Association of Apolipoprotein E ɛ4 Allele With Clinical and Multimodal Biomarker Changes of Alzheimer Disease in Adults With Down Syndrome
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Importance: Alzheimer disease (AD) is the leading cause of death in individuals with Down syndrome (DS). Previous studies have suggested that the APOE ɛ4 allele plays a role in the risk and age at onset of dementia in DS; however, data on in vivo biomarkers remain scarce. Objective: To investigate the association of the APOE ɛ4 allele with clinical and multimodal biomarkers of AD in adults with DS. Design, Setting, and Participants: This dual-center cohort study recruited adults with DS in Barcelona, Spain, and in Cambridge, UK, between June 1, 2009, and February 28, 2020. Included individuals had been genotyped for APOE and had at least 1 clinical or AD biomarker measurement; 2 individuals were excluded because of the absence of trisomy 21. Participants were either APOE ɛ4 allele carriers or noncarriers. Main Outcomes and Measures: Participants underwent a neurological and neuropsychological assessment. A subset of participants had biomarker measurements: Aβ1-42, Aβ1-40, phosphorylated tau 181 (pTau181) and neurofilament light chain (NfL) in cerebrospinal fluid (CSF), pTau181, and NfL in plasma; amyloid positron emission tomography (PET); fluorine 18-labeled-fluorodeoxyglucose PET; and/or magnetic resonance imaging. Age at symptom onset was compared between APOE ɛ4 allele carriers and noncarriers, and within-group local regression models were used to compare the association of biomarkers with age. Voxelwise analyses were performed to assess topographical differences in gray matter metabolism and volume. Results: Of the 464 adults with DS included in the study, 97 (20.9%) were APOE ɛ4 allele carriers and 367 (79.1%) were noncarriers. No differences between the 2 groups were found by age (median [interquartile range], 45.9 [36.4-50.2] years vs 43.7 [34.9-50.2] years; P = .56) or sex (51 male carriers [52.6%] vs 199 male noncarriers [54.2%]). APOE ɛ4 allele carriers compared with noncarriers presented with AD symptoms at a younger age (mean [SD] age, 50.7 [4.4] years vs 52.7 [5.8] years; P = .02) and showed earlier cognitive decline. Locally estimated scatterplot smoothing curves further showed between-group differences in biomarker trajectories with age as reflected by nonoverlapping CIs. Specifically, carriers showed lower levels of the CSF Aβ1-42 to Aβ1-40 ratio until age 40 years, earlier increases in amyloid PET and plasma pTau181, and earlier loss of cortical metabolism and hippocampal volume. No differences were found in NfL biomarkers or CSF total tau and pTau181. Voxelwise analyses showed lower metabolism in subcortical and parieto-occipital structures and lower medial temporal volume in APOE ɛ4 allele carriers. Conclusions and Relevance: In this study, the APOE ɛ4 allele was associated with earlier clinical and biomarker changes of AD in DS. These results provide insights into the mechanisms by which APOE increases the risk of AD, emphasizing the importance of APOE genotype for future clinical trials in DS.
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In DSAD, the effect of APOEε4 genotype on the age of onset of clinical features of disease and AD biomarkers is significant, but relatively modest compared with the effect of the genotype in LOAD, and may be limited to females.
“Notably, recent work has indicated that in DSAD, the effect of APOEε4 genotype on the age of onset of clinical features of disease and AD biomarkers is significant, but relatively modest compared with the effect of the genotype in LOAD, and may be limited to females [5, 20, 32].”
From Apolipoprotein E abundance is elevated in the brains of individuals with Down syndrome–Alzheimer’s disease (2025) · cites this paper as [5]
The Results (Clinical and Neuropsychological Findings; page not available) report that APOE ε4 carriers with Down syndrome received a symptomatic AD diagnosis about two years earlier than noncarriers; the Discussion also reports earlier biomarker changes. The paper does not establish that this effect is smaller than in late-onset AD or that it may be limited to females. It reports a similar association with AD processes in the general population, but does not compare effect sizes or show a female-specific clinical effect. (LLM, conf=0.86)
Experimental — accuracy not yet measuredAPOEε4 can accelerate age-related cognitive decline even in genetically determined Alzheimer disease, such as familial autosomal dominant Alzheimer disease and Down syndrome, whereas APOEε2 can delay age of onset even in familial autosomal dominant Alzheimer disease.
“Remarkably, APOEε4 can accelerate age-related cognitive decline even in genetically determined AD, such as familial autosomal dominant AD31 and Down syndrome82, whereas APOEε2 can delay age of onset even in familial autosomal dominant AD83.”
