Cited by 194Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchAmyotrophic Lateral Sclerosis Research

The DOI matches its Crossref record; 42 of the 42 references it cites were found in a registry or an index.

Apolipoprotein Eε4 modifies Alzheimer's disease onset in an E280A PS1 kindred

Pastor, Pau, Roe, Catherine M., Villegas, Andrés, Bedoya, Gabriel, Chakraverty, Sumi, García, Gloria, Tirado, Victoria, Norton, Joanne, Ríos, Silvia, Martínez, Maribel, Kosik, Kenneth S., Lopera, Francisco, Goate, Alison M.·2003·Annals of Neurology

DOI 10.1002/ana.10636

Open this paper in CoChat — free account

Abstract

We previously have identified a large kindred from Colombia in which Alzheimer's disease (AD) is caused by the E280A presenilin 1 (PS1) mutation. The objective of this study was to examine whether environmental and genetic factors are responsible for variation in the phenotypic expression of the E280A PS1 mutation. We genotyped coding and promoter polymorphisms of the APOE gene in carriers of the E280A PS1 mutation. Kaplan–Meier product‐limit and Cox proportional hazard models were used in the statistical analyses. DNA was available from 114 carriers of the E280A PS1 mutation, including 52 subjects with AD. APOE ε 4 allele carriers were more likely to develop AD at an earlier age than subjects without the ε 4 allele (hazard ratio, 2.07; 95% confidence interval, 1.07–3.99; p = 0.030). Subjects with low education were more likely to develop AD later than those with higher education (hazard ratio, 0.476; 95% confidence interval, 0.26–0.87). Low educational level was associated with rural residence (p < 0.001). Promoter APOE variants did not influence either the onset or the duration of the disease. This study is the first to our knowledge to demonstrate that genetic and environmental factors influence age of onset in a kindred with a familial AD mutation. Ann Neurol 2003

Integrity signals

Registry

Crossref · 10.1002/ana.10636

Cites

42 of 42 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Clinical diagnosis of Alzheimer's disease: Report of the NINCDS‐ADRDA Work Group* under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease
McKhann, G., Drachman, D., Folstein, M., Katzman, R., Price, D., & Stadlan, E. M. (1984) · Neurology · doi:10.1212/wnl.34.7.939 · Cited by 27,915
The Clinical Dementia Rating (CDR): Current version and scoring rules
Morris, J. C. (1993) · Neurology · doi:10.1212/wnl.43.11.2412-a · Cited by 9,882
The Consortium to Establish a Registry for Alzheimer's Disease (CERAD): Part II. Standardization of the neuropathologic assessment of Alzheimer's disease
Mirra, S. S., Heyman, A., McKeel, D., Sumi, S. M., Crain, B. J., Brownlee, L. M., Vogel, F. S., Hughes, J. P., Belle, G. V., Berg, L., et al. (1991) · Neurology · doi:10.1212/wnl.41.4.479 · Cited by 4,961
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
Goate, A., Chartier-Harlin, M.-C., Mullan, M., Brown, J., Crawford, F., Fidani, L., Giuffra, L., Haynes, A., Irving, N., James, L., et al. (1991) · Nature · doi:10.1038/349704a0 · Cited by 4,659
Self-citation
Statistical Models and Methods for Lifetime Data
Lawless, J. F. (2002) · Wiley series in probability and statistics · doi:10.1002/9781118033005 · Cited by 4,521
The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part I. Clinical and neuropsychological assesment of Alzheimer's disease
Moms, J. C., Heyman, A., Mohs, R. C., Hughes, J. P., van Belle, G., Fillenbaum, G., Mellits, E. D., & Clark, C. (1989) · Neurology · doi:10.1212/wnl.39.9.1159 · Cited by 4,130
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
Sherrington, R., Rogaev, E. I., Liang, Y., Rogaeva, E. A., Levesque, G., Ikeda, M., Chi, H., Lin, C., Li, G., Holman, K., et al. (1995) · Nature · doi:10.1038/375754a0 · Cited by 4,051
Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI.
Hixson, J., & Vernier, D. (1990) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)43176-1 · Cited by 2,933
Consortium to Establish a Registry for Alzheimer's Disease (CERAD)
Fillenbaum, G., & Heyman, A. (2002) · doi:10.1002/0470846410.ch42(iii · Cited by 2,859
Statistical Models and Methods for Lifetime Data.
Francis, B. J., & Lawless, J. F. (1983) · Biometrics · doi:10.2307/2531129 · Cited by 2,774

