Neurosci Lett 227:49–52
Harold D, Abraham R, Hollingworth P, Sims R et al (2009) Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer’s disease. Nat Genet 41:1088–1093
Heilig EA, Xia W, Shen J, Kelleher RJ 3rd (2010) A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity. J Biol Chem 285:22350–22359
Himanen JP, Saha N, Nikolov DB (2007) Cell-cell signaling via Eph receptors and ephrins. Curr Opin Cell Biol 19:534–542
Hoglinger GU, Melhem NM, Dickson DW, Sleiman PM et al (2011) Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet 43:699–705
Holen HL, Nustad K, Aasheim HC (2010) Activation of EphA receptors on CD4+ CD45RO+ memory cells stimulates migration. J Leukoc Biol 87:1059–1068
Hollingworth P, Harold D, Sims R, Gerrish A et al (2011) Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer’s disease. Nat Genet 43:429–435
Hollingworth P, Sweet R, Sims R, Harold D et al (2011) Genome-wide association study of Alzheimer’s disease with psychotic symptoms. Mol Psychiatry. doi: 10.1038/mp.2011.125
Houlden H, Baker M, McGowan E, Lewis P et al (2000) Variant Alzheimer’s disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations. Ann Neurology 48:806–808
Houlden H, Crook R, Dolan RJ, McLaughlin J et al (2001) A novel presenilin mutation (M233V) causing very early onset Alzheimer’s disease with Lewy bodies. Neurosci Lett 313:93–95
Innerarity TL, Hui DY, Bersot TP, Mahley RW (1986) Type III hyperlipoproteinemia: a focus on lipoprotein receptor–apolipoprotein E2 interactions. Adv Exp Med Biol 201:273–288
Ishibashi K, Suzuki M, Sasaki S, Imai M (2001) Identification of a new multigene four-transmembrane family (MS4A) related to CD20, HTm4 and beta subunit of the high-affinity IgE receptor. Gene 264:87–93
Ishii K, Lippa C, Tomiyama T, Miyatake F et al (2001) Distinguishable effects of Presenilin-1 and APP717 mutations on amyloid plaque deposition. Neurobiol Aging 22:367–376
Ishikawa A, Piao YS, Miyashita A, Kuwano R et al (2005) A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer’s disease. Ann Neurol 57:429–434
Ivanov AI, Romanovsky AA (2006) Putative dual role of ephrin–Eph receptor interactions in inflammation. IUBMB Life 58:389–394
Iwamoto N, Abe-Dohmae S, Sato R, Yokoyama S (2006) ABCA7 expression is regulated by cellular cholesterol through the SREBP2 pathway and associated with phagocytosis. J Lipid Res 47:1915–1927
Iwatsubo T, Odaka A, Suzuki N, Mizusawa H et al (1994) Visualization of a-beta-42(43) and a-beta-40 in senile plaques with end-specific a-beta monoclonals—evidence that an initially deposited species is a-beta-42(43). Neuron 13:45–53
Jarrett JT, Berger EP, Lansbury PT Jr (1993) The carboxy terminus of the beta amyloid protein is critical for the seeding of amyloid formation: implications for the pathogenesis of Alzheimer’s disease. Biochemistry 32:4693–4697
Jayadev S, Leverenz JB, Steinbart E, Stahl J et al (2010) Alzheimer’s disease phenotypes and genotypes associated with mutations in presenilin 2. Brain 133:1143–1154
Jones L, Harold D, Williams J (2010) Genetic evidence for the involvement of lipid metabolism in Alzheimer’s disease. Biochim Biophys Acta 1801:754–761
Jun G, Naj AC, Beecham GW, Wang LS et al (2010) Meta-analysis confirms CR1, CLU, and PICALM as Alzheimer disease risk loci and reveals interactions with APOE genotypes. Arch Neurol 67:1473–1484
Kamino K, Orr HT, Payami H, Wijsamn EM et al (1992) Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region. Am J Hum Genet 51:998–1014