From Multifaceted roles of APOE in Alzheimer disease (2024) · cites this paper as [82]
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Self-citationAβ and tau prions feature in the neuropathogenesis of Down syndrome
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Chronic RNA G-quadruplex accumulation in aging and Alzheimer’s disease
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Cryo-EM structures reveal tau filaments from Down syndrome adopt Alzheimer’s disease fold
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Rodent Modeling of Alzheimer's Disease in Down Syndrome: In vivo and ex vivo Approaches
Farrell, C., Mumford, P., & Wiseman, F. K. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2022.909669 · Cited by 22 · see citing works
Exploring the role of sex differences in Alzheimer's disease pathogenesis in Down syndrome
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Characterization of white matter hyperintensities in Down syndrome
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Self-citationCell models for Down syndrome-Alzheimer’s disease research
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Self-citationSex and gender differences in dementia
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Self-citationResistance and resilience to Alzheimer's disease in Down syndrome
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Self-citationAlzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome
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Self-citationSuppressing APOE4-induced neural pathologies by targeting the VHL–HIF axis
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Sex-related differences in genetically determined Alzheimer’s disease
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Self-citationHamadelseed, O., Elkhidir, I., & Skutella, T. (2022) · Neurology and Therapy · doi:10.1007/s40120-022-00361-9 · Cited by 14 · see citing works
Altered spontaneous brain activity in Down syndrome and its relation with cognitive outcome
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Cortical microinfarcts in adults with Down syndrome assessed with 3T‐MRI
Aranha, M. R., Montal, V., van den Brink, H., Pegueroles, J., Carmona‐Iragui, M., Videla, L., Maure‐Blesa, L., Benejam, B., Arranz, J., Valldeneu, S., et al. (2024) · Alzheimer s & Dementia · doi:10.1002/alz.13797 · Cited by 10 · see citing works
Self-citationChronic RNA G-quadruplex accumulation in aging and Alzheimer’s diseasePreprint
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Lessons from Down syndrome and autosomal dominant Alzheimer's disease
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“Notably, recent work has indicated that in DSAD, the effect of APOEε 4 genotype on the age of onset of clinical features of disease and AD biomarkers is significant, but relatively modest compared with the effect of the genotype in LOAD, and may be limited to females [5, 20, 32].”
Risk of Alzheimer's disease in Down syndrome: Insights gained by multi‐omics
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Common mental health disorders and cognitive decline in a longitudinal Down syndrome cohort
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What Can We Learn About Alzheimer’s Disease from People with Down Syndrome?
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de Andrade, M. L., Silva, S. M., Pereira, G. S., de Moraes, J. F., Fonseca, P. R., Corrêa, J. C. F., & Corrêa, F. I. (2023) · ABCS Health Sciences · doi:10.7322/abcshs.2021292.2015 · Cited by 3 · see citing works
Vaqué‐Alcázar, L., Videla, L., Benejam, B., Soriano, L. D. H., Barroeta, I., Fernandez, S., Rodríguez‐Baz, Í., Arriola‐Infante, J. E., Arranz, J., Maure‐Blesa, L., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70447 · Cited by 2 · see citing works
Self-citationUnique Pathology in the Locus Coeruleus of Individuals with Down Syndrome
Saternos, H., Hamlett, E. D., Guzman, S. J., Head, E., Granholm, A., & Ledreux, A. (2024) · Journal of Alzheimer s Disease · doi:10.3233/jad-240043 · Cited by 2 · see citing works
Nerve Growth Factor Compromise in Down Syndrome
Carmo, S. D., Kannel, B., & Cuello, A. C. (2021) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2021.719507 · Cited by 2 · see citing works
Chronic RNA G-quadruplex Accumulation in Aging and Alzheimer’s DiseasePreprint
Kallweit, L. M., Hamlett, E. D., Saternos, H., Gilmore, A., Granholm, A., & Horowitz, S. A. (2025) · eLife · doi:10.7554/elife.105446.2 · Cited by 2 · see citing works
Shinomoto, M., Takeuchi, C., Tatebe, H., Kitani‐Morii, F., Ohmichi, T., Fujino, Y., Menjo, K., Terada, N., Osako, M., Mochizuki, Y., et al. (2024) · PLoS ONE · doi:10.1371/journal.pone.0311878 · Cited by 1 · see citing works
Cross‐Sectional FDG in Down Syndrome and Autosomal Dominant Alzheimer's Disease
