Molecular genetics of early-onset Alzheimer’s disease revisited

Cacace, Rita; Sleegers, Kristel; Van Broeckhoven, Christine

doi:10.1016/j.jalz.2016.01.012

Cited by 617Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchAmyotrophic Lateral Sclerosis Research

Molecular genetics of early-onset Alzheimer’s disease revisited

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Cacace, Rita, Sleegers, Kristel, Van Broeckhoven, Christine·2016·Alzheimer's & Dementia

DOI 10.1016/j.jalz.2016.01.012

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Abstract

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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These rare mutations cause the aggregation of amyloid proteins, leading to the progression of early onset AD.
“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]
Section 3 (“The amyloid cascade”; page not supplied) says APP and presenilin mutations are predicted to alter amyloid-beta production, triggering aggregation and contributing to AD. The claim presents this proposed mechanism as an established cause of early-onset AD progression, whereas the paper says the amyloid cascade hypothesis has been both supported and questioned. (LLM, conf=0.84)
Experimental — accuracy not yet measured
Three genes, APP, PSEN1, and PSEN2, are responsible for early onset AD.
“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]
Section 2.1 identifies APP, PSEN1, and PSEN2 as causal early-onset AD genes, but the cited discovery papers in the References date their identification to 1991 and 1995, not the 1980s. Section 2.2 also says mutations in these genes explain only 5%–10% of early-onset AD patients, so they do not account for early-onset AD generally. Page numbers are unavailable for these passages. (LLM, conf=0.90)
Experimental — accuracy not yet measured
PSEN2 mutations are much rarer, with only around 30 mutations identified in ADAD families.
“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]
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 [2]
More than 50 highly penetrant mutations have been identified in APP.
“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]

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“[68,69] presence of positive family history–and earlier AAO [12,70,71] [70–73] [74] osity and highest in presence of positive family history [75] [76] by positive family history [77]”
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Authors: Cacace, R., Sleegers, K., & Van Broeckhoven, C.
Affiliations: University of Antwerp (BE)
Neurodegenerative Brain Diseases group Department of Molecular Genetics VIB Antwerp Belgium
ORCID: Cacace, Rita
Sleegers, Kristel
Venue: Alzheimer's & Dementia
Publisher: Wiley
Published: 2016-03-23
Volume: 12
Issue: 6
Pages: 733-748
ISSN: 1552-5260 (ISSN-L)
1552-5279
DOI: 10.1016/j.jalz.2016.01.012
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: cc-by-nc-nd
creativecommons.org/licenses/by-nc-nd/4.0/ (vor)
Locations: Alzheimer s & Dementia (publishedVersion, cc-by-nc-nd)
PubMed (publishedVersion)
Funders: Fonds Wetenschappelijk Onderzoek
Topics: Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
Health Sciences › Medicine › 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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Molecular genetics of early-onset Alzheimer’s disease revisited

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