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Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
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Genes for Alzheimer Dementia.

J Theuns, C Van Broeckhoven

    Acta Neuropsychiatrica
    |March 16, 2016
    PubMed
    Summary

    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).

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  • 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.