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Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.
Features include sometimes findings: Disturbed sensory perception. 19 total HPO annotations.
Alzheimer disease 3 is associated with mutations in the PSEN1 gene on chromosome 14.
Diagnosis
Genetic testing for PSEN1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Alzheimer disease 3 has been reported in the published literature.
Research Landscape
Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.
2 clinical trials registered, 1 recruiting. Interventions under study include drug therapy, other interventions, and medical devices. Pipeline includes 1 PHASE1, 1 NA. Research is sponsored by a mix of industry and academic institutions.
5 publications have been identified in PubMed for Alzheimer disease 3. Research spans Basic Science / Preclinical (40%), Epidemiology / Natural History (40%), and Diagnostic / Biomarker (20%).
Recent Publications
Sepulveda-Falla D (2025). [PMID: 39656832](https://pubmed.ncbi.nlm.nih.gov/39656832/). *Journal of neuropathology and experimental neurology*. [Epidemiology / Natural History]
Johansson C (2024). [PMID: 39322953](https://pubmed.ncbi.nlm.nih.gov/39322953/). *Alzheimer's research & therapy*. [Diagnostic / Biomarker]
Naumenko N (2024). [PMID: 38851626](https://pubmed.ncbi.nlm.nih.gov/38851626/). *Journal of molecular and cellular cardiology*. [Basic Science / Preclinical]
Li M (2024). [PMID: 38973166](https://pubmed.ncbi.nlm.nih.gov/38973166/). *Alzheimer's & dementia : the journal of the Alzheimer's Association*. [Basic Science / Preclinical]
Data assembled from 6 of 12 sources · Last updated Nov 3, 2026, 8:26 AM UTC
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
→Are any of the 2 active clinical trials a good fit for my situation?
→Should I pursue genetic testing for PSEN1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?
FAQ
Frequently Asked Questions
Common questions about Alzheimer disease 3
Alzheimer disease 3 is an early-onset form of Alzheimer’s disease, meaning that symptoms start before the age of 65. It is a rare condition that is linked to changes in a specific gene, which affects the brain over time.
This form of the disease is associated with mutations in the PSEN1 gene. Although details about the range of symptoms are not extensively described in the provided sources, the genetic basis of this form of Alzheimer’s disease supports its classification as a familial condition.
Information about symptoms is currently limited for this condition.
Alzheimer disease 3 is caused by mutations in the PSEN1 gene. These genetic changes can lead to early onset Alzheimer’s disease, meaning that symptoms may appear before the age of 65. The connection between the PSEN1 gene and the disease highlights the role genetics play in the development of this condition. Associated genes include PSEN1.
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Yaqrit is a clinical-stage biotechnology company developing treatments in this area. 🤝 London-based Trigeminal Neuralgia Institute has launched to improve care for patients. The Trigeminal Neuralgia Institute has launched following a fundraising and launch event.. The UK charity, registered number 1204273, aims to improve understanding of trigeminal neuralgia and ensure every patient can access diagnosis and multidisciplinary care. Trigeminal neuralgia is a rare... Yaqrit is a clinical-stage biotechnology company developing treatments in this area. 🤝 London-based Trigeminal Neuralgia Institute has launched to improve care for patients. The Trigeminal Neuralgia Institute has launched following a fundraising and launch event.. The UK charity, registered number 1204273, aims to improve understanding of trigeminal neuralgia and ensure every patient can access diagnosis and multidisciplinary care. Trigeminal neuralgia is a rare, long-term condition causing sudden, recurring episodes of facial pain, often triggered by light touch, and is estimated to affect around 45,000 people in the UK. In a mouse model of HER2+/FAP+ gastric tumours progressed after Enhertu, AVA6103 showed superior disease control. First efficacy data are expected in H1 2027. 📖 London-based Parkwalk has revealed £1.56bn invested into UK spinouts in H1 2026. Parkwalk, in partnership with IP Group and Beauhurst, has published its Equity Investment into Spinouts 2026 report. The UK Dementia Research Institute and Alzheimer’s Research UK have launched AD-SMART, a national trial that could cut years from testing Alzheimer’s treatments. It runs in partnership with the National Institute for Health and Care Research, the Medical Research Council and Health Data Research UK, with ongoing funding from the UK government. The Gatsby Charitable Foundation and Wellcome Trust have renewed funding for neuroscience and AI research at UCL, committing £112.5 million over five years. The money will sustain the Gatsby Computational Neuroscience Unit and the Sainsbury Wellcome Centre for Neural Circuits and Behaviour, which work together in a shared building to study how brains and machines compute, learn and behave. The renewal continues a partnership dating to 1998, when Lord Sainsbury funded the Gatsby Unit as one of the first places to combine computational neuroscience and machine learning.
Image http www abnewswire com pressreleases wp content uploads 2026 10 2026 A completed acquisition an AI platform launch cancer immunotherapy research and laboratory milestones highlight five companies pursuing different paths toward growth DALLAS Texas October 13 2026 Alaunos Therapeutics ... Press release - ABNewswire - 5 Biotech Stocks' TCRT, IGC, PDSB, PFAI, Acquisition, Alzheimer's, Cardio and Cancer Research Milestones - published on openPR.com DALLAS, Texas, October 13, 2026 Alaunos Therapeutics (NASDAQ: TCRT), IGC Pharma (NYSE American: IGC), PDS Biotechnology (NASDAQ: PDSB), Pinnacle Food Group (NASDAQ: PFAI) and VivoSim Labs (NASDAQ: VIVS) are advancing initiatives across cardiopulmonary disease, Alzheimer's care, cancer immunotherapy, recombinant protein production and predictive toxicology. Alaunos Therapeutics: Velaris Acquisition Expands Cardiopulmonary Pipeline Alaunos Therapeutics, Inc. (NASDAQ: TCRT) announced the completion of its acquisition of Velaris Therapeutics, Inc., a privately held biotechnology company developing potential treatments for pulmonary arterial hypertension (PAH) and related cardiopulmonary diseases. The launch expands its AI strategy, while deployment agreements, validation and revenue generation remain developments to watch. PDS Biotechnology: Cancer Research Adds Clinical and Peer-Reviewed Visibility PDS Biotechnology Corporation (NASDAQ: PDSB) announced an upcoming virtual expert event featuring Jonathan M.
