Hétérogénéité génétique de la maladie d’Alzheimer : des mutations causales aux facteurs de risque génétiques rares et fréquents

Hyman, 2012, National Institute on Aging-Alzheimer“s Association guidelines for the neuropathologic assessment of Alzheimer”s disease, Alzheimers Dement, 8, 1, 10.1016/j.jalz.2011.10.007 Gatz, 2006, Role of genes and environments for explaining Alzheimer disease, Arch Gen Psychiatry, 63, 168, 10.1001/archpsyc.63.2.168 Schellenberg, 1987, Association of an apolipoprotein CII allele with familial dementia of the Alzheimer type, J Neurogenet, 4, 97, 10.3109/01677068709167221 Pericak-Vance, 1991, Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage, Am J Hum Genet, 48, 1034 Grupe, 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, 10.1093/hmg/ddm031 Lambert, 2009, Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease, Nat Genet, 41, 1094, 10.1038/ng.439 Seshadri, 2010, Genome-wide analysis of genetic loci associated with Alzheimer disease, JAMA, 303, 1832, 10.1001/jama.2010.574 Lambert, 2013, Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease, Nat Genet, 45, 1452, 10.1038/ng.2802 Lek, 2016, Analysis of protein-coding genetic variation in 60,706 humans, Nature, 536, 285, 10.1038/nature19057 Wallon, 2012, The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers, J Alzheimers Dis, 30, 847, 10.3233/JAD-2012-120172 Goate, 1991, Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease, Nature, 349, 704, 10.1038/349704a0 Levy, 1990, Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage. Dutch type, Science, 248, 1124, 10.1126/science.2111584 Van Broeckhoven, 1990, Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch), Science, 248, 1120, 10.1126/science.1971458 Rovelet-Lecrux, 2006, APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy, Nat Genet, 38, 24, 10.1038/ng1718 Lanoiselée H-M, Nicolas G, Wallon D, Lacour M, Rovelet-Lecrux A, Rousseau S, et al. High frequency of de novo mutations in 188 early-onset Alzheimer disease families with mutations in the APP, PSEN1 and PSEN2 genes. 1–36 [soumis]. Ryan, 2016, Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series, Lancet Neurol, 15, 1326, 10.1016/S1474-4422(16)30193-4 Jayadev, 2010, Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2, Brain, 133, 1143, 10.1093/brain/awq033 Tang, 2016, Neurological manifestations of autosomal dominant familial Alzheimer's disease: a comparison of the published literature with the Dominantly Inherited Alzheimer Network observational study (DIAN-OBS), Lancet Neurol, 15, 1317, 10.1016/S1474-4422(16)30229-0 Zarea, 2016, Seizures in dominantly inherited Alzheimer disease, Neurology, 87, 912, 10.1212/WNL.0000000000003048 Dumanchin, 1998, De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group, J Med Genet, 35, 672, 10.1136/jmg.35.8.672 Portet, 2003, Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu), Neurology, 61, 1136, 10.1212/01.WNL.0000086811.39675.79 Golan, 2007, Early-onset Alzheimer's disease with a de novo mutation in the presenilin 1 gene, Exp Neurol, 208, 264, 10.1016/j.expneurol.2007.08.016 Rovelet-Lecrux, 2015, De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease, Mol Psychiatry, 20, 1046, 10.1038/mp.2015.100 Nicolas, 2016, Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons, Eur J Hum Genet, 24, 710, 10.1038/ejhg.2015.173 Strittmatter, 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, 10.1073/pnas.90.5.1977 Saunders, 1993, Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease, Neurology, 43, 1467, 10.1212/WNL.43.8.1467 Strittmatter, 1996, Apolipoprotein E and Alzheimer's disease, Annu Rev Neurosci, 19, 53, 10.1146/annurev.ne.19.030196.000413 Genin, 2011, APOE and Alzheimer disease: a major gene with semi-dominant inheritance, Mol Psychiatry, 16, 903, 10.1038/mp.2011.52 Martinez, 1998, Apolipoprotein E epsilon4 allele and familial aggregation of Alzheimer disease, Arch Neurol, 55, 810, 10.1001/archneur.55.6.810 Pastor, 2003, Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred, Ann Neurol, 54, 163, 10.1002/ana.10636 Corder, 1994, Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease, Nat Genet, 7, 180, 10.1038/ng0694-180 Liu, 2013, Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy, Nat Rev Neurol, 9, 106, 10.1038/nrneurol.2012.263 Karch, 2015, Alzheimer's disease risk genes and mechanisms of disease pathogenesis, Biol Psychiatry, 77, 43, 10.1016/j.biopsych.2014.05.006 Van Cauwenberghe, 2016, The genetic