Autosomal Recessive Causes Likely in Early-Onset Alzheimer Disease

Wingo, Thomas S.

doi:10.1001/archneurol.2011.221

Cited by 265Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchGenetic Associations and Epidemiology

Autosomal Recessive Causes Likely in Early-Onset Alzheimer Disease

Open access

Wingo, Thomas S.·2012·Archives of Neurology

DOI 10.1001/archneurol.2011.221PMC PMC3332307

Open this paper in CoChat — free account

Abstract

OBJECTIVES: To determine the genetic contribution to non-autosomal dominant early-onset Alzheimer disease (EOAD) (onset age ≤60 years) cases and identify the likely mechanism of inheritance in those cases. DESIGN: A liability threshold model of disease was used to estimate heritability of EOAD and late-onset Alzheimer disease (AD) using concordance for AD among parent-offspring pairs. SETTING: The Uniform Data Set, whose participants were collected from 32 US Alzheimer's Disease Centers, maintained by the National Alzheimer's Coordinating Center. PARTICIPANTS: Individuals with probable AD and detailed parental history (n = 5370). MAIN OUTCOME MEASURES: The concordance among relatives and heritability of EOAD and late-onset AD. RESULTS: For late-onset AD (n = 4302), we found sex-specific parent-offspring concordance that ranged from approximately 10% to 30%, resulting in a heritability of 69.8% (95% confidence interval, 64.6%-75.0%), and equal heritability for both sexes regardless of parental sex. For EOAD (n = 702), we found that the parent-offspring concordance was 10% or less and concordance among siblings was 21.6%. Early-onset AD heritability was 92% to 100% for all likely values of EOAD prevalence. CONCLUSIONS: We confirm late-onset AD is a highly polygenic disease. By contrast, the data for EOAD suggest it is an almost entirely genetically based disease, and the patterns of observed concordance for parent-offspring pairs and among siblings lead us to reject the hypotheses that EOAD is a purely dominant, mitochondrial, X-linked, or polygenic disorder. The most likely explanation of the data is that approximately 90% of EOAD cases are due to autosomal recessive causes.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1001/archneurol.2011.221

Cites

40 of 40 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

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?

Estimates of heritability for early-onset Alzheimer's disease (EOAD) are as high as 90-100%.
“Estimates of heritability for EOAD are as high as 90–100% [24]”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [24]
It has been estimated that up to 90% of EOAD may be caused by recessive mutations.
“it has been estimated that up to 90% of EOAD may be caused by recessive mutations [24]”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [24]

