ArticleFrontiers in public health2018
Phenotypic Heterogeneity in Dementia: A Challenge for Epidemiology and Biomarker Studies.
Article in Frontiers in public health, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
47 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Plasma and cerebrospinal fluid ABeta42 for the differential diagnosis of Alzheimer's disease dementia in participants diagnosed with any dementia subtype in a specialist care setting.The Cochrane database of systematic reviews · 2021Pooled it
- The dementia care study (D-CARE): Recruitment strategies and demographic characteristics of participants in a pragmatic randomized trial of dementia care.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Trial
- A Type 2 Diabetes Subtype Responsive to ACCORD Intensive Glycemia Treatment.Diabetes care · 2021Trial
- Encoding Discordance in the Alzheimer's Disease A/T/N Framework.medRxiv : the preprint server for health sciences · 2026Article
- Dementia etiology classification using NULISA plasma biomarkers and machine learning.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Disentangling global atrophy burden from local structural patterns reveals clinically relevant heterogeneity in mild cognitive impairment.Research square · 2026Article
- Multimodal neuroimaging and AI integration in cognitive disorders: advances, challenges, and future directions for precision medicine.Psychoradiology · 2026Review
- Dementia and communication comorbidities within the context of caregiver support systems: a scoping review.BMC geriatrics · 2025Article
- Dementia risk prediction: A comparative analysis of the ANU-ADRI, CAIDE, CogDrisk, LIBRA, and LIBRA2 indices in the HUNT study.The journal of prevention of Alzheimer's disease · 2025Article
- Lessons learned from the participatory development of a framework to actively involve people living with dementia, individuals from their social networks, and healthcare professionals in systematic reviews: the DECIDE-SR study.Research involvement and engagement · 2025Article
- Altered triple network model connectivity is associated with cognitive function and depressive symptoms in older adults.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Observational
- Topic Issue: "Translational Advances in Neurodegenerative Dementias".Neurology international · 2025Article
- The graded multidimensional geometry of phenotypic variation and progression in neurodegenerative syndromes.Brain : a journal of neurology · 2025Article
- Association between dementia and left atrial appendage occlusion in patients with atrial fibrillation: A TriNetX-based retrospective cohort study with target trial emulation.Heart rhythm O2 · 2025Article
- Adaptive Subtype and Stage Inference for Alzheimer's Disease.Medical image computing and computer-assisted intervention : MICCAI ... International Conference on Medical Image Computing and Computer-Assisted Intervention · 2024Article
- Personalizing progressive changes to brain structure in Alzheimer's disease using normative modeling.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Essential New Complexity-Based Themes for Patient-Centered Diagnosis and Treatment of Dementia and Predementia in Older People: Multimorbidity and Multilevel Phenomenology.Journal of clinical medicine · 2024Review
- Constructing personalized characterizations of structural brain aberrations in patients with dementia using explainable artificial intelligence.NPJ digital medicine · 2024Article
- Association of Apolipoprotein E (APOE) Polymorphisms With Serological Lipid and Inflammatory Markers.Cureus · 2024Article
- Association Between Hypnotics and Dementia: A Mini Narrative Review.Psychiatry investigation · 2024Article
Corrections and comments
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4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dementia can result from a number of distinct diseases with differing etiology and pathophysiology. Even within the same disease, there is considerable phenotypic heterogeneity with varying symptoms and disease trajectories. Dementia diagnosis is thus very complex, time-consuming, and expensive and can only be made definitively post-mortem with histopathological confirmation. These inherent difficulties combined with the overlap of some symptoms and even neuropathological features, present a challenging problem for research in the field. This has likely hampered progress in epidemiological studies of risk factors and preventative interventions, as well as genetic and biomarker research. Resource limitations in large epidemiologically studies mean that limited diagnostic criteria are often used, which can result in phenotypically heterogeneous disease states being grouped together, potentially resulting in misclassification bias. When biomarkers are identified for etiologically heterogeneous diseases, they will have low specificity for any utility in clinical practice, even if their sensitivity is high. We highlight several challenges in in the field which must be addressed for the success of future genetic and biomarker studies, and may be key to the development of the most effective treatments. As a step toward achieving this goal, defining the dementia as a biological construct based on the presence of specific pathological features, rather than clinical symptoms, will enable more precise predictive models. It has the potential to lead to the discovery of novel genetic variants, as well as the identification of individuals at heightened risk of the disease, even prior to the appearance of clinical symptoms.
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