Flagged first, then by citations

Show all 42 references

Research works printed but not linked: 1

Cadavid‐Celis L, 2002, Finding of the largest common pedigree of Alzheimer disease families, J Int Neuropsychol Soc, 8

Sorted by citations

Items 101–194 of 194

Dietary Supplementation with Apple Juice Decreases Endogenous Amyloid-β Levels in Murine Brain
Chan, A., & Shea, T. B. (2009) · Journal of Alzheimer s Disease · doi:10.3233/jad-2009-0959 · Cited by 29
The rs1277306 Variant of the REST Gene Confers Susceptibility to Cognitive Aging in an Elderly Taiwanese Population
Lin, E., Tsai, S., Kuo, P., Liu, Y., Yang, A. C., Kao, C., & Yang, C. (2017) · Dementia and Geriatric Cognitive Disorders · doi:10.1159/000455833 · Cited by 28
Association of education with Aβ burden in preclinical familial and sporadic Alzheimer disease
Gonneaud, J., Bedetti, C., Binette, A. P., Benzinger, T. L. S., Morris, J. C., Bateman, R. J., Poirier, J., Breitner, J. C. S., & Villeneuve, S. (2020) · Neurology · doi:10.1212/wnl.0000000000010314 · Cited by 29
The Effect of APOE ε4 Allele on Cholinesterase Inhibitors in Patients With Alzheimer Disease
Wang, L. Y., Day, J. R., Roe, C. M., Brier, M. R., Thomas, J., Benzinger, T. L. S., Morris, J. C., & Ances, B. M. (2013) · Alzheimer Disease & Associated Disorders · doi:10.1097/wad.0b013e318299d096 · Cited by 28
Self-citation
Perspective on a pathogenesis and treatment of Alzheimer's disease
Roses, A. D., & Saunders, A. M. (2006) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2005.12.001 · Cited by 30
Sex differences in cognitive resilience in preclinical autosomal‐dominant Alzheimer's disease carriers and non‐carriers: Baseline findings from the API ADAD Colombia Trial
Vila‐Castelar, C., Tariot, P. N., Sink, K. M., Clayton, D., Langbaum, J. B. S., Thomas, R. G., Chen, Y., Su, Y., Chen, K., Hu, N., et al. (2022) · Alzheimer s & Dementia · doi:10.1002/alz.12552 · Cited by 27
Self-citation
Relative neuron loss in hippocampal sclerosis of aging and Alzheimer's disease
Ihara, R., Vincent, B. D., Baxter, M. R., Franklin, E. E., Hassenstab, J. J., Xiong, C., Morris, J. C., & Cairns, N. J. (2018) · Annals of Neurology · doi:10.1002/ana.25344 · Cited by 28
Dietary Supplementation With 3-Deaza Adenosine, N-Acetyl Cysteine, and S-Adenosyl Methionine Provide Neuroprotection Against Multiple Consequences of Vitamin Deficiency and Oxidative Challenge: Relevance to Age-Related Neurodegeneration
Tchantchou, F., Graves, M. V., Ortiz, D., Rogers, E. J., & Shea, T. B. (2004) · NeuroMolecular Medicine · doi:10.1385/nmm:6:2-3:093 · Cited by 27
The Role of the Innate Immune System in Alzheimer’s Disease and Frontotemporal Lobar Degeneration: An Eye on Microglia
Ridolfi, E., Barone, C., Scarpini, E. A., & Galimberti, D. (2013) · Clinical and Developmental Immunology · doi:10.1155/2013/939786 · Cited by 28
Autosomal dominant early onset Alzheimer's disease in the Mexican state of Jalisco: High frequency of the mutation PSEN1 c. 1292C >A and phenotypic profile of patients
Dumois‐Petersen, S., Gallegos‐Arreola, M. P., Magaña‐Torres, M. T., Perea, F. J., Ringman, J. M., & Figuera, L. E. (2020) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31865 · Cited by 26
Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer’s disease
Willumsen, N., Poole, T., Nicholas, J. M., Fox, N. C., Ryan, N. S., & Lashley, T. (2021) · Brain Pathology · doi:10.1111/bpa.13009 · Cited by 25
Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes
Schramm, C., Charbonnier, C., Zaréa, A., Lacour, M., Wallon, D., collaborators, C., Andriuta, D., Anthony, P., Auriacombe, S., Balageas, A., et al. (2022) · Genome Medicine · doi:10.1186/s13073-022-01070-6 · Cited by 28
The Effect of MAPT H1 and APOE ε4 on Transition from Mild Cognitive Impairment to Dementia
Samaranch, L., Cervantes, S., Barabash, A., Alonso, Á., Cabranes, J. A., Lamet, I., Ancín, I., Lorenzo, E., Martínez‐Lage, P., Marcos, A., et al. (2011) · Journal of Alzheimer s Disease · doi:10.3233/jad-2010-101011 · Cited by 27