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

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 · see citing works
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. L., & Stadlan, E. (2011) · Neurology · doi:10.1212/01.wnl.0000400650.92875.cf · Cited by 9,882 · see citing works
Alzheimer Disease in the US Population: Prevalence Estimates Using the 2000 Census
Hebert, L. E., Scherr, P. A., Bienias, J. L., Bennett, D. A., & Evans, D. A. (2003) · Archives of Neurology · doi:10.1001/archneur.60.8.1119 · Cited by 2,168 · see citing works
Mixed brain pathologies account for most dementia cases in community-dwelling older persons
Schneider, J. A., Arvanitakis, Z., Bang, W., & Bennett, D. A. (2007) · Neurology · doi:10.1212/01.wnl.0000271090.28148.24 · Cited by 1,992 · see citing works
Exome sequencing identifies the cause of a mendelian disorder
Ng, S. B., Buckingham, K. J., Lee, C., Bigham, A. W., Tabor, H. K., Dent, K. M., Huff, C. D., Shannon, P. T., Jabs, E. W., Nickerson, D. A., et al. (2010) · Nature Genetics · doi:10.1038/ng.499 · Cited by 1,957 · see citing works
Role of Genes and Environments for Explaining Alzheimer Disease
Gatz, M., Reynolds, C. A., Fratiglioni, L., Johansson, B., Mortimer, J. A., Berg, S., Fiske, A., & Pedersen, N. L. (2006) · Archives of General Psychiatry · doi:10.1001/archpsyc.63.2.168 · Cited by 1,798 · see citing works
The inheritance of liability to certain diseases, estimated from the incidence among relatives
Falconer, D. (1965) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1965.tb00500.x · Cited by 1,662 · see citing works
Prevalence of Alzheimer's disease in a community population of older persons. Higher than previously reported
Evans, D. A. (1989) · JAMA · doi:10.1001/jama.262.18.2551 · Cited by 1,627 · see citing works
Alzheimer's Disease and Parkinson's Disease
Nussbaum, R. L., & Ellis, C. E. (2003) · New England Journal of Medicine · doi:10.1056/nejm2003ra020003 · Cited by 1,351 · see citing works
Genome-wide Analysis of Genetic Loci Associated With Alzheimer Disease
Seshadri, S. (2010) · JAMA · doi:10.1001/jama.2010.574 · Cited by 1,219 · see citing works
The Uniform Data Set (UDS): Clinical and Cognitive Variables and Descriptive Data From Alzheimer Disease Centers
Morris, J. C., Weintraub, S., Chui, H. C., Cummings, J., DeCarli, C., Ferris, S., Foster, N. L., Galasko, D., Graff-Radford, N., Peskind, E. R., et al. (2006) · Alzheimer Disease & Associated Disorders · doi:10.1097/01.wad.0000213865.09806.92 · Cited by 950 · see citing works
The National Alzheimer's Coordinating Center (NACC) Database: The Uniform Data Set
Beekly, D. L., Ramos, E. M., Lee, W. W., Deitrich, W. D., Jacka, M. E., Wu, J., Hubbard, J. L., Koepsell, T. D., Morris, J. C., & Kukull, W. A. (2007) · Alzheimer Disease & Associated Disorders · doi:10.1097/wad.0b013e318142774e · Cited by 907 · see citing works
The Alzheimer's Disease Centers' Uniform Data Set (UDS)
Weıntraub, S., Salmon, D. P., Mercaldo, N. D., Ferris, S. H., Graff‐Radford, N. R., Chui, H. C., Cummings, J. L., DeCarli, C. S., Foster, N. L., Galasko, D. R., et al. (2009) · Alzheimer Disease & Associated Disorders · doi:10.1097/wad.0b013e318191c7dd · Cited by 885 · see citing works
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum
Campion, D., Dumanchin, C., Hannequin, D., Dubois, B., Belliard, S., Puel, M., Thomas-Anterion, C., Michon, A., Martin, C., Charbonnier, F., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302553 · Cited by 785 · see citing works
Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
Lupski, J. R., Reid, J. G., Gonzaga-Jauregui, C., Rio Deiros, D., Chen, D. C. Y., Nazareth, L., Bainbridge, M., Dinh, H., Jing, C., Wheeler, D. A., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa0908094 · Cited by 759 · see citing works
The prevalence and causes of dementia in people under the age of 65 years
Harvey, R. J. (2003) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.74.9.1206 · Cited by 650 · see citing works
Prevalence of Alzheimer's disease in a community population of older persons. Higher than previously reported.
Evans, D. A., Funkenstein, H. H., Albert, M., Scherr, P. A., Cook, N. R., Chown, M. J., Hebert, L. E., Hennekens, C. H., & Taylor, J. O. (1989) · PubMed · Cited by 599 · see citing works
The diagnosis of young-onset dementia
Rossor, M. N., Fox, N. C., Mummery, C. J., Schott, J. M., & Warren, J. D. (2010) · The Lancet Neurology · doi:10.1016/s1474-4422(10)70159-9 · Cited by 585 · see citing works
Prevalence of dementia and probable senile dementia of the Alzheimer type in the Framingham Study
Bachman, D. L., Wolf, P. A., Linn, R., Knoefel, J. E., CobbS, J., Belanger, A., D'Agostino, R. B., & White, L. R. (1992) · Neurology · doi:10.1212/wnl.42.1.115 · Cited by 527 · see citing works
Apolipoprotein E4 allele in a population–based study of early–onset Alzheimer's disease
van Duijn, C. M., de Knijff, P., Cruts, M., Wehnert, A., Havekes, L. M., Albert Hofman, D., & Broeckhoven, C. V. (1994) · Nature Genetics · doi:10.1038/ng0594-74 · Cited by 453 · see citing works
Incidence and Prevalence of Dementia in the Cardiovascular Health Study
Fitzpatrick, A. L., Kuller, L. H., Ives, D. G., Lopez, O. L., Jagust, W., Breitner, J. C. S., Jones, B., Lyketsos, C., & Dulberg, C. (2004) · Journal of the American Geriatrics Society · doi:10.1111/j.1532-5415.2004.52058.x · Cited by 438 · see citing works
A Recessive Mutation in the APP Gene with Dominant-Negative Effect on Amyloidogenesis
Fede, G. D., Catania, M., Morbin, M., Rossi, G., Suardi, S., Mazzoleni, G., Merlin, M., Gıovagnolı, A. R., Prioni, S., Erbetta, A., et al. (2009) · Science · doi:10.1126/science.1168979 · Cited by 415 · see citing works
<i>APOE</i> -ε4 count predicts age when prevalence of AD increases, then declines: The Cache County Study
Breitner, J. C. S., Wyse, B. W., Anthony, J. C., Welsh-Bohmer, K. A., Steffens, D. C., Norton, M. C., Tschanz, J. T., Plassman, B. L., Meyer, M. R., Skoog, I., et al. (1999) · Neurology · doi:10.1212/wnl.53.2.321 · Cited by 397 · see citing works
Incidence of Alzheimer Disease in a Biracial Urban Community: Relation to Apolipoprotein E Allele Status
Evans, D. A., Bennett, D. A., Wilson, R. S., Bienias, J. L., Morris, M. C., Scherr, P. A., Hebert, L. E., Aggarwal, N., Beckett, L. A., Joglekar, R., et al. (2003) · Archives of Neurology · doi:10.1001/archneur.60.2.185 · Cited by 370 · see citing works
The Number of Trait Loci in Late-Onset Alzheimer Disease
Daw, E. W., Payami, H., Nemens, E. J., Nochlin, D., Bird, T. D., Schellenberg, G. D., & Wijsman, E. M. (2000) · The American Journal of Human Genetics · doi:10.1086/302710 · Cited by 295 · see citing works
Clearance mechanisms of Alzheimer's amyloid-β peptide: implications for therapeutic design and diagnostic tests
Bates, K. A., Verdile, G., Li, Q.-X., Ames, D., Hudson, P., Masters, C. L., & Martins, R. N. (2009) · Molecular Psychiatry · doi:10.1038/mp.2008.96 · Cited by 247 · see citing works
The Role of Heredity in Late-Onset Alzheimer Disease and Vascular Dementia
Bergem, A. L. M. (1997) · Archives of General Psychiatry · doi:10.1001/archpsyc.1997.01830150090013 · Cited by 208 · see citing works
The prevalence and 3-year incidence of dementia in older Black and White community residents.
Fillenbaum, G., Heyman, A., Huber, M. S., Woodbury, M., Leiss, J., Schmader, K., Bohannon, A., & Trapp-Moen, B. (1998) · Journal of Clinical Epidemiology · doi:10.1016/s0895-4356(98)00024-9 · Cited by 190 · see citing works
Alzheimer's Disease in the National Academy of Sciences—National Research Council Registry of Aging Twin Veterans
Breitner, J. C. S. (1995) · Archives of Neurology · doi:10.1001/archneur.1995.00540320035011 · Cited by 178 · see citing works
Transmission and age‐at‐onset patterns in familial Alzheimer's disease
Farrer, L. A., Myers, R. H., Cupples, L. A., George‐Hyslop, P. S., Bird, T. D., Rossor, M. N., MULLAN, M. J., Polinsky, R. J., Nee, L. E., Heston, L. L., et al. (1990) · Neurology · doi:10.1212/wnl.40.3_part_1.395 · Cited by 125 · see citing works
Effects of Age, Sex, and Ethnicity on the Association Between Apolipoprotein E Genotype and Alzheimer Disease: A Meta-analysis
Farrer, L. A. (1997) · JAMA · doi:10.1001/jama.1997.03550160069041 · Cited by 124 · see citing works
Alzheimer's disease in Finnish twins
Räihä, I. J., Rajala, T., Sourander, L., Kaprio, J. A., & Koskenvuo, M. (1996) · The Lancet · doi:10.1016/s0140-6736(96)91272-6 · Cited by 123 · see citing works
An inherited variable poly-T repeat genotype in TOMM40 in Alzheimer disease
Roses, A. D. (2010) · Archives of Neurology · doi:10.1001/archneurol.2010.88 · Cited by 118 · see citing works
Clinically diagnosed presenile dementia of the Alzheimer type in the Northern Health Region: ascertainment, prevalence, incidence and survival
Newens, A. J., Forster, D. P., Kay, D. W. K., Kirkup, W., Bates, D., & Edwardson, J. A. (1993) · Psychological Medicine · doi:10.1017/s0033291700025411 · Cited by 92 · see citing works
Alzheimer's Disease and Parkinson's Disease
(2003) · New England Journal of Medicine · doi:10.1056/nejm200306193482528 · Cited by 48 · see citing works
Multiple etiologies for Alzheimer disease are revealed by segregation analysis.
Rao, V. S., van Duijn, C. M., Connor-Lacke, L., Cupples, L. A., Growdon, J. H., & Farrer, L. A. (1994) · PubMed Central · Cited by 37 · see citing works
Heredity in dementia of the Alzheimer type
Bergem, A. L. M. (1994) · Clinical Genetics · doi:10.1111/j.1399-0004.1994.tb04216.x · Cited by 33 · see citing works
Prevalence and causes of young onset dementia in an English health district
Renvoize, E. B., Hanson, M., & Dale, M. C. (2010) · International Journal of Geriatric Psychiatry · doi:10.1002/gps.2456 · Cited by 30 · see citing works
Apolipoprotein E4 allele in a population-based study of early-onset Alzheimer's disease
Cruts, M. (1994) · Neurobiology of Aging · doi:10.1016/0197-4580(94)92994-7 · Cited by 9 · see citing works
Transmission and age-at-onset patterns in familial Alzheimer??s disease: evidence for heterogeneity
Farrer, L. A., Myers, R. H., Cupples, L. A., George-Hyslop, P. S., Bird, T. D., Rossor, M. N., MULLAN, M. J., Polinsky, R. J., Nee, L. E., Heston, L. L., et al. (1991) · Alzheimer Disease & Associated Disorders · doi:10.1097/00002093-199100510-00015 · Cited by 6 · see citing works

