ArticleGeneral psychiatry2019
ACE gene missense mutation in a case with early-onset, rapid progressing dementia.
Article in General psychiatry, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Dissecting genetic variant contributions to neurodegenerative disorders through targeted gene sequencing in a Sicilian population.Scientific reports · 2026Article
- Missense mutation of angiotensin converting enzyme gene in an Alzheimer's disease patient: a case report.Frontiers in neuroscience · 2024Article
- Article
- SARS-CoV-2 infection of human brain microvascular endothelial cells leads to inflammatory activation through NF-κB non-canonical pathway and mitochondrial remodeling.bioRxiv : the preprint server for biology · 2022Article
- SARS-CoV-2 infection of human brain microvascular endothelial cells leads to inflammatory activation through NF-κB non-canonical pathway and mitochondrial remodeling.Research square · 2022Article
- Neuroinflammation in perioperative neurocognitive disorders: From bench to the bedside.CNS neuroscience & therapeutics · 2022Review
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The population of early-onset Alzheimer's disease (EOAD) accounts for 1%-2% of the total population of Alzheimer's disease, and genetic mutations are more common in EOAD. The first symptom of the patient in the present case report was the decline in memories of recent events, and the disease progressed rapidly in the following 2 years. Genetic testing has revealed the presence of genetic mutations (c.A479G, p.N160S) of ACE, which causes the 160th codon of the ACE protein to change from aspartic acid to serine, and at the same time genotype of apolipoprotein E (APOE) is ɛ3/ɛ4. We think that this patient carries the mutation type of the sensitive gene ACE and the risk gene APOE of Alzheimer's disease, and this is the reason why the disease progressed rapidly. Moreover, we discussed ACE genetic mutation's meaning in EOAD progression.
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