Diagnostic accuracy of CERAD total score in a Colombian cohort with mild cognitive impairment and Alzheimer's disease affected by E280A mutation on presenilin-1 gene
Aguirre-Acevedo, D. C., Jaimes-Barragán, F., Henao, E., Tirado, V., Muñoz, C., Reiman, E. M., Tariot, P. N., Langbaum, J. B., & Lopera, F. (2016) · International Psychogeriatrics · doi:10.1017/s1041610215001660 · Cited by 25
Self-citation
Associations between APOE polymorphisms and seven diseases with cognitive impairment including Alzheimer’s disease, frontotemporal dementia, and dementia with Lewy bodies in southeast China
Chen, K., Sun, Y., Zhou, Y. F., Zhao, Q., Ding, D., & Guo, Q. (2016) · Psychiatric Genetics · doi:10.1097/ypg.0000000000000126 · Cited by 25
Genetics of dementia: insights from Latin America
Ramos, C., Aguillon, D. F., Cordano, C., & Lopera, F. J. (2020) · Dementia & Neuropsychologia · doi:10.1590/1980-57642020dn14-030004 · Cited by 26
Self-citation
AβPP A713T Mutation in Late Onset Alzheimer's Disease with Cerebrovascular Lesions
Bernardi, L., Geracitano, S., Colao, R., Puccio, G., Gallo, M., Anfossi, M., Frangipane, F., Curcio, S. A. M., Mirabelli, M., Tomaino, C., et al. (2009) · Journal of Alzheimer s Disease · doi:10.3233/jad-2009-1061 · Cited by 25
Molecular Genetics of Alzheimer's Disease
Verdile, G., & Martin, R. (2008) · Nucleic acids and molecular biology · doi:10.1007/978-3-540-85383-1_8 · Cited by 25
Baseline levels and longitudinal changes in plasma Aβ42/40 among Black and white individuals
Xiong, C., Luo, J. R., Wolk, D. A., Shaw, L. M. J., Roberson, E. D., Murchison, C., Henson, R. L., Benzinger, T. L. S., Bui, Q. V. P., Agboola, F., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-49859-w · Cited by 24
Education and Reported Onset of Symptoms Among Individuals With Alzheimer Disease
Roe, C. M., Xiong, C., Grant, E., Miller, J. P., & Morris, J. C. (2008) · Archives of Neurology · doi:10.1001/archneurol.2007.11 · Cited by 23
Self-citation
Exploratory data from complete genomes of familial alzheimer disease age-at-onset outliers
Lalli, M. A., Garcia, G., Madrigal, L., Arcos-Burgos, M., Arcila, M. L., Kosik, K. S., & Lopera, F. (2012) · Human Mutation · doi:10.1002/humu.22167 · Cited by 19
Self-citation
RETRACTED ARTICLE: Exploring the Role of CLU in the Pathogenesis of Alzheimer’s Disease
Uddin, M. S., Kabir, M. T., Begum, M. M., Islam, M. S., Behl, T., & Ashraf, G. M. (2020) · Neurotoxicity Research · doi:10.1007/s12640-020-00271-4 · Cited by 22
Retracted
Genetic associations with age at dementia onset in the PSEN1 E280A Colombian kindred
Cochran, J. N., Acosta‐Uribe, J., Esposito, B. T., Madrigal, L., Aguillón, D., Giraldo, M. M., Taylor, J. W., Bradley, J., Fulton‐Howard, B., Andrews, S. J., et al. (2023) · Alzheimer's & Dementia · doi:10.1002/alz.13021 · Cited by 21
Self-citation
Familial Presenilin Mutations and Sporadic Alzheimer’s Disease Pathology: Is the Assumption of Biochemical Equivalence Justified?
Roher, A. E., Maarouf, C. L., & Kokjohn, T. A. (2016) · Journal of Alzheimer s Disease · doi:10.3233/jad-150757 · Cited by 22
Alzheimer's disease: Genetic evidence points to a single pathogenesis
Hardy, J. (2003) · Annals of Neurology · doi:10.1002/ana.10624 · Cited by 19
Family‐based genome scan for age at onset of late‐onset Alzheimer's disease in whole exome sequencing data
Saad, M., Brkanac, Z., & Wijsman, E. M. (2015) · Genes Brain & Behavior · doi:10.1111/gbb.12250 · Cited by 19
Advances in Genetic and Molecular Understanding of Alzheimer’s Disease
Ibáñez, L., Cruchaga, C., & Fernández, M. V. (2021) · Genes · doi:10.3390/genes12081247 · Cited by 20
Alzheimer's disease and related dementias
Hardy, J. (2012) · Cambridge University Press eBooks · doi:10.1017/cbo9781139087711.003 · Cited by 18
Génétique de la maladie d’Alzheimer : formes autosomiques dominantes
Guyant‐Maréchal, L., Campion, D., & Hannequin, D. (2008) · Revue Neurologique · doi:10.1016/j.neurol.2008.10.019 · Cited by 20
