ReviewInternational journal of molecular sciences2022
Genotype and Phenotype Differences in CADASIL from an Asian Perspective.
Review in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 2 syntheses or guidelines pooled it, 18 citations in OpenAlex.
- Phenotypes Associated with NOTCH3 Cysteine-Sparing Mutations in Patients with Clinical Suspicion of CADASIL: A Systematic Review.International journal of molecular sciences · 2024Pooled it
- Prevalence, clinical characteristics, and risk factors of intracerebral haemorrhage in CADASIL: a case series and systematic review.Journal of neurology · 2024Pooled it
- The international society of vascular behavioural and cognitive disorders: highlights from VasCog 2025 in the UK.Cerebral circulation - cognition and behavior · 2026Article
- Study of the NOTCH3 Gene Reveals the First CADASIL Cases in Crete and a Novel Pathogenic Variant.Brain and behavior · 2025Article
- Genetic and imaging features of CADASIL patients with acute ischemic stroke.Scientific reports · 2025Article
- Reduced myelin contributes to cognitive impairment in patients with monogenic small vessel disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Signaling pathways and molecular mechanisms involved in the onset and progression of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); a focus on Notch3 signaling.The journal of headache and pain · 2025Review
- Distinct neurological phenotypes associated with biallelic loss of NOTCH3 function: evidence for recessive inheritance.Molecular biology reports · 2024Article
- Detecting a NovelMolecular syndromology · 2024Article
- Perry Disease: Bench to Bedside Circulation and a Team Approach.Biomedicines · 2024Article
- The protocol for an observational Australian cohort study of CADASIL: The AusCADASIL study.Cerebral circulation - cognition and behavior · 2024Article
- A multicenter, single-arm, phase II clinical trial of adrenomedullin in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.Cerebral circulation - cognition and behavior · 2024Article
- The CADA-MRIT: An MRI Inventory Tool for Evaluating Cerebral Lesions in CADASIL Across Cohorts.Neurology · 2023Article
- Novel grading system for CADASIL severity: A multicenter cross-sectional study.Cerebral circulation - cognition and behavior · 2023Article
- Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebral small-vessel disease caused by mutations in the NOTCH3 gene. Classical pathogenic mechanisms are associated with cysteine gain or loss, but recent studies suggest that cysteine-sparing mutations might have a potential role as a pathogen. In comparison with CADASIL patients in Western countries, there are several differences in Asian patients: (1) prevalent locus of NOTCH3 mutations (exons 2-6 [particularly exon 4] vs. exon 11), (2) age at symptom onset, (3) prevalence of cerebral microbleeds and hemorrhagic stroke, (4) clinical symptoms, and (5) severity of white matter hyperintensities and typical involvement of the anterior temporal pole in magnetic resonance imaging. Both ethnicity and founder effects contribute to these differences in the clinical NOTCH3 spectrum in different cohorts. More functional investigations from diverse races are needed to clarify unknown but novel variants of NOTCH3 mutations. This review may broaden the spectrum of NOTCH3 variants from an Asian perspective and draw attention to the hidden pathogenic roles of NOTCH3 variants.
Indexed as
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What OpenQuestion holds
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.