Flagged first, then by citations

Sorted by citations

Clearance systems in the brain—implications for Alzheimer disease
Tarasoff-Conway, J. M., Carare, R. O., Osorio, R. S., Glodzik, L., Butler, T., Fieremans, E., Axel, L., Rusinek, H., Nicholson, C., Zlokovic, B. V., et al. (2015) · Nature Reviews Neurology · doi:10.1038/nrneurol.2015.119 · Cited by 1,678 · see citing works
Alzheimer's disease: experimental models and reality
Drummond, E., & Wisniewski, T. (2017) · Acta Neuropathologica · doi:10.1007/s00401-016-1662-x · Cited by 810 · see citing works
Imaging the evolution and pathophysiology of Alzheimer disease
Jagust, W. (2018) · Nature Reviews Neuroscience · doi:10.1038/s41583-018-0067-3 · Cited by 604 · see citing works
Molecular genetics of early-onset Alzheimer’s disease revisited
Cacace, R., Sleegers, K., & Van Broeckhoven, C. (2016) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2016.01.012 · Cited by 617 · see citing works
The multiplex model of the genetics of Alzheimer's disease
Sims, R., Hill, M., & Williams, J. (2020) · Nature Neuroscience · doi:10.1038/s41593-020-0599-5 · Cited by 466 · see citing works
Immunotherapeutic Approaches for Alzheimer’s Disease
Wisniewski, T., & Goñi, F. (2015) · Neuron · doi:10.1016/j.neuron.2014.12.064 · Cited by 284 · see citing works
APOE in the bullseye of neurodegenerative diseases: impact of the APOE genotype in Alzheimer’s disease pathology and brain diseases
Fernández-Calle, R., Konings, S. C., Frontiñán-Rubio, J., García-Revilla, J., Camprubí-Ferrer, L., Svensson, M., Martinson, I., Boza-Serrano, A., Venero, J. L., Nielsen, H. M., et al. (2022) · Molecular Neurodegeneration · doi:10.1186/s13024-022-00566-4 · Cited by 278 · see citing works
Questions concerning the role of amyloid-β in the definition, aetiology and diagnosis of Alzheimer’s disease
Morris, G. P., Clark, I. A., & Vissel, B. (2018) · Acta Neuropathologica · doi:10.1007/s00401-018-1918-8 · Cited by 212 · see citing works
Alzheimer's disease: a comprehensive review of epidemiology, risk factors, symptoms diagnosis, management, caregiving, advanced treatments and associated challenges
Safiri, S., Jolfayi, A. G., Fazlollahi, A., Morsali, S., Sarkesh, A., Sorkhabi, A. D., Golabi, B., Aletaha, R., Asghari, K. M., Hamidi, S., et al. (2024) · Frontiers in Medicine · doi:10.3389/fmed.2024.1474043 · Cited by 242 · see citing works
Proteostasis Failure in Neurodegenerative Diseases: Focus on Oxidative Stress
Höhn, A., Tramutola, A., & Cascella, R. (2020) · Oxidative Medicine and Cellular Longevity · doi:10.1155/2020/5497046 · Cited by 197 · see citing works
Early-Onset Alzheimer’s Disease: What Is Missing in Research?
Ayodele, T., Rogaeva, E. A., Kurup, J. T., Beecham, G. W., & Reitz, C. (2021) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-020-01090-y · Cited by 198 · see citing works
Epigenetics of Alzheimer’s Disease
Perković, M. N., Paska, A. V., Konjevod, M., Kouter, K., Štrac, D. Š., Erjavec, G. N., & Pivac, N. (2021) · Biomolecules · doi:10.3390/biom11020195 · Cited by 181 · see citing works
Late-onset vs nonmendelian early-onset Alzheimer disease
Reitz, C., Rogaeva, E. A., & Beecham, G. W. (2020) · Neurology Genetics · doi:10.1212/nxg.0000000000000512 · Cited by 171 · see citing works
Alzheimer’s Disease: Exploring the Landscape of Cognitive Decline
Tenchov, R., Sasso, J. M., & Zhou, Q. A. (2024) · ACS Chemical Neuroscience · doi:10.1021/acschemneuro.4c00339 · Cited by 170 · see citing works
The genes associated with early-onset Alzheimer’s disease
Dai, M.-H., Zheng, H., Zeng, L.-D., & Zhang, Y. (2017) · Oncotarget · doi:10.18632/oncotarget.23738 · Cited by 171 · see citing works
Early-onset Alzheimer's Disease: Nonamnestic Subtypes and Type 2 AD
Mendez, M. F. (2012) · Archives of Medical Research · doi:10.1016/j.arcmed.2012.11.009 · Cited by 167 · see citing works
A global view of the genetic basis of Alzheimer disease
Reitz, C., Pericak-Vance, M., Foroud, T., & Mayeux, R. (2023) · Nature Reviews Neurology · doi:10.1038/s41582-023-00789-z · Cited by 143 · see citing works
The basis of cellular and regional vulnerability in Alzheimer’s disease
Mrdjen, D., Fox, E. J., Bukhari, S. A., Montine, K. S., Bendall, S. C., & Montine, T. J. (2019) · Acta Neuropathologica · doi:10.1007/s00401-019-02054-4 · Cited by 155 · see citing works
“New Old Pathologies”: AD, PART, and Cerebral Age-Related TDP-43 With Sclerosis (CARTS)
Nelson, P. T., Trojanowski, J. Q., Abner, E. L., Al-Janabi, O. M., Jicha, G. A., Schmitt, F. A., Smith, C. D., Fardo, D. W., Wang, W.-X., Kryscio, R. J., et al. (2016) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/nlw033 · Cited by 158 · see citing works
Genetics of Alzheimer's Disease
Guerreiro, R. J., & Hardy, J. (2014) · Neurotherapeutics · doi:10.1007/s13311-014-0295-9 · Cited by 158 · see citing works
Environment and Gene Association With Obesity and Their Impact on Neurodegenerative and Neurodevelopmental Diseases
Flores-Dorantes, M. T., Díaz‐López, Y. E., & Gutiérrez‐Aguilar, R. (2020) · Frontiers in Neuroscience · doi:10.3389/fnins.2020.00863 · Cited by 159 · see citing works
Neuroinflammation represents a common theme amongst genetic and environmental risk factors for Alzheimer and Parkinson diseases
Boyd, R. J., Avramopoulos, D., Jantzie, L. L., & McCallion, A. S. (2022) · Journal of Neuroinflammation · doi:10.1186/s12974-022-02584-x · Cited by 162 · see citing works
Dissecting the clinical heterogeneity of early-onset Alzheimer’s disease
Sirkis, D. W., Bonham, L. W., Johnson, T. P., La Joie, R., & Yokoyama, J. S. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01531-9 · Cited by 151 · see citing works
Translating genetic risk of Alzheimer’s disease into mechanistic insight and drug targets
Sierksma, A. S. R., Escott‐Price, V., & Strooper, B. D. (2020) · Science · doi:10.1126/science.abb8575 · Cited by 149 · see citing works
P2X7 Receptors Amplify CNS Damage in Neurodegenerative Diseases
Illés, P. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21175996 · Cited by 141 · see citing works
Genetic analyses of early-onset Alzheimer’s disease using next generation sequencing
Giau, V. V., Bagyinszky, E., Yang, Y. S., Youn, Y. C., An, S. S. A., & Kim, S. (2019) · Scientific Reports · doi:10.1038/s41598-019-44848-2 · Cited by 133 · see citing works
APOE-amyloid interaction: Therapeutic targets
Wısnıewskı, T., & Drummond, E. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.104784 · Cited by 125 · see citing works
Genetic architecture of Alzheimer's disease
Neuner, S. M., TCW, J., & Goate, A. M. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.104976 · Cited by 126 · see citing works