The Pathological Cross Talk Between Apolipoprotein E and Amyloid-β Peptide in Alzheimer's Disease: Emerging Gene-Based Therapeutic Approaches
Iurescia, S., Fioretti, D. P., Mangialasche, F., & Rinaldi, M. (2010) · Journal of Alzheimer s Disease · doi:10.3233/jad-2010-100009 · Cited by 18
Genetics in Degenerative Dementia
Bruni, A. C., Conidi, M. E., & Bernardi, L. (2014) · Alzheimer Disease & Associated Disorders · doi:10.1097/wad.0000000000000046 · Cited by 15
Genetic Complexity of Early-Onset Alzheimer’s Disease
Ghani, M., Reitz, C., George‐Hyslop, P. S., & Rogaeva, E. A. (2018) · Springer eBooks · doi:10.1007/978-3-319-72938-1_3 · Cited by 15
Role of A β Transport and Clearance in the Pathogenesis and Treatment of Alzheimer’s Disease
Holtzman, D. M., & Zloković, B. V. (2007) · Springer eBooks · doi:10.1007/978-0-387-35135-3_11 · Cited by 15
Sex-related differences in genetically determined Alzheimer’s disease
Soriano, L. D. H., Wagemann, O., Bejanin, A., Levin, J., & Fortea, J. (2025) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2025.1522434 · Cited by 16
Variants regulating ZBTB4 are associated with age‐at‐onset of Alzheimer's disease
Blue, E., Yu, C., Thornton, T. A., Chapman, N. H., Kernfeld, E. M., Jiang, N., Shively, K. M., Buckingham, K. J., Marvin, C. T., Bamshad, M. J., et al. (2017) · Genes Brain & Behavior · doi:10.1111/gbb.12429 · Cited by 12
Role of TOMM40 rs10524523 Polymorphism in Onset of Alzheimer's Disease Caused by the PSEN1 M146L Mutation
Bernardi, L., Gallo, M., Anfossi, M., Conidi, M. E., Colao, R., Puccio, G., Curcio, S. A. M., Frangipane, F., Clodomiro, A., Mirabelli, M., et al. (2013) · Journal of Alzheimer s Disease · doi:10.3233/jad-130119 · Cited by 13
Clinical Phenotype and Mutation Spectrum of Alzheimer’s Disease with Causative Genetic Mutation in a Chinese Cohort
Mao, C., Li, J., Dong, L., Huang, X., Lei, D., Wang, J., Chu, S., Liu, C., Peng, B., Román, G. C., et al. (2021) · Current Alzheimer Research · doi:10.2174/1567205018666210608120339 · Cited by 12
Linkage analysis of multiplex Caribbean Hispanic families loaded for unexplained early‐onset cases identifies novel Alzheimer's disease loci
Cheng, R., Tang, M., Martinez, I. M., Ayodele, T., Baez, P., Reyes‐Dumeyer, D., Lantigua, R., Medrano, M. Z., Jiménez‐Velázquez, I. Z., Lee, J. H., et al. (2018) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1016/j.dadm.2018.07.007 · Cited by 11
Understanding familial Alzheimer's disease: The fit‐stay‐trim mechanism of γ‐secretase
Mehra, R., & Kepp, K. P. (2021) · Wiley Interdisciplinary Reviews Computational Molecular Science · doi:10.1002/wcms.1556 · Cited by 11
Identification of the PS1 Thr147Ile Variant in a Family with Very Early Onset Dementia and Expressive Aphasia
Denvir, J., Neitch, S. M., Fan, J., Niles, R. M., Bošković, G., Schreurs, B. G., Primerano, D. A., & Alkon, D. L. (2015) · Journal of Alzheimer s Disease · doi:10.3233/jad-150051 · Cited by 11
Early Depressive Symptoms Predict Faster Dementia Progression in Autosomal-Dominant Alzheimer’s Disease
Acosta‐Baena, N., Gómez, C. M. L., Elorza, M. C. J., Velilla-Jiménez, L. M., Villegas‐Lanau, C. A., Falla, D. S., Arcos‐Burgos, M., & Lopera, F. J. (2023) · Journal of Alzheimer s Disease · doi:10.3233/jad-221294 · Cited by 11
Self-citation
Targeting Neuroplasticity, Cardiovascular, and Cognitive-Associated Genomic Variants in Familial Alzheimer’s Disease
Velez, J. I., Lopera, F. J., Creagh, P. K., Piñeros-Hernández, L. B., Das, D., Cervantes-Henríquez, M. L., Acosta-López, J. E., Isaza-Ruget, M. A., Espinosa, L. G., Easteal, S., et al. (2018) · Molecular Neurobiology · doi:10.1007/s12035-018-1298-z · Cited by 12
Self-citation
Tau immunotherapy in Alzheimer’s disease and progressive supranuclear palsy
Karimi, N., Catak, F. B., Arslan, E. O., Saghazadeh, A., & Rezaei, N. (2022) · International Immunopharmacology · doi:10.1016/j.intimp.2022.109445 · Cited by 11
APOE ε4 influences cognitive decline positively in APP and negatively in PSEN1 mutation carriers with autosomal‐dominant Alzheimer's disease
