Journal
ANNUAL REVIEW OF PATHOLOGY: MECHANISMS OF DISEASE, VOL 16, 2021
Volume 16, Issue -, Pages 351-376Publisher
ANNUAL REVIEWS
DOI: 10.1146/annurev-pathmechdis-012419-032551
Keywords
Alzheimer's disease; neurodegeneration; amyloid; tau; genetics; aging
Categories
Funding
- National Institutes of Health [AG047366, NS062684, AG57707, AG053983, AG005136, AG065426]
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Alzheimer's disease is a pervasive, relentlessly progressive neurodegenerative disorder that requires autopsy confirmation for diagnosis. Significant progress has been made in understanding the disease, largely due to research on genetic pathways.
Alzheimer's disease (AD) is a pervasive, relentlessly progressive neurodegenerative disorder that includes both hereditary and sporadic forms linked by common underlying neuropathologic changes and neuropsychological manifestations. While a clinical diagnosis is often made on the basis of initial memory dysfunction that progresses to involve multiple cognitive domains, definitive diagnosis requires autopsy examination of the brain to identify amyloid plaques and neurofibrillary degeneration. Over the past 100 years, there has been remarkable progress in our understanding of the underlying pathophysiologic processes, pathologic changes, and clinical phenotypes of AD, largely because genetic pathways that include but expand beyond amyloid processing have been uncovered. This review discusses the current state of understanding of the genetics of AD with a focus on how these advances are both shaping our understanding of the disease and informing novel avenues and approaches for development of potential therapeutic targets.
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