“Estimates of heritability for EOAD are as high as 90–100% (Wingo et al., 2012), while heritability estimates for LOAD are slightly lower, in the range of 60–80% (Gatz et al.”
Background
Associations of the Top 20 Alzheimer Disease Risk Variants With Brain Amyloidosis
Apostolova, L. G., Risacher, S. L., Duran, T., Stage, E., Goukasian, N., West, J. D., Do, T. M., Grotts, J. F., Wilhalme, H. M., Nho, K. T., et al. (2018) · JAMA Neurology · doi:10.1001/jamaneurol.2017.4198 · Cited by 122 · see citing works
Association of Early-Onset Alzheimer Disease With Elevated Low-Density Lipoprotein Cholesterol Levels and Rare Genetic Coding Variants of <i>APOB</i>
Wingo, T. S., Cutler, D. J., Wingo, A. P., Le, N.-A., Rabinovici, G. D., Miller, B. L., Lah, J. J., & Levey, A. I. (2019) · JAMA Neurology · doi:10.1001/jamaneurol.2019.0648 · Cited by 119 · see citing works
Self-citation
Alzheimer's disease including focal presentations
Villain, N., & Dubois, B. (2019) · Seminars in Neurology · doi:10.1055/s-0039-1681041 · Cited by 113 · see citing works
A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer’s disease
Verheijen, J., Van den Bossche, T., van der Zee, J., Engelborghs, S., Sanchez-Valle, R., Lladó, A., Graff, C., Thonberg, H., Pastor, P., Ortega-Cubero, S., et al. (2016) · Acta Neuropathologica · doi:10.1007/s00401-016-1566-9 · Cited by 112 · see citing works
Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants
Hoogmartens, J., Cacace, R., & Broeckhoven, C. V. (2021) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1002/dad2.12155 · Cited by 101 · see citing works
Alzheimer’s disease: A clinical perspective and future nonhuman primate research opportunities
Haque, R. U., & Levey, A. I. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1912954116 · Cited by 97 · see citing works
The Longitudinal Early‐onset Alzheimer's Disease Study (LEADS): Framework and methodology
Apostolova, L. G., Aisen, P. S. S., Eloyan, A., Fagan, A. M., Fargo, K. N., Foroud, T., Gatsonis, C. A., Grinberg, L. T., Jack, C. R., Kramer, J. H., et al. (2021) · Alzheimer s & Dementia · doi:10.1002/alz.12350 · Cited by 92 · see citing works
Self-citation
Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and Alzheimer disease risk: a meta-analysis.
Rai, V. (2017) · Molecular Neurobiology · doi:10.1007/s12035-016-9722-8 · Cited by 88 · see citing works
The Patterns of Inheritance in Early-Onset Dementia
Jarmolowicz, A. I., Chen, H.-Y., & Panegyres, P. K. (2014) · American Journal of Alzheimer s Disease & Other Dementias® · doi:10.1177/1533317514545825 · Cited by 87 · see citing works
Alzheimer’s Disease: Pathogenesis and Therapeutic Interventions
Ogbodo, J. O., Agbo, C. P., Njoku, U. O., Ogugofor, M. O., Egba, S. I., Ihim, S. A., Echezona, A. C., Brendan, K. C., Upaganlawar, A. B., & Upasani, C. D. (2021) · Current Aging Science · doi:10.2174/1874609814666210302085232 · Cited by 84 · see citing works
Lecanemab for early Alzheimer's disease: Appropriate use recommendations from the French federation of memory clinics
Villain, N., Planche, V., Lilamand, M., Cordonnier, C., Soto‐Martin, M., Mollion, H., Bombois, S., & Delrieu, J. (2025) · The Journal of Prevention of Alzheimer s Disease · doi:10.1016/j.tjpad.2025.100094 · Cited by 80 · see citing works
Genomics and Functional Genomics of Alzheimer's Disease
Kamboh, M. I. (2022) · Neurotherapeutics · doi:10.1007/s13311-021-01152-0 · Cited by 73 · see citing works
5-Hydroxymethylation-associated epigenetic modifiers of Alzheimer’s disease modulate Tau-induced neurotoxicity
Bernstein, A. I., Lin, Y., Street, R. C., Lin, L., Dai, Q., Yu, L., Bao, H., Gearing, M., Lah, J. J., Nelson, P. T., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw109 · Cited by 73 · see citing works
Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases
Cochran, J. N., Geier, E. G., Bonham, L. W., Newberry, J. S., Amaral, M. D., Thompson, M. L., Lasseigne, B. N., Karydas, A. M., Roberson, E. D., Cooper, G. M., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.03.010 · Cited by 70 · see citing works
Frailty Trajectories Preceding Dementia in the US and UK
Ward, D. D., Flint, J. P., Littlejohns, T. J., Foote, I. F., Canevelli, M., Wallace, L. M. K., Gordon, E. H., Llewellyn, D. J., Ranson, J. M., Hubbard, R. E., et al. (2024) · JAMA Neurology · doi:10.1001/jamaneurol.2024.3774 · Cited by 72 · see citing works
Exploring the Role of PSEN Mutations in the Pathogenesis of Alzheimer’s Disease
Kabir, M. T., Uddin, M. S., Setu, J. R., Ashraf, G. M., Bin-Jumah, M. N., & Abdel‐Daim, M. M. (2020) · Neurotoxicity Research · doi:10.1007/s12640-020-00232-x · Cited by 68 · see citing works
Alzheimer’s Disease: A Clinical Practice-Oriented Review
Alves, L., Correia, A. S., Miguel, R., Alegria, P., & Bugalho, P. (2012) · Frontiers in Neurology · doi:10.3389/fneur.2012.00063 · Cited by 69 · see citing works
ATP5H/KCTD2 locus is associated with Alzheimer's disease risk
Initiative, A. D. N., Boada, M., Antúnez, C., Ramírez‐Lorca, R., DeStefano, A. L., González‐Pérez, A., Gayán, J., López‐Arrieta, J., Ikram, M. A., Hernández, I., et al. (2013) · Molecular Psychiatry · doi:10.1038/mp.2013.86 · Cited by 64 · see citing works
Prion-like mechanisms in Alzheimer disease
Walker, L. C. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-63945-5.00016-7 · Cited by 65 · see citing works
APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease
Giau, V. V., Bagyinszky, E., Youn, Y. C., An, S. S. A., & Kim, S. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20194757 · Cited by 65 · see citing works
Proteopathic Strains and the Heterogeneity of Neurodegenerative Diseases
Walker, L. C. (2016) · Annual Review of Genetics · doi:10.1146/annurev-genet-120215-034943 · Cited by 59 · see citing works
Alzheimer’s Disease and Frontotemporal Dementia: The Current State of Genetics and Genetic Testing Since the Advent of Next-Generation Sequencing
Goldman, J. S., & Deerlin, V. M. V. (2018) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-018-0347-7 · Cited by 63 · see citing works
Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport
Kunkle, B. W., Vardarajan, B. N., Naj, A. C., Whitehead, P. L., Rolati, S., Slifer, S., Carney, R. M., Cuccaro, M. L., Vance, J. M., Gilbert, J. R., et al. (2017) · JAMA Neurology · doi:10.1001/jamaneurol.2017.1518 · Cited by 62 · see citing works
Modulation of mitochondrial bioenergetics as a therapeutic strategy in Alzheimer's disease
Onyango, I. G. (2018) · Neural Regeneration Research · doi:10.4103/1673-5374.224362 · Cited by 61 · see citing works
Developing therapeutic vaccines against Alzheimer’s disease
Wısnıewskı, T., & Drummond, E. (2015) · Expert Review of Vaccines · doi:10.1586/14760584.2016.1121815 · Cited by 58 · see citing works
