ArticleAnnals of clinical and translational neurology2019
Prevalence and clinical characteristics of stroke patients with p.R544C
Article in Annals of clinical and translational neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Prevalence, clinical characteristics, and risk factors of intracerebral haemorrhage in CADASIL: a case series and systematic review.Journal of neurology · 2024Pooled it
- Prognostic Significance ofNeurology. Genetics · 2026Article
- Prevalence and Characteristics of Pathogenic Variants in Taiwanese Patients With Cerebral Small Vessel Disease.Neurology. Genetics · 2025Article
- Genetic and imaging features of CADASIL patients with acute ischemic stroke.Scientific reports · 2025Article
- Review
- The Roles of NOTCH3 p.R544C and Thrombophilia Genes in Vietnamese Patients With Ischemic Stroke: Study Involving a Hierarchical Cluster Analysis.JMIR bioinformatics and biotechnology · 2024Article
- The cysteine-altering p.R544C variant in the NOTCH3 gene is a probable candidate for blood pressure and relevant traits in the Taiwan Biobank.Journal of neurology · 2023Article
- Adult-Onset Genetic Leukoencephalopathies With Movement Disorders.Journal of movement disorders · 2023Article
- Update on the Epidemiology, Pathogenesis, and Biomarkers of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.Journal of clinical neurology (Seoul, Korea) · 2023Review
- Prominent juxtacortical white matter lesion hallmarksStroke and vascular neurology · 2022Article
- Clinical Characteristics and Gene Mutation Analysis of Poststroke Epilepsy.Contrast media & molecular imaging · 2022Article
- Article
- Mutation spectrum and genotype-phenotype correlations in 157 Korean CADASIL patients: a multicenter study.Neurogenetics · 2022Article
- Etiology and risk factors of intracranial hemorrhage and ischemic stroke in young adults.Journal of the Chinese Medical Association : JCMA · 2021Article
- Article
- Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese.NPJ genomic medicine · 2021Article
- Mutations inFrontiers in molecular biosciences · 2021Article
- Imaging-based pregenetic screening for NOTCH3 p.R544C mutation in ischemic stroke in Taiwan.Annals of clinical and translational neurology · 2020Article
- Plasma neurofilament light chain and glial fibrillary acidic protein predict stroke in CADASIL.Journal of neuroinflammation · 2020Article
- Novel Characteristics of Race-Specific Genetic Functions in Korean CADASIL.Medicina (Kaunas, Lithuania) · 2019Article
Corrections and comments
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Authors and funding
16 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective: Features of cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy Methods: This prospective, multicenter study recruited acute stroke patients within 10 days of symptom onset. The p.R544C mutation was identified by polymerase chain reaction with confronting two-pair primers and sequencing. Clinical parameters, vascular risk factors, stroke subtypes, and stroke outcomes were analyzed. Results: Of the 1970 stroke patients (mean age 61.1 ± 13.6 years, male 69.5%) included, 1705 (86.5%) had ischemic stroke and 265 (13.5%) had intracerebral hemorrhage. The prevalence of p.R544C in the study population was 2.8% (95% confidence interval [CI] = 2.1-3.5%). The prevalence was highest in patients with small vessel occlusion type of ischemic stroke (5.6%), followed by intracerebral hemorrhage (5.3%), and infarct of undetermined etiology (2.7%), and was low in patients with cardioembolism (0.8%) and large artery atherosclerosis (0.7%). All p.R544C patients with intracerebral hemorrhage were nonlobar hemorrhage. Sibling history of stroke (odds ratio [OR] = 4.50, 95% CI = 1.67-12.14 in ischemic stroke; OR = 6.03, 95% CI = 1.03-35.47 in intracerebral hemorrhage, respectively) and small vessel occlusion (OR, 4.03, 95% CI, 1.26-12.92) were significantly associated with p.R544C. Interpretation: p.R544C
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