landscape of Alzheimer disease: clinical implications and perspectives, Genet Med, 18, 421, 10.1038/gim.2015.117 Jonsson, 2012, A mutation in APP protects against Alzheimer's disease and age-related cognitive decline, Nature, 488, 96, 10.1038/nature11283 Jonsson, 2013, Variant of TREM2 associated with the risk of Alzheimer's disease, N Engl J Med, 368, 107, 10.1056/NEJMoa1211103 Guerreiro, 2013, TREM2 variants in Alzheimer's disease, N Engl J Med, 368, 117, 10.1056/NEJMoa1211851 Pottier, 2013, TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease, J Alzheimers Dis, 35, 45, 10.3233/JAD-122311 Guerreiro, 2013, Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement, JAMA Neurol, 70, 78, 10.1001/jamaneurol.2013.579 Cuyvers, 2014, Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia, Neurobiol Aging, 35, 726e11, 10.1016/j.neurobiolaging.2013.09.009 Yeh, 2016, TREM2 binds to apolipoproteins, including APOE and CLU/APOJ, and Thereby facilitates uptake of amyloid-beta by microglia, Neuron, 91, 328, 10.1016/j.neuron.2016.06.015 Pottier, 2012, High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease, Mol Psychiatry, 17, 875, 10.1038/mp.2012.15 Nicolas, 2016, SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease, Mol Psychiatry, 21, 831, 10.1038/mp.2015.121 Verheijen, 2016, A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease, Acta Neuropathol, 132, 213, 10.1007/s00401-016-1566-9 Vardarajan, 2015, Coding mutations in SORL1 and Alzheimer disease, Ann Neurol, 77, 215, 10.1002/ana.24305 Rogaeva, 2007, The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease, Nat Genet, 39, 168, 10.1038/ng1943 Caglayan, 2012, Identification of Alzheimer disease risk genotype that predicts efficiency of SORL1 expression in the brain, Arch Neurol, 69, 373, 10.1001/archneurol.2011.788 Caglayan, 2014, Lysosomal sorting of amyloid-β by the SORLA receptor is impaired by a familial Alzheimer's disease mutation, Sci Transl Med, 6, 223ra20, 10.1126/scitranslmed.3007747 Steinberg, 2015, Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease, Nat Genet, 47, 445, 10.1038/ng.3246 Cuyvers, 2015, Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study, Lancet Neurol, 14, 814, 10.1016/S1474-4422(15)00133-7 Le Guennec, 2016, ABCA7 rare variants and Alzheimer disease risk, Neurology, 86, 2134, 10.1212/WNL.0000000000002627 Chan, 2008, ATP-binding cassette transporter A7 regulates processing of amyloid precursor protein in vitro, J Neurochem, 106, 793, 10.1111/j.1471-4159.2008.05433.x Meurs, 2012, Effects of deletion of macrophage ABCA7 on lipid metabolism and the development of atherosclerosis in the presence and absence of ABCA1, Plos One, 7, e30984, 10.1371/journal.pone.0030984 Kim, 2013, Deletion of Abca7 increases cerebral amyloid-β accumulation in the J20 mouse model of Alzheimer's disease, J Neurosci, 33, 4387, 10.1523/JNEUROSCI.4165-12.2013 Kim, 2008, Role of ATP-binding cassette transporters in brain lipid transport and neurological disease, J Neurochem, 104, 1145, 10.1111/j.1471-4159.2007.05099.x Satoh, 2015, ATP-binding cassette transporter A7 (ABCA7) loss of function alters Alzheimer amyloid processing, J Biol Chem, 290, 24152, 10.1074/jbc.M115.655076 Cruchaga, 2014, Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease, Nature, 505, 550, 10.1038/nature12825 Wetzel-Smith, 2014, A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death, Nat Med, 20, 1452, 10.1038/nm.3736 Logue, 2014, Two rare AKAP9 variants are associated with Alzheimer's disease in African Americans, Alzheimers Dement, 10, 609, 10.1016/j.jalz.2014.06.010 Schulte, 2015, Excess of rare coding variants in PLD3 in late but not early-onset Alzheimer's disease, Hum Genome Var, 2, 1402, 10.1038/hgv.2014.28 Jiao, 2014, Investigation of TREM2, PLD3, and UNC5C variants in patients with Alzheimer's disease from mainland China, Neurobiol Aging, 35, 2422e9, 10.1016/j.neurobiolaging.2014.04.025 Bateman, 2016, The DIAN-TU Next Generation Alzheimer's prevention trial: adaptive design and disease progression model, Alzheimers Dement, 13, 8, 10.1016/j.jalz.2016.07.005 Reiman, 2011, Alzheimer's prevention initiative: a plan to accelerate the evaluation of presymptomatic treatments, J Alzheimers Dis, 26, 321, 10.3233/JAD-2011-0059 Korvatska, 2015, R47H variant of TREM2 associated with Alzheimer disease in a large late-onset family: clinical, genetic, and neuropathological study, JAMA Neurol, 72, 920, 10.1001/jamaneurol.2015.0979