Frailty and Risk of Dementia in Mild Cognitive Impairment Subtypes
Ward, D. D., Wallace, L. M. K., & Rockwood, K. J. (2021) · Annals of Neurology · doi:10.1002/ana.26064 · Cited by 56 · see citing works
The role of ATP-binding cassette subfamily A in the etiology of Alzheimer’s disease
Bossaerts, L., Cacace, R., & van Broeckhoven, C. (2022) · Molecular Neurodegeneration · doi:10.1186/s13024-022-00536-w · Cited by 50 · see citing works
Brain properties predict proximity to symptom onset in sporadic Alzheimer’s disease
Vogel, J. W., Vachon‐Presseau, É., Binette, A. P., Tam, A., Orban, P., Joie, R. L., Savard, M., Picard, C., Poirier, J., Bellec, P., et al. (2018) · Brain · doi:10.1093/brain/awy093 · Cited by 50 · see citing works
The APOE ε4 exerts differential effects on familial and other subtypes of Alzheimer's disease
Jia, L., Xu, H., Chen, S., Wang, X., Yang, J., Gong, M., Wei, C., Tang, Y., Qu, Q., Chu, L., et al. (2020) · Alzheimer s & Dementia · doi:10.1002/alz.12153 · Cited by 53 · see citing works
Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer’s Disease Before 51 Years
Lacour, M., Quenez, O., Rovelet‐Lecrux, A., Salomon, B., Rousseau, S., Richard, A., Quillard‐Muraine, M., Pasquier, F., Rollin‐Sillaire, A., Martinaud, O., et al. (2019) · Journal of Alzheimer s Disease · doi:10.3233/jad-190193 · Cited by 53 · see citing works
Differential microRNA expression analyses across two brain regions in Alzheimer’s disease
Dobričić, V., Schilling, M., Schulz, J., Zhu, L., Zhou, C.-W., Fuß, J., Franzenburg, S., Zhu, L., Parkkinen, L., Lill, C. M., et al. (2022) · Translational Psychiatry · doi:10.1038/s41398-022-02108-4 · Cited by 52 · see citing works
A machine learning approach to brain epigenetic analysis reveals kinases associated with Alzheimer’s disease
Huang, Y., Sun, X., Jiang, H., Yu, S., Robins, C., Armstrong, M. J., Li, R., Mei, Z. X., Shi, X., Gerasimov, E. S., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-24710-8 · Cited by 50 · see citing works
Self-citation
Exploring the Key Genes and Identification of Potential Diagnosis Biomarkers in Alzheimer’s Disease Using Bioinformatics Analysis
Yu, W., Yu, W., Yang, Y., & Lü, Y. (2021) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2021.602781 · Cited by 50 · see citing works
A Review of the Recent Advances in Alzheimer’s Disease Research and the Utilization of Network Biology Approaches for Prioritizing Diagnostics and Therapeutics
Hajjo, R., Sabbah, D. A., Abusara, O. H., & Bawab, A. Q. A. (2022) · Diagnostics · doi:10.3390/diagnostics12122975 · Cited by 55 · see citing works
Common variants in ABCA7 and MS4A6A are associated with cortical and hippocampal atrophy
Ramirez, L. M., Goukasian, N., Porat, S., Hwang, K., Eastman, J. A., Hurtz, S., Wang, B., Vang, N., Sears, R., Klein, E., et al. (2015) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2015.10.037 · Cited by 49 · see citing works
Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array
Barber, I., Braae, A., Clement, N. S., Patel, T., Guetta‐Baranes, T., Brookes, K. J., Medway, C., Chappell, S., Guerreiro, R. J., Brás, J., et al. (2016) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2016.09.008 · Cited by 48 · see citing works
The effect of the top 20 Alzheimer disease risk genes on gray‐matter density and FDG PET brain metabolism
Stage, E., Duran, T., Risacher, S. L., Goukasian, N., Do, T. M., West, J. D., Wilhalme, H. M., Nho, K. T., Phillips, M. L., Elashoff, D. A., et al. (2016) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1016/j.dadm.2016.12.003 · Cited by 49 · see citing works
The P2X7 receptor: a new therapeutic target in Alzheimer’s disease
Illés, P., Rubini, P., Huang, L., & Tang, Y. (2019) · Expert Opinion on Therapeutic Targets · doi:10.1080/14728222.2019.1575811 · Cited by 49 · see citing works
The Role of TREM2 in Alzheimer’s Disease and Other Neurological Disorders
Yaghmoor, F. (2014) · Journal of Alzheimer’s Disease & Parkinsonism · doi:10.4172/2161-0460.1000160 · Cited by 45 · see citing works
Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer's disease
Chaudhury, S., Patel, T., Barber, I., Guetta‐Baranes, T., Brookes, K. J., Chappell, S., Turton, J. C., Guerreiro, R. J., Brás, J., Hernandez, D. G., et al. (2017) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2017.09.035 · Cited by 47 · see citing works
Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals
Ghani, M., Reitz, C., Cheng, R., Vardarajan, B. N., Jun, G., Sato, C., Naj, A. C., Rajbhandary, R., Wang, L. S., Valladares, O., et al. (2015) · JAMA Neurology · doi:10.1001/jamaneurol.2015.1700 · Cited by 45 · see citing works
Role of TREM2 in Alzheimer's Disease and its Consequences on β- Amyloid, Tau and Neurofibrillary Tangles
Singh, A. K., Mishra, G., Maurya, A., Awasthi, R., Kumari, K., Thakur, A., Rai, A., Rai, G. K., Sharma, B., Kulkarni, G. T., et al. (2019) · Current Alzheimer Research · doi:10.2174/1567205016666190903102822 · Cited by 45 · see citing works
Evidence of Recessive Alzheimer Disease Loci in a Caribbean Hispanic Data Set
Ghani, M., Sato, C., Lee, J. H., Reitz, C., Moreno, D., Mayeux, R. P., George‐Hyslop, P. S., & Rogaeva, E. A. (2013) · JAMA Neurology · doi:10.1001/jamaneurol.2013.3545 · Cited by 40 · see citing works
Attention‐deficit/hyperactivity disorder and Alzheimer's disease and any dementia: A multi‐generation cohort study in Sweden
Zhang, L., Rietz, E. D., Kuja‐Halkola, R., Dobrosavljevic, M., Johnell, K., Pedersen, N. L., Larsson, H., & Chang, Z. (2021) · Alzheimer s & Dementia · doi:10.1002/alz.12462 · Cited by 41 · see citing works
The Potential Role of Herpes Simplex Virus Type 1 and Neuroinflammation in the Pathogenesis of Alzheimer's Disease
Laval, K., & Enquist, L. W. (2021) · Frontiers in Neurology · doi:10.3389/fneur.2021.658695 · Cited by 40 · see citing works
Roles of microglia in Alzheimer’s disease and impact of new findings on microglial heterogeneity as a target for therapeutic intervention
Takata, K., Ginhoux, F., & Shimohama, S. (2021) · Biochemical Pharmacology · doi:10.1016/j.bcp.2021.114754 · Cited by 40 · see citing works
Challenge accepted: uncovering the role of rare genetic variants in Alzheimer’s disease
Khani, M., Gibbons, E., Bras, J., & Guerreiro, R. (2022) · Molecular Neurodegeneration · doi:10.1186/s13024-021-00505-9 · Cited by 39 · see citing works
Association of methylenetetrahydrofolate reductase polymorphisms with susceptibility to Alzheimer's disease
Mansouri, L., Fekih‐Mrissa, N., Klai, S., Mansour, M., Gritli, N., & Mrissa, R. (2013) · Clinical Neurology and Neurosurgery · doi:10.1016/j.clineuro.2013.03.015 · Cited by 38 · see citing works
