Cited by 1,029Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchNeuroinflammation and Neurodegeneration Mechanisms

Review Article: Genetics of Alzheimer Disease

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Bekris, Lynn M., Yu, Chang-En, Bird, Thomas D., Tsuang, Debby W.·2010·Journal of Geriatric Psychiatry and Neurology

Abstract

Alzheimer disease (AD) is the most common causes of neurodegenerative disorder in the elderly individuals. Clinically, patients initially present with short-term memory loss, subsequently followed by executive dysfunction, confusion, agitation, and behavioral disturbances. Three causative genes have been associated with autosomal dominant familial AD (APP, PSEN1, and PSEN2) and 1 genetic risk factor (APOEε4 allele). Identification of these genes has led to a number of animal models that have been useful to study the pathogenesis underlying AD. In this article, we provide an overview of the clinical and genetic features of AD.

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Crossref · 10.1177/0891988710383571

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176 of 176 references verified0 citation errors · 0 not checkable

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  • Individuals with dominantly inherited Alzheimer's disease represent an estimated 1% or less of people with Alzheimer's who develop the disease from mutations to any of three specific genes.

    “Individuals with DIAD represent the estimated 1% or less of people with Alzheimer's who develop the disease as a result of mutations to any of three specific genes.95”

    From 2023 Alzheimer's disease facts and figures (2023) · cites this paper as [95]

  • The main genetic risk factor in sporadic Alzheimer's disease is the APOE gene.

    “the main genetic risk factor in SAD is the APOE gene [91,92,93,94].”
  • An estimated 1% or less of people living with Alzheimer's dementia develop the disease as a result of mutations to any of three specific genes.

    “An estimated 1% or less of people living with Alzheimer's dementia develop the disease as a result of mutations to any of three specific genes.”

    From 2024 Alzheimer's disease facts and figures (2024) · cites this paper as [102]

  • A majority of ADAD families carry a pathogenic mutation in one of three genes: APP, PSEN1, or PSEN2.

    “A majority of ADAD families carry a pathogenic mutation in one of three genes: APP, presenilin 1 (PSEN1), or presenilin 2 (PSEN2) [2, 33].”

    From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [33]

  • Autosomal dominant Alzheimer's disease (ADAD) is very rare, accounting for less than 1% of all cases of Alzheimer's disease.

    “ADAD is very rare, accounting for less than <1% of all cases of AD [2, 31–33]”

    From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [33]

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Research works printed but not linked: 1

  1. [99]Wolfe MS When loss is gain: reduced presenilin proteolytic function leads to increased Abeta42/Abeta40. Talking Point on the role of presenilin mutations in Alzheimer disease EMBO Rep 2007 8 2 136 140 17268504 PMC1796780

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Authors
Bekris, L. M., Yu, C.-E., Bird, T. D., & Tsuang, D. W.
Affiliations
  • University of Washington (US)
  • VA Puget Sound Health Care System (US)
Corresponding author
Tsuang, Debby W.
Venue
Journal of Geriatric Psychiatry and Neurology
Published
2010-11-02
Volume
23
Issue
4
Pages
213-227
ISSN
  • 0891-9887 (ISSN-L)
  • 1552-5708
OpenAlex
W2407468727
Cited by
1,029
References
176
Citations by year
2026: 33 · 2025: 67 · 2024: 92 · 2023: 99 · 2022: 102 · 2021: 100 · 2020: 89 · 2019: 80 · 2018: 59 · 2017: 42 · 2016: 48 · 2015: 41 · 2014: 40 · 2013: 49 · 2012: 39
FWCI
4.27
Type
journal article
Language
en
Open access
Locations
  • Journal of Geriatric Psychiatry and Neurology (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
National Institute on Aging (AG-005136, T32AG000258, R00AG034214, K99AG034214, P50AG005136, U19AG010483)
Topics
  • Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
  • Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
  • Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
Keywords
Alzheimer's disease, familial Alzheimer's disease, APP gene, presenilin 1, presenilin 2, APOE ε4, genetic risk factors, neurodegeneration
MeSH terms
Aged, Aged, 80 and over, Aging, Alleles, Alzheimer Disease, Animals, Apolipoproteins E, Disease Models, Animal, Genetic Counseling, Genetic Testing, Genotype, Humans, Risk Factors, Prevalence, Amyloid beta-Protein Precursor, Genetic Predisposition to Disease, Presenilin-1, Presenilin-2

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