Cited by 256Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchNeuroinflammation and Neurodegeneration Mechanisms

Genetics of familial and sporadic Alzheimer s disease

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Piaceri, Irene·2013·Frontiers in Bioscience

Abstract

Alzheimer's disease (AD) is an age-related progressive neurodegenerative disorder. A majority of cases manifest as a late onset sporadic form but genetically the disease is divided into familial cases and sporadic cases. The familial form is due to mutations in three major genes (amyloid precursor protein (APP) gene, presenilin1 (PSEN1) gene and presenilin 2 (PSEN2) gene). In contrast, many genetic and environmental factors may contribute to determining the sporadic AD form. Despite many years of research and great progress in the knowledge of the molecular pathogenesis of AD, a full understanding of the etiology of the sporadic form is still not yet in reach. Genome-wide association studies (GWASs) revealed the genetic complexity of the disease and recent studies suggested that epigenetic mechanisms may play an essential role in disease development. This review provides an overview of all the milestones in AD genetic research, as well as the new and promising approach, in order to better understand the genetic profile for predicting the risk of AD.

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Crossref · 10.2741/e605

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Authors
Piaceri, I.
Affiliations
University of Florence (IT)
Corresponding author
Piaceri, Irene
Venue
Frontiers in Bioscience
Publisher
IMR Press
Published
2013
Volume
E5
Issue
1
Pages
167-177
ISSN
  • 1944-7892 (ISSN-L)
  • 1945-0494
  • 1945-0508
OpenAlex
W2031880534
Cited by
256
References
67
Citations by year
2026: 14 · 2025: 20 · 2024: 31 · 2023: 24 · 2022: 31 · 2021: 24 · 2020: 21 · 2019: 15 · 2018: 11 · 2017: 12 · 2016: 14 · 2015: 12 · 2014: 21 · 2013: 5
FWCI
8.15
Type
journal article
Language
en
Licence
other-oa
Locations
  • Frontiers in Bioscience-Elite (publishedVersion)
  • PubMed (publishedVersion)
  • Florence Research (University of Florence) (submittedVersion)
  • INFM-OAR (INFN Catania) (submittedVersion, other-oa)
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, sporadic Alzheimer's disease, amyloid precursor protein gene, presenilin 1, presenilin 2, genetic mutations, genome-wide association study, epigenetics, disease risk prediction, neurodegeneration
MeSH terms
Alzheimer Disease, Apolipoproteins E, Humans, Models, Genetic, Mutation, Amyloid beta-Protein Precursor, Neurofibrillary Tangles, Genetic Predisposition to Disease, Presenilins, Genome-Wide Association Study

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