ReviewThe journal of prevention of Alzheimer's disease2019
Biological and Cognitive Markers of Presenilin1 E280A Autosomal Dominant Alzheimer's Disease: A Comprehensive Review of the Colombian Kindred.
Review in The journal of prevention of Alzheimer's disease, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
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Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Virtual Reality and Serious Videogame-Based Instruments for Assessing Spatial Navigation in Alzheimer's Disease: A Systematic Review of Psychometric Properties.Neuropsychology review · 2025Pooled it
- NavegApp, a serious game for assessing spatial cognition: Diagnostic accuracy in preclinical and prodromal Alzheimer's disease.PLOS digital health · 2026Article
- Long-term forgetting, sleep, and tau in autosomal-dominant Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Religious stress coping is associated with lower entorhinal tau pathology and better memory performance in autosomal dominant Alzheimer's disease.Journal of Alzheimer's disease : JAD · 2025Article
- Connectome-based predictive modeling of brain pathology and cognition in autosomal dominant Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Investigating the Aβ and tau pathology in autosomal dominant Alzheimer's disease: insights from hybrid PET/MRI and network mapping.Alzheimer's research & therapy · 2025Article
- Comorbidities in early-onset sporadic versus presenilin-1 mutation-associated Alzheimer disease dementia: Evidence for dependency on Alzheimer disease neuropathological changes.Journal of neuropathology and experimental neurology · 2025Article
- Connectome-based predictive modeling of brain pathology and cognition in Autosomal Dominant Alzheimer's Disease.medRxiv : the preprint server for health sciences · 2024Article
- Early molecular events of autosomal-dominant Alzheimer's disease in marmosets with PSEN1 mutations.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Associations of category fluency clustering performance withJournal of the International Neuropsychological Society : JINS · 2024Article
- Cognitive Outcomes in Autosomal-Dominant Alzheimer's Disease: A Comprehensive Review from a Colombian Kindred with the Presenilin-1 E280A Mutation.Journal of Alzheimer's disease : JAD · 2024Review
- The MAPP Room Memory Test: Examining Contextual Memory Using a Novel Computerized Test in Cognitively-Unimpaired Individuals with Autosomal Dominant Alzheimer's Disease.The journal of prevention of Alzheimer's disease · 2024Article
- Association of Pathologic and Volumetric Biomarker Changes With Cognitive Decline in Clinically Normal Adults.Neurology · 2023Article
- Familial Alzheimer's disease-associated PSEN1 mutations affect neurodevelopment through increased Notch signaling.Stem cell reports · 2023Article
- Plasma p-tau217 predicts in vivo brain pathology and cognition in autosomal dominant Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2023Article
- A public resource of baseline data from the Alzheimer's Prevention Initiative Autosomal-Dominant Alzheimer's Disease Trial.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2023Article
- Metal-Organic Frameworks as Sensors for Human Amyloid Diseases.ACS sensors · 2023Review
- New Pathways Identify Novel Drug Targets for the Prevention and Treatment of Alzheimer's Disease.International journal of molecular sciences · 2023Review
- Memory for Semantically Related Objects Differentiates Cognitively Unimpaired Autosomal Dominant Mutation Carriers from Non-Carrier Family Members.The journal of prevention of Alzheimer's disease · 2023Article
- Regulation of the proteostasis network by the neuronal system.Frontiers in molecular biosciences · 2023Review
Corrections and comments
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Authors and funding
19 authors.
Funding
Abstract
The study of individuals with autosomal dominant Alzheimer's disease affords one of the best opportunities to characterize the biological and cognitive changes of Alzheimer's disease that occur over the course of the preclinical and symptomatic stages. Unifying the knowledge gained from the past three decades of research in the world's largest single-mutation autosomal dominant Alzheimer's disease kindred - a family in Antioquia, Colombia with the E280A mutation in the Presenilin1 gene - will provide new directions for Alzheimer's research and a framework for generalizing the findings from this cohort to the more common sporadic form of Alzheimer's disease. As this specific mutation is virtually 100% penetrant for the development of the disease by midlife, we use a previously defined median age of onset for mild cognitive impairment for this cohort to examine the trajectory of the biological and cognitive markers of the disease as a function of the carriers' estimated years to clinical onset. Studies from this cohort suggest that structural and functional brain abnormalities - such as cortical thinning and hyperactivation in memory networks - as well as differences in biofluid and in vivo measurements of Alzheimer's-related pathological proteins distinguish Presenilin1 E280A mutation carriers from non-carriers as early as childhood, or approximately three decades before the median age of onset of clinical symptoms. We conclude our review with discussion on future directions for Alzheimer's disease research, with specific emphasis on ways to design studies that compare the generalizability of research in autosomal dominant Alzheimer's disease to the larger sporadic Alzheimer's disease population.
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