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Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.
Features include always present findings: Memory problems (memory impairment), Cerebral amyloid angiopathy, Temporal cortical atrophy, and Lack of interest or motivation (apathy); and common findings: Confusion, Generalized-onset seizure, Apraxia, and Anomic aphasia and others. 18 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 9 | Memory problems (memory impairment), Generalized-onset seizure, Anomic aphasia |
PSEN2 function has not been fully characterized.
Alzheimer disease 4 is associated with mutations in the PSEN2 gene on chromosome 1.
Genetic testing for PSEN2 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 4 always present features, 9 common features.
3 clinical trials registered, 2 recruiting. Interventions under study include other interventions, drug therapy, and medical devices. Pipeline includes 1 PHASE1, 1 NA. Research is sponsored by a mix of industry and academic institutions.
138 publications have been identified in PubMed for Alzheimer disease 4. Research spans Review / Meta-Analysis (69%), Other (14%), and Basic Science / Preclinical (10%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 95 |
Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 10:51 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Alzheimer disease 4
Muscles | 1 | Temporal cortical atrophy |
Age of onset: middle age, later in life.
Other research | 20 | 14% |
Laboratory research | 14 | 10% |
Disease patterns and progression | 3 | 2% |
New treatment approaches | 3 | 2% |
Patient case studies | 2 | 1% |
Clinical study results | 1 | 1% |
Katsigianni S (2026). [PMID: 42118364](https://pubmed.ncbi.nlm.nih.gov/42118364/). *Mol Neurobiol*. [Review / Meta-Analysis]
Oliveira MC (2026). [PMID: 42043765](https://pubmed.ncbi.nlm.nih.gov/42043765/). *Alzheimers Dement*. [Review / Meta-Analysis]
Wiatrak B (2026). [PMID: 41635245](https://pubmed.ncbi.nlm.nih.gov/41635245/). *Adv Clin Exp Med*. [Other]
Boles J (2026). [PMID: 41785366](https://pubmed.ncbi.nlm.nih.gov/41785366/). *Science*. [Other]
Robinson-Cooper L (2026). [PMID: 41380794](https://pubmed.ncbi.nlm.nih.gov/41380794/). *Exp Neurol*. [Basic Science / Preclinical]
Neha (2026). [PMID: 41784914](https://pubmed.ncbi.nlm.nih.gov/41784914/). *Curr Med Sci*. [Review / Meta-Analysis]
Chinnathambi S (2026). [PMID: 42134889](https://pubmed.ncbi.nlm.nih.gov/42134889/). *Adv Protein Chem Struct Biol*. [Review / Meta-Analysis]
He H (2026). [PMID: 41654144](https://pubmed.ncbi.nlm.nih.gov/41654144/). *Ageing Res Rev*. [Review / Meta-Analysis]
Chiotis K (2026). [PMID: 41290365](https://pubmed.ncbi.nlm.nih.gov/41290365/). *J Nucl Med*. [Review / Meta-Analysis]
Soni U (2026). [PMID: 41796723](https://pubmed.ncbi.nlm.nih.gov/41796723/). *Prog Neuropsychopharmacol Biol Psychiatry*. [Review / Meta-Analysis]