ReviewInternational journal of molecular sciences2023
Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.
Review in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 48 citations in OpenAlex.
- Peripheral neuropathy as a presenting feature of familial early onset Alzheimer's disease: a rare clinical association.Acta neurologica Belgica · 2026Article
- Centralized Review of Alzheimer's Disease and Related Dementias Biomedical Repositories and Computational Methods.Bioengineering (Basel, Switzerland) · 2026Review
- The mechanisms and strategies for Alzheimer's disease prevention: An update.Acta pharmaceutica Sinica. B · 2026Review
- Spastic paraparesis linked to a rare presenilin-1 mutation.Neurogenetics · 2026Article
- Genetically Modified Primate Models for Brain Disorder Research.Neuroscience bulletin · 2026Review
- Autophagy Activators Normalize Aberrant Tau Proteostasis and Rescue Synapses in Human Familial Alzheimer's Disease iPSC-Derived Cortical Organoids.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- The relationship between amyloid-β peptide spectrum and the spastic paraparesis phenotype in autosomal dominant Alzheimer's disease.Alzheimer's research & therapy · 2025Article
- Precision Nutrition and Gut-Brain Axis Modulation in the Prevention of Neurodegenerative Diseases.Nutrients · 2025Review
- Novel Association of theJournal of clinical medicine · 2025Article
- The Association of Wnt Signaling Pathway Gene Variants, Blood Lipoproteins and Cognitive Function in Elderly People.Molecular neurobiology · 2025Article
- Case Report: Acute Psychiatric Behavioral Disturbance in a Patient with Presenilin 1 Gene Mutation Associated with Familial Alzheimer's Disease.Neurology and therapy · 2025Article
- A Review Article on Oxidative Stress Markers F2-Isoprostanes and Presenilin-1 in Alzheimer's Disease.Journal of pharmacy & bioallied sciences · 2025Review
- ANXA2 Protein and Its Role in Neurodegeneration Processes.Life (Basel, Switzerland) · 2025Review
- Amyloid-β and heart failure in Alzheimer's disease: the new vistas.Frontiers in medicine · 2025Review
- Identification and validation of biomarkers associated with mitochondrial dysfunction and ferroptosis in rat spinal cord injury.Frontiers in neurology · 2025Article
- Advancements in multi-omics research to address challenges in Alzheimer's disease: a systems biology approach utilizing molecular biomarkers and innovative strategies.Frontiers in aging neuroscience · 2025Review
- Evaluation of Verteporfin as a Photosensitizer With Anticancer Activity Via System Biology Tools.Journal of lasers in medical sciences · 2025Article
- Comprehensive medicinal chemistry survey highlights a portfolio of lead molecules for Alzheimer's disease therapy.Frontiers in chemistry · 2025Review
- Article
- Navigating the Alzheimer's Biomarker Landscape: A Comprehensive Analysis of Fluid-Based Diagnostics.Cells · 2024Review
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Presenilin 1 (PSEN1) is a part of the gamma secretase complex with several interacting substrates, including amyloid precursor protein (APP), Notch, adhesion proteins and beta catenin. PSEN1 has been extensively studied in neurodegeneration, and more than 300 PSEN1 mutations have been discovered to date. In addition to the classical early onset Alzheimer's disease (EOAD) phenotypes, PSEN1 mutations were discovered in several atypical AD or non-AD phenotypes, such as frontotemporal dementia (FTD), Parkinson's disease (PD), dementia with Lewy bodies (DLB) or spastic paraparesis (SP). For example, Leu113Pro, Leu226Phe, Met233Leu and an Arg352 duplication were discovered in patients with FTD, while Pro436Gln, Arg278Gln and Pro284Leu mutations were also reported in patients with motor dysfunctions. Interestingly, PSEN1 mutations may also impact non-neurodegenerative phenotypes, including PSEN1 Pro242fs, which could cause acne inversa, while Asp333Gly was reported in a family with dilated cardiomyopathy. The phenotypic diversity suggests that PSEN1 may be responsible for atypical disease phenotypes or types of disease other than AD. Taken together, neurodegenerative diseases such as AD, PD, DLB and FTD may share several common hallmarks (cognitive and motor impairment, associated with abnormal protein aggregates). These findings suggested that PSEN1 may interact with risk modifiers, which may result in alternative disease phenotypes such as DLB or FTD phenotypes, or through less-dominant amyloid pathways. Next-generation sequencing and/or biomarker analysis may be essential in clearly differentiating the possible disease phenotypes and pathways associated with non-AD phenotypes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.