ArticleNeurogenetics2022
Mutation spectrum and genotype-phenotype correlations in 157 Korean CADASIL patients: a multicenter study.
Article in Neurogenetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Prevalence, clinical characteristics, and risk factors of intracerebral haemorrhage in CADASIL: a case series and systematic review.Journal of neurology · 2024Pooled it
- Article
- Sex-Based Differences in Disease Burden and Phenotype in CADASIL: A Multicenter Study of 368 Korean Patients.Neurology. Genetics · 2026Article
- Genotype-phenotype correlations in a Scottish CADASIL cohort and comparison with sporadic small vessel disease.European stroke journal · 2026Article
- Association Between Vascular NOTCH3 Aggregation and Disease Severity in a CADASIL Cohort - Implications for NOTCH3 Variant-Specific Disease Prediction.Annals of neurology · 2025Article
- Changes in the prognosis of CADASIL over time: a 23-year study in 555 individuals.Journal of neurology, neurosurgery, and psychiatry · 2025Article
- Intracerebral hemorrhage in CADASIL.Journal of the Chinese Medical Association : JCMA · 2025Review
- Parkinsonism in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: Clinical Features and Biomarkers.Journal of stroke · 2025Article
- A Novel Mutation of the NOTCH3 Gene in A Young Patient Presenting with an Acute Stroke: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL).European journal of case reports in internal medicine · 2025Article
- CADASIL orFrontiers in neurology · 2025Review
- Association ofNeurology · 2024Article
- Progress to Clarify HowBiomolecules · 2024Review
- Most common NOTCH3 mutations causing CADASIL or CADASIL-like cerebral small vessel disease: A systematic review.Cerebral circulation - cognition and behavior · 2024Review
- Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction.Brain : a journal of neurology · 2023Article
- Phenotypic variability in 446 CADASIL patients: Impact of NOTCH3 gene mutation location in addition to the effects of age, sex and vascular risk factors.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2023Article
- Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations.CNS neuroscience & therapeutics · 2022Article
- Effect ofStroke · 2022Article
- Genotype and Phenotype Differences in CADASIL from an Asian Perspective.International journal of molecular sciences · 2022Review
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
CADASIL is an inherited disease caused by mutations in the NOTCH3 gene. We aimed to investigate the mutation and clinical spectrum, and genotype-phenotype correlations of Korean CADASIL patients. Samples from 492 clinically suspicious patients were collected from four hospitals. Sanger sequencing was performed to screen exons 2 to 25 of the NOTCH3 gene and variants of unknown significance (VUS) were analyzed using the ACMG guidelines. The medical records and MRI data were received from each hospital, for comprehensive analysis of genotype-phenotype correlations. Previously reported NOTCH3 variants were most commonly detected in exon 11 whereas exon 4 was the most common in European studies. The variants were detected equally between the EGFr domains 1-6 and 7-34, which was different from EGFr 1-6 predominant European studies. The average age-of-onset of patients with EGFr 1-6 variants were 4.81 ± 1.95 years younger than patients with EGFr 7-34 variants. Overall, it took Korean patients 51.2 ± 10 years longer to develop CADASIL in comparison to European patients. The most common mutation was p.R544C, which was associated with a later onset of stroke and a significant time-to-event curve difference. We verified four atypical phenotypes of p.R544C that had been reported in previous studies. Eight novel variants in 15 patients were detected but remained a VUS based on the ACMG criteria. This study reported a different EGFr distribution of Korean patients in comparison to European patients and its correlation with a later age-of-onset. An association between a later onset of stroke/TIA and p.R544C was observed.
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