|Title:||Prevalence and clinical characteristics of stroke patients with p.R544C NOTCH3 mutation in Taiwan||Authors:||SUNG-CHUN TANG
|Issue Date:||2019||Journal Volume:||6||Journal Issue:||1||Start page/Pages:||121-128||Abstract:||
Objective: Features of cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL) caused by NOTCH3 mutations vary between ethnicities and regions. In Taiwan, more than 70% of CADASIL patients carry the mutation hot spot of p.R544C. We investigated the prevalence of NOTCH3 p.R544C mutation in stroke patients in Taiwan. 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 NOTCH3 mutation is underdiagnosed in stroke patients in Taiwan, especially in those with small vessel occlusion and sibling history of stroke. ? 2018 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.
|URI:||https://scholars.lib.ntu.edu.tw/handle/123456789/467870||ISSN:||2328-9503||DOI:||10.1002/acn3.690||SDG/Keyword:||genomic DNA; Notch3 receptor; adult; Article; blood vessel occlusion; brain atherosclerosis; brain hemorrhage; brain ischemia; brain stem; CADASIL; cardioembolism; cerebellum; clinical assessment; cohort analysis; computer assisted tomography; coronary artery atherosclerosis; DNA extraction; embolism; female; gene; gene mutation; genotype; human; hypertension; major clinical study; male; middle aged; multicenter study; National Institutes of Health Stroke Scale; NOTCH3 gene; nuclear magnetic resonance imaging; outcome assessment; polymerase chain reaction; prevalence; prospective study; risk factor; stroke patient; thalamus; thromboembolism
|Appears in Collections:||醫學系|
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