Kaneko H, Kakita A, Kasuga K, Nozaki H et al (2007) Enhanced accumulation of phosphorylated alpha-synuclein and elevated beta-amyloid 42/40 ratio caused by expression of the presenilin-1 deltaT440 mutant associated with familial Lewy body disease and variant Alzheimer’s disease. J Neurosci 27:13092–13097
Kang J, Lemaire H-G, Unterbeck A, Salbaum JM et al (1987) The precursor of Alzheimer’s disease amyloid A4 protein resembles a cell-surface receptor. Nature 325:733–736
Kasuga K, Shimohata T, Nishimura A, Shiga A et al (2009) Identification of independent APP locus duplication in Japanese patients with early-onset Alzheimer disease. J Neurol Neurosurg Psychiat 80:1050–1052
Kauwe JS, Jacquart S, Chakraverty S, Wang J et al (2007) Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer’s disease presenilin 1 mutation. Ann Neurol 61:446–453
Keene CD, Cudaback E, Li X, Montine KS et al (2011) Apolipoprotein E isoforms and regulation of the innate immune response in brain of patients with Alzheimer’s disease. Curr Opin Neurobiol 21:920–928
Kim J, Basak JM, Holtzman DM (2009) The role of apolipoprotein E in Alzheimer’s disease. Neuron 63:287–303
Kim JM, Wu H, Green G, Winkler CA et al (2003) CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility. Science 300:1298–1300
Kim WS, Weickert CS, Garner B (2008) Role of ATP-binding cassette transporters in brain lipid transport and neurological disease. J Neurochem 104:1145–1166
Kimura R, Yamamoto M, Morihara T, Akatsu H et al (2009) SORL1 is genetically associated with Alzheimer disease in a Japanese population. Neurosci Lett 461:177–180
Kolsch H, Jessen F, Wiltfang J, Lewczuk P et al (2009) Association of SORL1 gene variants with Alzheimer’s disease. Brain Res 1264:1–6
Kumar-Singh S, Cras P, Wang R, Kros JM et al (2002) Dense-core senile plaques in the Flemish variant of Alzheimer’s disease are vasocentric. Am J Pathol 161:507–520
Kwok JBJ, Halliday GM, Brooks WS, Dolios G et al (2003) Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer’s disease with non-cored plaques and no neuritic dystrophy. J Biol Chem 278:6748–6754
Lai KO, Ip NY (2009) Synapse development and plasticity: roles of ephrin/Eph receptor signaling. Curr Opin Neurobiol 19:275–283
Lambert JC, Heath S, Even G, Campion D et al (2009) Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer’s disease. Nat Genet 41:1094–1099
Lambert JC, Sleegers K, Gonzalez-Perez A, Ingelsson M et al (2010) The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer’s disease: a meta-analysis study. J Alzheimers Dis 22:247–255
Lantos PL, Ovenstone IM, Johnson J, Clelland CA et al (1994) Lewy bodies in the brain of two members of a family with the 717 (Val to Ile) mutation of the amyloid precursor protein gene. Neurosci Lett 172:77–79
Laumet G, Chouraki V, Grenier-Boley B, Legry V et al (2010) Systematic analysis of candidate genes for Alzheimer’s disease in a French, genome-wide association study. J Alzheimers Dis 20:1181–1188
Le TV, Crook R, Hardy J, Dickson DW (2001) Cotton wool plaques in non-familial late-onset Alzheimer disease. J Neuropathol Exp Neurol 60:1051–1061
Lee JH, Cheng R, Barral S, Reitz C et al (2011) Identification of novel loci for Alzheimer disease and replication of CLU, PICALM, and BIN1 in Caribbean Hispanic individuals. Arch Neurol 68:320–328
Lee JH, Cheng R, Honig LS, Vonsattel JPG et al (2008) Association between genetic variants in SORL1 and autopsy-confirmed Alzheimer disease. Neurology 70:887–889
