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Updated: Mar 24, 2026

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
Published on: January 9, 2020
Alzheimer disease (AD) is a growing dementia health concern with no current effective therapies. Definitive diagnosis requires post-mortem examination for senile plaques and neurofibrillary tangles, though genetics also play a role.
Area of Science:
- Neurology
- Geriatrics
- Genetics
Background:
- Alzheimer disease (AD) is the most prevalent form of dementia in the elderly.
- The increasing elderly population in developed nations exacerbates the AD health problem.
- Currently, no effective therapies exist for Alzheimer disease.
Purpose of the Study:
- To summarize the current understanding of Alzheimer disease diagnosis and contributing factors.
- To highlight the diagnostic criteria and pathological hallmarks of AD.
- To underscore the significance of both age and genetic factors in AD development.
Main Methods:
- Clinical diagnosis relies on neurological examination, neuropsychological testing, and brain imaging.
- Definitive diagnosis is confirmed post-mortem by identifying senile plaques (SPs) and neurofibrillary tangles (NFTs).
- Pathological hallmarks include extracellular amyloid P deposits (SPs) and intraneural paired helical filaments of hyperphosphorylated tau (NFTs).
Main Results:
- Clinical diagnostic reliability reaches 90% using current methods.
- Post-mortem analysis reveals SPs and NFTs as definitive markers for Alzheimer disease.
- Population and family studies indicate substantial genetic contributions to AD expression.
Conclusions:
- Alzheimer disease presents a significant and growing challenge in aging populations.
- Accurate diagnosis involves clinical assessment and definitive post-mortem pathological confirmation.
- Both advanced age and genetic predisposition are key factors in the development of Alzheimer disease.
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