The Perspective of Dysregulated LncRNAs in Alzheimer's Disease: A Systematic Scoping Review
Asadi, M. R., Hassani, M., Kiani, S., Sabaie, H., Moslehian, M. S., Kazemi, M., Ghafouri‐Fard, S., Taheri, M. N., & Rezazadeh, M. (2021) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2021.709568 · Cited by 38 · see citing works
Recurrent moderate hypoglycemia accelerates the progression of Alzheimer’s disease through impairment of the TRPC6/GLUT3 pathway
He, C., Li, Q., Cui, Y., Gao, P., Shu, W., Zhou, Q., Wang, L., Li, L., Lu, Z., Zhao, Y., et al. (2022) · JCI Insight · doi:10.1172/jci.insight.154595 · Cited by 37 · see citing works
Alzheimer’s Disease: From Pathogenesis to Mesenchymal Stem Cell Therapy – Bridging the Missing Link
Hu, J., & Wang, X. (2022) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2021.811852 · Cited by 40 · see citing works
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory allelesPreprint
Cochran, J. N., McKinley, E., Cochran, J. N., Amaral, M. D., Moyers, B. A., Lasseigne, B. N., Gray, D. E., Lawlor, J. M. J., Prokop, J. W., Geier, E. G., et al. (2019) · Molecular Case Studies · doi:10.1101/mcs.a003491 · Cited by 37 · see citing works
An agnostic reevaluation of the amyloid cascade hypothesis of Alzheimer's disease pathogenesis: The role of APP homeostasis
Caselli, R. J., Knopman, D. S., & Bu, G. (2020) · Alzheimer s & Dementia · doi:10.1002/alz.12124 · Cited by 36 · see citing works
New Insights into the Molecular Bases of Familial Alzheimer’s Disease
D’Argenio, V., & Sarnataro, D. (2020) · Journal of Personalized Medicine · doi:10.3390/jpm10020026 · Cited by 35 · see citing works
Crosstalk between Different DNA Repair Pathways Contributes to Neurodegenerative Diseases
Gupta, S., You, P., SenGupta, T., Nilsen, H. L., & Sharma, K. (2021) · Biology · doi:10.3390/biology10020163 · Cited by 34 · see citing works
What is the role of modifiable environmental and lifestyle risk factors in young onset dementia?
Cations, M., Withall, A., Low, L., & Draper, B. (2016) · European Journal of Epidemiology · doi:10.1007/s10654-015-0103-9 · Cited by 30 · see citing works
Mendelian Randomisation Confirms the Role of Y-Chromosome Loss in Alzheimer’s Disease Aetiopathogenesis in Men
García‐González, P., de Rojas, I., Moreno–Grau, S., Montrreal, L., Puerta, R., Alarcón‐Martín, E., Quintela, I., Orellana, A., Andrade, V., Adami, P. V. M., et al. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24020898 · Cited by 31 · see citing works
Genetic insights into immune mechanisms of Alzheimer’s and Parkinson’s disease
Nott, A., & Holtman, I. R. (2023) · Frontiers in Immunology · doi:10.3389/fimmu.2023.1168539 · Cited by 31 · see citing works
Role of TET1-mediated epigenetic modulation in Alzheimer's disease
Armstrong, M. J., Jin, Y., Vattathil, S., Huang, Y., Schroeder, J. P., Bennet, D. A., Qin, Z. S., Wingo, T. S., & Jin, P. (2023) · Neurobiology of Disease · doi:10.1016/j.nbd.2023.106257 · Cited by 30 · see citing works
Self-citation
Inbreeding among Caribbean Hispanics from the Dominican Republic and its effects on risk of Alzheimer disease
Vardarajan, B. N., Schaid, D. J., Reitz, C., Lantigua, R., Medrano, M. Z., Jiménez‐Velázquez, I. Z., Lee, J. H., Ghani, M., Rogaeva, E. A., George‐Hyslop, P. S., et al. (2014) · Genetics in Medicine · doi:10.1038/gim.2014.161 · Cited by 29 · see citing works
Long runs of homozygosity are associated with Alzheimer’s disease
Moreno–Grau, S., Fernández, M. V., de Rojas, I., García‐González, P., Hernández, I., Farias, F. G., Budde, J., Quintela, I., Madrid, L., González‐Pérez, A., et al. (2021) · Translational Psychiatry · doi:10.1038/s41398-020-01145-1 · Cited by 27 · see citing works
Pathogenic variants in the Longitudinal Early‐onset Alzheimer's Disease Study cohort
Nudelman, K. N. H., Jackson, T., Rumbaugh, M. C., Eloyan, A., Abreu, M., Dage, J. L., Snoddy, C., Faber, K. M., Foroud, T., Hammers, D. B., et al. (2023) · Alzheimer s & Dementia · doi:10.1002/alz.13482 · Cited by 27 · see citing works
Self-citation
Charting Alzheimer’s Disease and Dementia: Epidemiological Insights, Risk Factors and Prevention Pathways
Contador, I., Buch-Vicente, B., del Ser, T., Velasco, S. L., Villarejo‐Galende, A., Benito‐León, J., & Bermejo‐Pareja, F. (2024) · Journal of Clinical Medicine · doi:10.3390/jcm13144100 · Cited by 30 · see citing works
Folate Pathway Gene Methylenetetrahydrofolate Reductase C677T Polymorphism and Alzheimer Disease Risk in Asian Population
Rai, V. (2015) · Indian Journal of Clinical Biochemistry · doi:10.1007/s12291-015-0512-2 · Cited by 27 · see citing works
Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer’s Disease
Boscher, E., Husson, T., Quenez, O., Laquerrière, A., Marguet, F., Cassinari, K., Wallon, D., Martinaud, O., Charbonnier, C., Nicolas, G., et al. (2019) · Journal of Alzheimer s Disease · doi:10.3233/jad-180940 · Cited by 27 · see citing works
Genetics of Alzheimer’s disease
König, T., & Stögmann, E. (2021) · Wiener Medizinische Wochenschrift · doi:10.1007/s10354-021-00819-9 · Cited by 20 · see citing works
Beyond the amyloid cascade: An update of Alzheimer's disease pathophysiology
Gouilly, D., Rafiq, M., Nogueira, L., Salabert, A., Payoux, P., Péran, P., & Pariente, J. (2023) · Revue Neurologique · doi:10.1016/j.neurol.2022.12.006 · Cited by 27 · see citing works
Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer’s disease identifies a homozygous CTSF mutation
Bras, J., Djaldetti, R., Alves, A. M., Mead, S., Darwent, L., Lleo, A., Molinuevo, J. L., Blesa, R., Singleton, A., Hardy, J., et al. (2016) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2016.06.018 · Cited by 27 · see citing works
Potential Novel Approaches to Understand the Pathogenesis and Treat Alzheimer’s Disease
Drummond, E., Goñi, F., Liu, S., Prelli, F., Scholtzova, H., & Wısnıewskı, T. (2018) · Journal of Alzheimer s Disease · doi:10.3233/jad-179909 · Cited by 26 · see citing works
Alzheimer’s Disease: Models and Molecular Mechanisms Informing Disease and Treatments
Nystuen, K., McNamee, S. M., Akula, M., Holton, K. M., DeAngelis, M. M., & Haider, N. B. (2024) · Bioengineering · doi:10.3390/bioengineering11010045 · Cited by 27 · see citing works
New molecular approaches to Alzheimer's disease
Resta, C. D., & Ferrari, M. (2019) · Clinical Biochemistry · doi:10.1016/j.clinbiochem.2019.04.010 · Cited by 26 · see citing works
Transcriptomic profiling of sporadic Alzheimer’s disease patients
Caldwell, A. B., Anantharaman, B. G., Ramachandran, S., Nguyen, P. A. H., Liu, Q., Trinh, I., Galasko, D. R., Desplats, P., Wagner, S. L., & Subramaniam, S. (2022) · Molecular Brain · doi:10.1186/s13041-022-00963-2 · Cited by 25 · see citing works