Lee JH, Cheng R, Schupf N, Manly J et al (2007) The association between genetic variants in SORL1 and Alzheimer disease in an urban, multiethnic, community-based cohort. Arch Neurol 64:501–506
Lehtonen S, Zhao F, Lehtonen E (2002) CD2-associated protein directly interacts with the actin cytoskeleton. Am J Physiol Renal Physiol 283:F734–F743
Leverenz JB, Fishel MA, Peskind ER, Montine TJ et al (2006) Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotype. Arch Neurol 63:370–376
Leverenz JB, Raskind MA (1998) Early amyloid deposition in the medial temporal lobe of young Down syndrome patients: a regional quantitative analysis. Exp Neurol 150:296–304
Levy-Lahad E, Wasco W, Poorkaj P, Romano DM et al (1995) Candidate gene for the chromosome 1 familial Alzheimer’s disease locus. Science 269:973–977
Li H, Wetten S, Li L, St Jean PL et al (2008) Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease. Arch Neurol 65:45–53
Li Y, Rowland C, Catanese J, Morris J et al (2008) SORL1 variants and risk of late-onset Alzheimer’s disease. Neurobiol Dis 29:293–296
Liang Y, Tedder TF (2001) Identification of a CD20-, FcepsilonRIbeta-, and HTm4-related gene family: sixteen new MS4A family members expressed in human and mouse. Genomics 72:119–127
Lippa CF, Fujiwara H, Mann DM, Giasson B et al (1998) Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer’s disease patients with mutations in presenilin and amyloid precursor protein genes. Am J Pathol 153:1365–1370
Lippa CF, Saunders AM, Smith TW, Swearer JM et al (1996) Familial and sporadic Alzheimer’s disease: neuropathology cannot exclude a final common pathway. Neurology 46:406–412
Lipsky LPE, Abramson SB, Crofford L, Dubois RN et al (1998) The classification of cyclooxygenase inhibitors. J Rheumatol 25:2298–2303
Liu F, AriasVasquez A, Sleegers K, Aulchenko YS et al (2007) A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population. Am J Hum Genet 81:17–31
Lowik MM, Groenen PJ, Levtchenko EN, Monnens LA et al (2009) Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis—a review. Eur J Pediatr 168:1291–1304
Mahley RW, Rall SC Jr (1999) Is epsilon4 the ancestral human apoE allele? Neurobiol Aging 20:429–430
Mahley RW, Rall SC Jr (2000) Apolipoprotein E: far more than a lipid transport protein. Annu Rev Genomics Hum Genet 1:507–537
Mahley RW, Weisgraber KH, Huang Y (2009) Apolipoprotein E: structure determines function, from atherosclerosis to Alzheimer’s disease to AIDS. J Lipid Res 50(Suppl):S183–S188
Mann DMA, Iwatsubo T, Cairns NJ, Lantos PL et al (1996) Amyloid beta protein (A beta) deposition in chromosome 14-linked Alzheimer’s disease: predominance of A beta(42(43)). Ann Neurol 40:149–156
Mann DMA, Iwatsubo T, Ihara Y, Cairns NJ et al (1996) 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 148:1257–1266
Mann DMA, Iwatsubo T, Nochlin D, Sumi SM et al (1997) Amyloid (A beta) deposition in chromosome 1-linked Alzheimer’s disease: the Volga German families. Ann Neurol 41:52–57
Mann DMA, Pickering-Brown SM, Takeuchi A, Iwatsubo T (2001) Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer’s disease. Am J Pathol 158:2165–2175
Masters CL, Simms G, Weinman NA, Multhaup G et al (1985) Amyloid plaque core protein in Alzheimer disease and Down syndrome. Proc Natl Acad Sci USA 82:4245–4249
McGeer PL, Rogers J (1992) Anti-inflammatory agents as a therapeutic approach to Alzheimer’s disease. Neurology 42:447–449
Meng Y, Lee JH, Cheng R, GeorgeHyslop P et al (2007) Association between SORLI and Alzheimer’s disease in a genome-wide study. NeuroReport 18:1761–1764