Almkvist, O., Johansson, C., Laffita‐Mesa, J. M., Þórðardóttir, S., & Graff, C. (2022) · European Journal of Neurology · doi:10.1111/ene.15536 · Cited by 9
The Genetics of Common Diseases: 10 Million Times as HardPreprint
Goldstein, D. B., Cavalleri, G. L., & Ahmadi, K. R. (2003) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.2003.68.395 · Cited by 10
Impact of APOE ε4 and ε2 on plasma neurofilament light chain and cognition in autosomal dominant Alzheimer’s disease
Langella, S., Bonta, K., Chen, Y., Su, Y., Vásquez, D., Aguillon, D. F., Acosta‐Baena, N., Baena, A. Y., Garcia‐Ospina, G., Giraldo, M., et al. (2024) · Alzheimer s Research & Therapy · doi:10.1186/s13195-024-01572-y · Cited by 9
Self-citation
Alzheimer's disease-like features in resting state EEG/fMRI of cognitively intact and healthy middle-aged APOE / PICALM risk carriers
Dzianok, P., Wojciechowski, J., Wolak, T. P., & Kublik, E. (2025) · Journal of Alzheimer s Disease · doi:10.1177/13872877251317489 · Cited by 9
Plasma Aβ42/Aβ40 Ratios in Older People With Human Immunodeficiency Virus
Cooley, S., Nelson, B., Boerwinkle, A. H., Yarasheski, K. E., Kirmess, K. M., Meyer, M. R., Schindler, S. E., Morris, J. C., Fagan, A. M., Ances, B. M., et al. (2023) · Clinical Infectious Diseases · doi:10.1093/cid/ciad001 · Cited by 9
Relationship between Urinary Alzheimer-Associated Neuronal Thread Protein and Apolipoprotein Epsilon 4 Allele in the Cognitively Normal Population
Li, Y., Kang, M., Sheng, C., Chen, G., Li, T., Wang, J., Cai, Y., Wang, R., & Han, Y. (2020) · Neural Plasticity · doi:10.1155/2020/9742138 · Cited by 9
Lessons from genetic studies in Alzheimer disease
Nicolas, G. (2024) · Revue Neurologique · doi:10.1016/j.neurol.2023.12.006 · Cited by 9
Alzheimer's Prevention Initiative
Strobel, G. (2010) · Journal of Alzheimer s Disease · doi:10.3233/jad-2010-101429 · Cited by 8
Panel of Genetic Variations as a Potential Non-invasive Biomarker for Early Diagnosis of Alzheimer's Disease
Ma, S. L., & LAM, L. C. W. (2011) · Clinical Psychopharmacology and Neuroscience · doi:10.9758/cpn.2011.9.2.54 · Cited by 8
Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease
Muchnik, C., Olivar, N., Dalmasso, M. C., Azurmendi, P. J., Liberczuk, C., Morelli, L., & Brusco, L. I. (2015) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2015.06.011 · Cited by 8
Estimation and Visualization of Identity-by-Descent within Pedigrees Simplifies Interpretation of Complex Trait Analysis
Blue, E., & Wijsman, E. M. (2011) · Human Heredity · doi:10.1159/000334083 · Cited by 8
New APOE-related therapeutic options for Alzheimer’s disease
Li, Z. (2019) · AIP conference proceedings · doi:10.1063/1.5085515 · Cited by 8
Genetic variants in PSEN2 and correlation to CSF β-amyloid42 levels in AD
Lebedeva, E. R., Stingl, J., Thal, D. R., Ghebremedhin, E., Strauss, J., Özer, E., Bertram, L., von Einem, B., Tumani, H., Otto, M., et al. (2010) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2010.07.017 · Cited by 7
Targeting apolipoprotein E for treating Alzheimer’s disease
Bales, K. R., & Paul, S. M. (2019) · Neuroscience Letters · doi:10.1016/j.neulet.2019.134366 · Cited by 7
Apolipoprotein E3 as a Risk Factor for Alzheimer's Disease Under Conditions of Nutritional Imbalance
Chan, A., & Shea, T. B. (2010) · Journal of Alzheimer s Disease · doi:10.3233/jad-2010-100060 · Cited by 5
Protection against Alzheimer’s Disease with APOE Christchurch Variant — How?
Hardy, J. (2024) · New England Journal of Medicine · doi:10.1056/nejme2403712 · Cited by 5
Whole Exome Sequencing Reveals a Novel APOE Mutation in a Patient With Sporadic Early-Onset Alzheimer's Disease
Bagaria, J., Moon, Y., Bagyinszky, E., Shim, K. H., An, S. S. A., Kim, S., & Han, S. H. (2022) · Frontiers in Neurology · doi:10.3389/fneur.2022.899644 · Cited by 4
Familial cerebral amyloid disorders with prominent white matter involvement
Banerjee, G., Schott, J. M., & Ryan, N. S. (2024) · Handbook of clinical neurology · doi:10.1016/b978-0-323-99209-1.00010-7 · Cited by 3