P4‐343: Early‐onset Alzheimer's disease likely has autosomal recessive causes
Wingo, T. S., Levey, A. I., Lah, J. J., & Cutler, D. J. (2011) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2011.09.088
Self-citation
Whole genome analysis in a consanguineous family with early onset Alzheimer's disease
Clarimón, J., Djaldetti, R., Lleó, A., Guerreiro, R. J., Molinuevo, J. L., Paisán‐Ruiz, C., Gómez‐Isla, T., Blesa, R., Singleton, A., & Hardy, J. (2008) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2008.02.008 · Cited by 26 · see citing works
Heritability analyses show partial genetic overlap between (non‐Mendelian) early and late onset Alzheimer disease due to an intriguing APOE effect
da Fonseca, E. L., Jean‐Francois, M. N., Kurup, J. T., Slifer, S. H., Martin, E. R., Kunkle, B. W., Schellenberg, G. D., Pericak‐Vance, M. A., Fernández, M. V., Cruchaga, C., et al. (2021) · Alzheimer s & Dementia · doi:10.1002/alz.056143
Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants
Hoogmartens, J., Cacace, R., & Broeckhoven, C. V. (2021) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1002/dad2.12155 · Cited by 101 · see citing works
Genomic assessment of early‐onset AD identifies novel risk loci and an incomplete genetic overlap with late‐onset AD
da Fonseca, E. L., Jean‐Francois, M. N., Kurup, J. T., Yang, C., Slifer, S. H., Martin, E. R., Kunkle, B. W., Naj, A. C., Farrer, L. A., Haines, J. L., et al. (2023) · Alzheimer s & Dementia · doi:10.1002/alz.068161