Miklossy J, Taddei K, Suva D, Verdile G et al (2003) Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer’s disease. Neurobiol Aging 24:655–662
Minster RL, DeKosky ST, Kamboh MI (2008) No association of SORL1 SNPs with Alzheimer’s disease. Neurosci Lett 440:190–192
Musunuru K, Strong A, Frank-Kamenetsky M, Lee NE et al (2010) From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. Nature 466:714–719
Naj AC, Beecham GW, Martin ER, Gallins PJ et al (2010) Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. PLoS Genet 6:e1001130
Naj AC, Jun G, Beecham GW, Wang L-S et al (2011) Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer’s disease. Nat Genet 43:436–441
Namba Y, Tomonaga M, Kawasaki H, Otomo E et al (1991) Apolipoprotien E immunoreactivity in cerebral amyloid deposits and neurofibrillary tangles in Alzheimer’s disease and kuru plaque amyloid in Creutzfeldt–Jakob disease. Brain Res 541:163–166
Naslund J, Schierhorn A, Hellman U, Lannfelt L et al (1994) Relative abundance of Alzheimer a-beta amyloid peptide variants in Alzheimer-disease and normal aging. Proc Natl Acad Sci USA 91:8378–8382
Natte R, Maat-Schieman MLC, Haan J, Bornebroek M et al (2001) Dementia in hereditary cerebral hemorrhage with amyloidosis-Dutch type is associated with cerebral amyloid angiopathy but is independent of plaques and neurofibrillary tangles. Ann Neurol 50:765–772
Nilsberth C, Westlinddanielsson A, Eckman CB, Condron MM et al (2001) The ‘Arctic’ APP mutation (E693G) causes Alzheimer’s disease by enhanced A beta protofibril formation. Nat Neurosci 4:887–893
Nuutinen T, Suuronen T, Kauppinen A, Salminen A (2009) Clusterin: a forgotten player in Alzheimer’s disease. Brain Res Rev 61:89–104
O’Brien RJ, Wong PC (2011) Amyloid precursor protein processing and Alzheimer’s disease. Annu Rev Neurosci 34:185–204
Pasquale EB (2005) Eph receptor signalling casts a wide net on cell behaviour. Nat Rev Mol Cell Biol 6:462–475
Pastor P, Roe CM, Villegas A, Bedoya G et al (2003) Apolipoprotein E epsilon 4 modifies Alzheimer’s disease onset in an E280A PS1 kindred. Ann Neurol 54:163–169
Pericak-Vance MA, Bebout JL, Gaskell PC, Yamaoka LH et al (1991) Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage. Am J Hum Genet 48:1034–1050
Poliakov A, Cotrina M, Wilkinson DG (2004) Diverse roles of eph receptors and ephrins in the regulation of cell migration and tissue assembly. Dev Cell 7:465–480
Prendergast GC, Muller AJ, Ramalingam A, Chang MY (2009) BAR the door: cancer suppression by amphiphysin-like genes. Biochim Biophys Acta 1795:25–36
Rao Y, Haucke V (2011) Membrane shaping by the Bin/amphiphysin/Rvs (BAR) domain protein superfamily. Cell Mol Life Sci 68:3983–3993
Reiman EM, Webster JA, Myers AJ, Hardy J et al (2007) GAB2 alleles modify Alzheimer’s risk in APOE epsilon 4 carriers. Neuron 54:713–720
Reitz C, Cheng R, Rogaeva E, Lee JH et al (2011) Meta-analysis of the association between variants in SORL1 and Alzheimer disease. Arch Neurol 68:99–106
Ren G, Vajjhala P, Lee JS, Winsor B et al (2006) The BAR domain proteins: molding membranes in fission, fusion, and phagy. Microbiol Mol Biol Rev 70:37–120
Revesz T, McLaughlin JL, Rossor MN, Lantos PL (1997) Pathology of familial Alzheimer’s disease with Lewy bodies. J Neural Transm Suppl 51:121–135
Rogaeva E, Meng Y, Lee JH, Gu Y et al (2007) The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nat Genet 39:168–177
Roses AD, Lutz MW, Amrine-Madsen H, Saunders AM et al (2010) A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer’s disease. Pharmacogenomics J 10:375–384