Association between risk polymorphisms for neurodegenerative diseases and cognition in colombian patients with frontotemporal dementia
López, A., Sanabria, F. C., Mayorga, P., Sanchez, A. I., González-Nieves, S., Ayala‐Ramírez, P., Zarante, I., & Matallana, D. (2022) · Frontiers in Neurology · doi:10.3389/fneur.2022.675301 · Cited by 3
Data Platform for the Research and Prevention of Alzheimer’s Disease
An, N., Jin, L., Yang, J., Yin, Y., Jiang, S., Jing, B., & Au, R. (2017) · Advances in experimental medicine and biology · doi:10.1007/978-981-10-6041-0_4 · Cited by 2
Age of onset predicted by Aβ profiling in a novel PSEN1 (I180F) mutation
Robbie, L., Fernández, S. G., Montoya, L., Sagare, A. P., Barrera, L., Sheikh‐Bahaei, N., Gutiérrez, L. C., & Ringman, J. M. (2023) · Neuroscience Letters · doi:10.1016/j.neulet.2023.137591 · Cited by 2
A Clinical Case of Patient Carrying Rare Pathological PSEN1 Gene Mutation (L424V) Demonstrates the Phenotypic Heterogenity of Early Onset Familial AD
Stoychev, K., Stoimenova-Popova, M. Y., Chumpalova, P. G., Ilieva, L., Swamad, M., & Kamburova-Martinova, Z. (2019) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2019.00857 · Cited by 2
Effect of aldehyde dehydrogenase and alcohol dehydrogenase inhibitors and ethanol on blood and liver ketone bodies in the rat.
Pronko, P. S., Zimatkin, S. M., & Kuz'mich, A. B. (1994) · PubMed · Cited by 2
CSF tau phosphorylation at T217 and T205 are improved biomarkers of amyloid and tau pathology in Alzheimer diseasePreprint
Barthélemy, N. R., Saef, B. A., Li, Y., Gordon, B. A., He, Y., Horie, K., Stomrud, E., Salvadó, G., Janelidze, S., Sato, C., et al. (2022) · Research Square · doi:10.21203/rs.3.rs-2175929/v1 · Cited by 2
DAOA and APOEε4 as Modifiers of Age of Onset in Autosomal-Dominant Early-Onset Alzheimer’s Disease Caused by the PSEN1 A431E Variant
Valdez-Gaxiola, C. A., Rosales-Leycegui, F., Gaxiola-Rubio, A., Dumois‐Petersen, S., Gallegos‐Arreola, M. P., Ringman, J. M., & Figuera, L. E. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26167929 · Cited by 1
APOE and genetic risk variants influence Alzheimer's disease onset in carriers of an extra copy of APP , with and without Down syndrome
Groeneveld, J., Perlaza, D., Olivé, C., Grangeon, L., Tesi, N., Nicolas, A., Jiang, C., de Rojas, I., Wallon, D., Rousseau, S., et al. (2026) · Alzheimer s & Dementia · doi:10.1002/alz.71738 · Cited by 1
Self-citation
Alzheimer's disease
Cruchaga, C., Kauwe, J. S. K., & Goate, A. (2012) · Cambridge University Press eBooks · doi:10.1017/cbo9781139025997.032 · Cited by 1
Self-citation
Lack of ApoE inhibits ADan amyloidosis in a mouse model of familial Danish dementia
Fernández, A., Gomez, M.-T., & Vidal, R. (2022) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2022.102751 · Cited by 1
Los linfocitos: modelo de estudio en las enfermedades de Alzheimer y Parkinson
Jiménez-Del-Río, M., & Pardo, C. V. (2006) · IATREIA · doi:10.17533/udea.iatreia.4262 · Cited by 1
Penetrance estimation of SORL1 loss-of-function variants using a family-based strategy adjusted on APOE genotypes suggest a non-monogenic inheritance
Schramm, C., Charbonnier, C., Zaréa, A., Lacour, M., Wallon, D., collaborators, C., Boland, A., Deleuze, J.-F., Olaso, R., Alarcon, F., et al. (2021) · doi:10.1101/2021.06.30.450554 · Cited by 1
Alzheimer's Disease Investigated via Gene-Environment Interactions, Biochemical Pathways, Cellular Processes, and Disease Phenotype VariabilityPreprint
Shafi, V., & Siddiqui, I. (2024) · Research Square · doi:10.21203/rs.3.rs-4408464/v1 · Cited by 1
Early Onset Familial Alzheimer's Disease: Is a Mutation Predictive of Pathology?
Galasko, D. R. (2005) · Research and perspectives in Alzheimer's disease · doi:10.1007/3-540-26522-8_5 · Cited by 1
Identification of Genes that Modify the Age of Onset in a Large Familial Alzheimer's Disease Kindred
Goate, A., Pástor, P., Roe, C. M., Norton, J. B., Chakraverty, S., Lopera, F. J., & Kosik, K. S. (2005) · Research and perspectives in Alzheimer's disease · doi:10.1007/3-540-26522-8_6
