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Molecular genetics of early-onset Alzheimer’s disease revisited
Open accessAbstract
As the discovery of the Alzheimer's disease (AD) genes, APP, PSEN1, and PSEN2, in families with autosomal dominant early-onset AD (EOAD), gene discovery in familial EOAD came more or less to a standstill. Only 5% of EOAD patients are carrying a pathogenic mutation in one of the AD genes or a apolipoprotein E (APOE) risk allele ε4, most of EOAD patients remain unexplained. Here, we aimed at summarizing the current knowledge of EOAD genetics and its role in ongoing approaches to understand the biology of AD and disease symptomatology as well as developing new therapeutics. Next, we explored the possible molecular mechanisms that might underlie the missing genetic etiology of EOAD and discussed how the use of massive parallel sequencing technologies triggered novel gene discoveries. To conclude, we commented on the relevance of reinvestigating EOAD patients as a means to explore potential new avenues for translational research and therapeutic discoveries.
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“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 [2]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“These rare mutations cause the aggregation of amyloid proteins, leading to the progression of early onset AD.”
From Role of neuroinflammation in neurodegeneration development (2023) · cites this paper as [157]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“But it was until 1980s that three genes, including APP, PSEN1, and PSEN2, were found to be responsible for early onset AD.157”
From Role of neuroinflammation in neurodegeneration development (2023) · cites this paper as [157]
Experimental — accuracy not yet measuredIn the citing paper
“PSEN2 mutations are much rarer, with only around 30 mutations identified in ADAD families [2].”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [2]
In the citing paper
“To date, more than 50 highly penetrant mutations have been identified in APP [2].”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [2]
In the citing paper
“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 [2]
In the citing paper
“While mutations in these genes are the most well-studied mutations associated with EOAD, it is estimated that a significant portion of EOAD remains unexplained genetically [2].”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [2]
In the citing paper
“Gene duplications of APP are well-known to cause AD, with as many as 25 duplications of variable length associated with AD in EOAD families [2]”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [2]
In the citing paper
“The large variability in the age at onset of AD symptoms even among families who share common pathogenic mutations [31]”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [31]
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Self-citation
Metadata
- Authors
- Cacace, R., Sleegers, K., & Van Broeckhoven, C.
- Affiliations
- University of Antwerp (BE)
- Neurodegenerative Brain Diseases group Department of Molecular Genetics VIB Antwerp Belgium
- Venue
- Alzheimer's & Dementia
- Publisher
- Wiley
- Published
- 2016-03-23
- Volume
- 12
- Issue
- 6
- Pages
- 733-748
- ISSN
- 1552-5260 (ISSN-L)
- 1552-5279
- OpenAlex
- W2306696647
- Cited by
- 617
- References
- 167
- Citations by year
- 2026: 34 · 2025: 71 · 2024: 60 · 2023: 90 · 2022: 85 · 2021: 88 · 2020: 61 · 2019: 49 · 2018: 35 · 2017: 32 · 2016: 11
- FWCI
- 4.97
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Alzheimer s & Dementia (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Funders
- Fonds Wetenschappelijk Onderzoek
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Keywords
- early-onset Alzheimer's disease, familial Alzheimer's disease
- MeSH terms
- Alzheimer Disease, Apolipoproteins E, Humans, Models, Molecular, Molecular Biology, Mutation, Amyloid beta-Protein Precursor, Presenilin-1, Presenilin-2
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