Rossi G, Giaccone G, Maletta R, Morbin M et al (2004) A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene. Neurology 63:910–912
Rovelet-ecruz A, Hannequin D, Raux G, LeMeur N et al (2006) APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 38:24–26
Sakamoto A, Sugamoto Y, Tokunaga Y, Yoshimuta T et al (2011) Expression profiling of the ephrin (EFN) and Eph receptor (EPH) family of genes in atherosclerosis-related human cells. J Int Med Res 39:522–527
Scheuner D, Eckman C, Jensen M, Song X et al (1996) 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 2:864–870
Schjeide BM, McQueen MB, Mullin K, DiVito J et al (2009) Assessment of Alzheimer’s disease case–control associations using family-based methods. Neurogenetics 10:19–25
Seshadri S, DeStefano AL, Au R, Massaro JM et al (2007) Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. BMC Med Genet 8(Suppl 1):S15
Seshadri S, Fitzpatrick AL, Ikram MA, DeStefano AL et al (2010) Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA 303:1832–1840
Shen J, Kelleher RJ 3rd (2007) The presenilin hypothesis of Alzheimer’s disease: evidence for a loss-of-function pathogenic mechanism. Proc Natl Acad Sci USA 104:403–409
Shen L, Kim S, Risacher SL, Nho K et al (2010) Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: a study of the ADNI cohort. Neuroimage 53:1051–1063
Shepherd CE, Gregory GC, Vickers JC, Brooks WS et al (2004) Positional effects of presenilin-1 mutations on tau phosphorylation in cortical plaques. Neurobiol Dis 15:115–119
Shih NY, Li J, Cotran R, Mundel P et al (2001) CD2AP localizes to the slit diaphragm and binds to nephrin via a novel C-terminal domain. Am J Pathol 159:2303–2308
Sleegers K, Brouwers N, Gijselinck I, Theuns J et al (2006) APP duplication is sufficient to cause early onset Alzheimer’s dementia with cerebral amyloid angiopathy. Brain 129:2977–2983
Sleegers K, Lambert JC, Bertram L, Cruts M et al (2010) The pursuit of susceptibility genes for Alzheimer’s disease: progress and prospects. Trends Genet 26:84–93
Snider BJ, Norton J, Coats MA, Chakraverty S et al (2005) Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life. Arch Neurol 62:1821–1830
Spoelgen R, vonArnim CAF, Thomas AV, Peltan ID et al (2006) Interaction of the cytosolic domains of sorLA/LR11 with the amyloid precursor protein (APP) and beta-secretase beta-site APP-cleaving enzyme. J Neurosci 26:418–428
St George-Hyslop P, Crapper McLachlan D, Tuda T, Rogaev E et al (1994) Alzheimer’s disease and possible gene interaction. Science 263:537
Steiner H, Revesz T, Neumann M, Romig H et al (2001) A pathogenic presenilin-1 deletion causes abberrant A beta 42 production in the absence of congophilic amyloid plaques. J Biol Chem 276:7233–7239
Strittmatter WJ, Saunders AM, Schmechel D, Pericak Vance M et al (1993) Apolipoprotein-E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc Natl Acad Sci USA 90:1977–1981
Sudo S, Shiozawa M, Cairns NJ, Wada Y (2005) Aberrant accentuation of neurofibrillary degeneration in the hippocampus of Alzheimer’s disease with amyloid precursor protein 717 and presenilin-1 gene mutations. J Neurol Sci 234:55–65
Taira K, Bujo H, Hirayama S, Yamazaki H et al (2001) LR11, a mosaic LDL receptor family member, mediates the uptake of ApoE-rich lipoproteins in vitro. Arterioscler Thromb Vasc Biol 21:1501–1506
Takao M, Ghetti B, Hayakawa I, Ikeda E et al (2002) A novel mutation (G217D) in the Presenilin 1 gene (PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum. Acta Neuropathol 104:155–170