Self-citation
The Role of Apolipoprotein E Concentration and Isoform in Amyloid-beta Metabolism In Vivo
Castellano, J. M. (2011) · Open Scholarship Institutional Repository (Washington University in St. Louis) · doi:10.7936/k7416v3s
Binding information in short-term memory: evidence from healthy individuals, Alzheimer's Disease and other clinical populations
Parra, M. A. (2009) · OpenGrey (Institut de l'Information Scientifique et Technique)
Differential Simple Spike Activity in Alert Mice
Zhou, H. (2014) · EUR Research Repository (Erasmus University Rotterdam)
Amyloid precursor protein with the Alzheimer´s disease 670/671 mutation : Animal and cellular models
Kloskowska, E. (2008) · Figshare
Towards a Molecular Classification of Neurodegenerative Disease
Hardy, J. (2005) · Research and perspectives in Alzheimer's disease · doi:10.1007/3-540-26522-8_2
Industrial waste disposal, river--pollution problems and solutions.
Bopardikar, M. V., & Lakshminarayana, J. S. S. (1968) · PubMed
Alzheimer´s disease and apolipoprotein E.A prospective, population-based molecular genetic and neuropathological study of individuals aged 85 years or more
Polvikoski, T. M. (2004) · Työväentutkimus Vuosikirja
Hétérogénéité génétique de la maladie d’Alzheimer : des mutations causales aux facteurs de risque génétiques rares et fréquents
Nicolas, G., & Wallon, D. (2017) · Pratique Neurologique - FMC · doi:10.1016/j.praneu.2017.01.020
Modelling of ischemic stroke : focus on co-morbidities and therapeutic intervention
Dhungana, H. (2014) · UEF eRepo (University of Eastern Finland)
N-truncated Aβ4-x peptides in Alzheimer's disease: generation, degradation, and relationship with neuropathological hallmarks
Zampar, S. (2021) · eDiss (Georg-August-Universität Göttingen) · doi:10.53846/goediss-9004
Current awareness in geriatric psychiatry
(2003) · International Journal of Geriatric Psychiatry · doi:10.1002/gps.794
Rare APOE p.Gly4Glu: A putative disease-causing variant for early-onset Alzheimer’s disease identified by next-generation sequencing
Wu, C.-T., Hu, L.-H., Weng, H., Liu, Y.-M., Lin, Y., Tsai, S., Lo, R. Y., & Ching, Y.-H. (2025) · Tzu Chi Medical Journal · doi:10.4103/tcmj.tcmj_117_24
In vivo inhibition of stearoyl-CoA desaturase modulates the hippocampal fatty acid profile and restores density of dendritic spines in the aggressive 5xFAD model of Alzheimer’s diseasePreprint
Turri, M., Aubin, M., Aumont, A., Vachon, A., Lopez, J. A., Mayhue, M., Plourde, M., & Fernandes, K. J. L. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.08.27.672447
Phenotypic variability in early-onset dementia segregating with a novel APP (p.I718M) variant
Johansson, C., Rodriguez‐Vieitez, E., Blūma, M., Nennesmo, I., Thonberg, H., Ullgren, A., Jelić, V., Zetterberg, H., Blennow, K., Nordberg, A. K., et al. (2025) · Alzheimer s Research & Therapy · doi:10.1186/s13195-025-01890-9
Additional file 1 of Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes
Schramm, C., Charbonnier, C., Zaréa, A., Lacour, M., Wallon, D., Boland, A., Deleuze, J., Olaso, R., Alarcon, F., Campion, D., et al. (2022) · Figshare · doi:10.6084/m9.figshare.20168234
Transmission of Alzheimer pathology in murine and primate models : from proteinopathies to neuronal and cognitive impairments
Lam, S. (2021) · theses.fr (ABES) · doi:10.70675/60b353ffz56fcz41a2z9e53zf0d9ac078167 · Cited by 1
Toward personalized medicine in AD/ADRD through genetic-exposome dementia risk assessments
Tolosa‐Tort, P., Okorie, M., Chatterjee, A., Boeriu, A. I., Sharma, R. U., & Andrews, S. J. (2026) · npj Dementia · doi:10.1038/s44400-026-00087-7
Social Determinants and Brain Health in PSEN1 E280A Carriers vs Non-Carriers: A Colombian Cohort
Tumbajoy-Arango, C. V., Trujillo, N., Sanchez, J. P., González, D. C. D., Valencia, S. M., Trujillo, S., & Gómez, D. (2026) · American Journal of Alzheimer s Disease & Other Dementias® · doi:10.1177/15333175261492405