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Self-citationFactors impacting survival in individuals with Down syndrome‐associated Alzheimer's disease
Benejam, B., McCarron, M., Carmona‐Iragui, M., Dunne, P., Maure‐Blesa, L., Altuna, M., Arranz, J., Barroeta, I., Bejanin, A., Soriano, L. D. H., et al. (2026) · Alzheimer s & Dementia · doi:10.1002/alz.71156 · Cited by 1 · see citing works
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Use of anti–amyloid‐β monoclonal antibodies in persons with Down syndrome Alzheimer's disease
Farrell, C., Saini, F., Beidas, M. M., Ryan, N. S., Strydom, A., & Wiseman, F. K. (2026) · Alzheimer s & Dementia · doi:10.1002/alz.71404 · Cited by 1 · see citing works
The Role of Genetic Alterations in the Emergence of Alzheimer's Disease in Down Syndrome: A Review
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Self-citationSuppressing APOE4-induced mortality and cellular damage by targeting VHLPreprint
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A New Role for RNA G-quadruplexes in Aging and Alzheimer’s DiseasePreprint
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Self-citationAmyloid age and tau PET timeline to symptomatic Alzheimer’s disease in Down syndromePreprint
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Self-citationSimple Worm, Complex Disorder: Studying Down Syndrome Mechanisms in the Unassuming Model C. elegans
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Self-citationPrecision medicine for Alzheimer's disease in Down syndrome
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Self-citationContribution of G4 Structure to Alzheimer’s Disease and Tau Pathology
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Fluorogenic RNA aptamer-based probes for molecular diagnostics
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- Authors
- Bejanin, A., Iulita, M. F., Vilaplana, E., Carmona-Iragui, M., Benejam, B., Videla, L., Barroeta, I., Fernandez, S., Altuna, M., Pegueroles, J., Montal, V., Valldeneu, S., Giménez, S., González-Ortiz, S., Muñoz, L., Padilla, C., Aranha, M. R., Estellés, T., Illán-Gala, I., Belbin, O., Camacho, V., Wilson, L. R., Annus, T., Osorio, R. S., Videla, S., Lehmann, S., Holland, A. J., Zetterberg, H., Blennow, K., Alcolea, D., Clarimon, J., Zaman, S. H., Blesa, R., Lleó, A., & Fortea, J.
- Affiliations
- Universitat Autònoma de Barcelona (ES)
- Sant Pau Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain
- Barcelona Down Medical Center, Fundació Catalana Síndrome de Down, Barcelona, Spain
- Hospital de Sant Pau (ES)
- Hospital del Mar, Barcelona, Spain
- University of Cambridge (GB)
- NYU Langone Health (US)
- Institut d'Investigació Biomédica de Bellvitge (ES)
- Inserm (FR)
- Sahlgrenska University Hospital (SE)
- National Health Service (GB)
- Corresponding author
- Bejanin, Alexandre
- Fortea, Juan
- ORCID
- Bejanin, Alexandre
- Iulita, Maria Florencia
- Vilaplana, Eduard
- Benejam, Bessy
- Videla, Laura
- Barroeta, Isabel
- Altuna, Miren
- Pegueroles, Jordi
- Giménez, Sandra
- Muñoz, Laia
- Padilla, Concepción
- Aranha, Mateus Rozalem
- Belbin, Olivia
- Camacho, Valle
- Wilson, Liam Reese
- Osorio, Ricardo S.
- Videla, Sebastián
- Lehmann, Sylvain
- Holland, Anthony J.
- Zetterberg, Henrik
- Blennow, Kaj
- Alcolea, Daniel
- Zaman, Shahid H.
- Blesa, Rafael
- Lleó, Alberto
- Fortea, Juan
- Venue
- JAMA Neurology
- Publisher
- American Medical Association (AMA)
- Published
- 2021-08-01
- Volume
- 78
- Issue
- 8
- Pages
- 937
- ISSN
- 2168-6149 (ISSN-L)
- PMC
- PMC8261691
- OpenAlex
- W3179066206
- Cited by
- 76
- References
- 54
- Citations by year
- 2026: 11 · 2025: 20 · 2024: 15 · 2023: 11 · 2022: 14 · 2021: 5
- FWCI
- 9.75
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by
- Locations
- JAMA Neurology (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Dipòsit Digital de Documents de la UAB (Universitat Autònoma de Barcelona) (submittedVersion, cc-by)
- HAL (submittedVersion, cc-by)
- Dipòsit Digital de la Universitat de Barcelona (Universitat de Barcelona) (submittedVersion, cc-by)
- UCL Discovery (University College London) (submittedVersion)
- Repositori digital de la UPF (Universitat Pompeu Fabra) (submittedVersion, cc-by)
- Funders
- European Commission (860197)
- Instituto de Salud Carlos III
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Keywords
- Alzheimer's disease, Down syndrome, APOE ε4, amyloid PET, FDG-PET, phosphorylated tau, neurofilament light chain, cerebrospinal fluid biomarkers, age at symptom onset, gray matter volume, neurodegeneration, dementia risk, adults with Down syndrome, multimodal biomarkers
- MeSH terms
- Adult, Alleles, Alzheimer Disease, Apolipoproteins E, Atrophy, Down Syndrome, Female, Glucose, Heterozygote, Hippocampus, Humans, Male, Middle Aged, Peptide Fragments, Cohort Studies, Biomarkers, Amyloid beta-Peptides, tau Proteins, Apolipoprotein E4
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