Tamaoka A, Fraser PE, Ishii K, Sahara N et al (1998) Amyloid-β-protein isoforms in brain of subjects with PS1-linked, βAPP-linked and sporadic Alzheimer disease. Mol Brain Res 56:178–185
Tamaoka A, Odaka A, Ishibashi Y, Usami M et al (1994) App717 missense mutation affects the ratio of amyloid-beta protein species (a-beta-1–42/43 and a-beta-1–40) in familial Alzheimers-disease brain. J Biol Chem 269:32721–32724
Tamaoka A, Sawamura N, Odaka A, Suzuki N et al (1995) Amyloid-beta protein-1–42/43 (a-beta-1–42/43) in cerebellar diffuse plaques—enzyme-linked-immunosorbent-assay and immunocytochemical study. Brain Res 679:151–156
Tan EK, Lee J, Chen CP, Teo YY et al (2009) SORL1 haplotypes modulate risk of Alzheimer’s disease in Chinese. Neurobiol Aging 30:1048–1051
Tebar F, Bohlander SK, Sorkin A (1999) Clathrin assembly lymphoid myeloid leukemia (CALM) protein: localization in endocytic-coated pits, interactions with clathrin, and the impact of overexpression on clathrin-mediated traffic. Mol Biol Cell 10:2687–2702
Teslovich TM, Musunuru K, Smith AV, Edmondson AC et al (2010) Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466:707–713
Thaker U, McDonagh AM, Iwatsubo T, Lendon CL et al (2003) Tau load is associated with apolipoprotein E genotype and the amount of amyloid beta protein, A beta(40), in sporadic and familial Alzheimer’s disease. Neuropathol Appl Neurobiol 29:35–44
Tyrrell J, Cosgrave M, McCarron M, McPherson J et al (2001) Dementia in people with Down’s syndrome. Int J Geriatr Psychiatry 16:1168–1174
Ungewickell EJ, Hinrichsen L (2007) Endocytosis: clathrin-mediated membrane budding. Curr Opin Cell Biol 19:417–425
Verkkoniemi A, Kalimo H, Paetau A, Somer M et al (2001) Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype. J Neuropathol Exp Neurol 60:483–492
Visscher PM, Brown MA, McCarthy MI, Yang J (2012) Five years of GWAS discovery. Am J Hum Genet 90:7–24
Vitale C, Romagnani C, Falco M, Ponte M et al (1999) Engagement of p75/AIRM1 or CD33 inhibits the proliferation of normal or leukemic myeloid cells. Proc Natl Acad Sci USA 96:15091–15096
von Gunten S, Bochner BS (2008) Basic and clinical immunology of Siglecs. Ann N Y Acad Sci 1143:61–82
Wakabayashi T, De Strooper B (2008) Presenilins: members of the gamma-secretase quartets, but part-time soloists too. Physiology (Bethesda) 23:194–204
Wang B, Yang W, Wen W, Sun J et al (2010) Gamma-secretase gene mutations in familial acne inversa. Science 330:1065
Wijsman EM, Daw EW, Yu XS, Steinbart EJ et al (2005) APOE and other loci affect age-at-onset in Alzheimer’s disease families with PS2 mutation. Am J Med Genet 132B:14–20
Wijsman EM, Pankratz ND, Choi Y, Rothstein JH et al (2011) Genome-wide association of familial late-onset Alzheimer’s disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE. PLoS Genet 7:e1001308
Wisiewski KE, Wisniewski HM, Wen GY (1985) Occurance of neuropathologic changes and dementia of Alzheimer’s disease in Down syndrome. Ann Neurol 17:278–282
Wollmer MA (2010) Cholesterol-related genes in Alzheimer’s disease. Biochim Biophys Acta 1801:762–773
Yamazaki T, Masuda J, Omori T, Usui R et al (2009) EphA1 interacts with integrin-linked kinase and regulates cell morphology and motility. J Cell Sci 122:243–255
Yeganeh MZ, Mirabzadeh A, Khorshid HRK, Kamali K et al (2010) Novel extreme homozygote haplotypes at the human Caveolin 1 gene upstream purine complex in sporadic Alzheimer’s disease. Am J Med Genet Part B 153B:347–349