Authors: Wingo, T. S.
Affiliations: Emory University (US)
Corresponding author: Wingo, Thomas S.
ORCID: Wingo, Thomas S.
Venue: Archives of Neurology
Publisher: American Medical Association (AMA)
Published: 2012-01-01
Volume: 69
Issue: 1
Pages: 59
ISSN: 0003-9942 (ISSN-L)
DOI: 10.1001/archneurol.2011.221
PMC: PMC3332307
OpenAlex: W2170959965
Cited by: 265
References: 40
Citations by year: 2026: 16 · 2025: 31 · 2024: 26 · 2023: 22 · 2022: 25 · 2021: 31 · 2020: 26 · 2019: 26 · 2018: 14 · 2017: 7 · 2016: 13 · 2015: 9 · 2014: 7 · 2013: 5 · 2012: 7
FWCI: 4.15
Type: journal article
Language: en
Open access: green
europepmc.org
Locations: Archives of Neurology (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: National Alzheimer's Coordinating Center (U01AG016976)
National Institutes of Health (UL1TR000454, AG016976, AG025688)
National Institute on Aging (U01AG016976, P50AG025688)
National Human Genome Research Institute (R01HG003461)
National Center for Advancing Translational Sciences
Topics: Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords: early-onset Alzheimer's disease, late-onset Alzheimer's disease, autosomal recessive inheritance, heritability, sibling concordance, liability threshold model, polygenic inheritance
MeSH terms: Adult, Alzheimer Disease, Apolipoproteins E, Family Health, Female, Genotype, Humans, Male, Middle Aged, Neuropsychological Tests, Risk Factors, Cohort Studies, Age of Onset, Genetic Predisposition to Disease

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

Autosomal Recessive Causes Likely in Early-Onset Alzheimer Disease

Abstract

Integrity signals

Claims the paper makes

Claims other papers make about this one

Self-check

Cites

Cited by

Related

Record

About these checks