Authors: 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.
Affiliations: Washington University in St. Louis (US)
Universidad de Antioquia (CO)
Brigham and Women's Hospital (US)
Corresponding author: Goate, Alison M.
ORCID: Roe, Catherine M.
Villegas, Andrés
Bedoya, Gabriel
Kosik, Kenneth S.
Lopera, Francisco
Goate, Alison M.
Venue: Annals of Neurology
Publisher: Wiley
Published: 2003-07-25
Volume: 54
Issue: 2
Pages: 163-169
ISSN: 0364-5134 (ISSN-L)
1531-8249
DOI: 10.1002/ana.10636
OpenAlex: W2056614031
Cited by: 194
References: 42
Citations by year: 2026: 3 · 2025: 7 · 2024: 7 · 2023: 7 · 2022: 12 · 2021: 11 · 2020: 12 · 2019: 10 · 2018: 7 · 2017: 7 · 2016: 11 · 2015: 10 · 2014: 9 · 2013: 6 · 2012: 8
FWCI: 4.23
Type: journal article
Language: en
Open access: closed
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations: Annals of Neurology (publishedVersion)
PubMed (publishedVersion)
Funders: COLCIENCIAS (115-04-007-99; F.L.)
NIA (P50 AG05681 A.M.G C.M.R., P01 AG03991)
Topics: Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
Keywords: Alzheimer's disease, presenilin 1, APOE ε4, age of onset, familial Alzheimer's disease, APOE promoter polymorphisms, educational attainment, rural residence, genetic and environmental risk factors
MeSH terms: Adult, Aged, Aged, 80 and over, Alleles, Alzheimer Disease, Apolipoproteins E, Colombia, DNA, Education, Environment, Female, Heterozygote, Humans, Male, Membrane Proteins, Middle Aged, Mutation, Pedigree, Phenotype, Polymorphism, Genetic, Promoter Regions, Genetic, Rural Population, Survival Analysis, Age of Onset, Apolipoprotein E4, Presenilin-1

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Apolipoprotein Eε4 modifies Alzheimer's disease onset in an E280A PS1 kindred

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks