Stroke Center and Department of Neurology National Taiwan University Hospital Taipei Taiwan.
School of Public Health College of Public Health Taipei Medical University Taipei Taiwan.
Ann Clin Transl Neurol. 2018 Nov 20;6(1):121-128. doi: 10.1002/acn3.690. eCollection 2019 Jan.
Features of cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy CADASIL) caused by 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 p.R544C mutation in stroke patients in Taiwan.
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.
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.
p.R544C mutation is underdiagnosed in stroke patients in Taiwan, especially in those with small vessel occlusion and sibling history of stroke.
载脂蛋白 E 基因多态性与脑梗死复发的相关性
载脂蛋白 E（APOE）基因ε 4 等位基因是缺血性卒中的重要危险因素，但其与复发性卒中的相关性存在争议。
我们对 2011 年 1 月至 2016 年 12 月期间在我院神经内科住院的 458 例缺血性卒中患者进行了前瞻性队列研究。在发病后 3 个月内，对所有患者进行了电话随访，以评估复发性卒中的发生情况。采用单因素和多因素 Cox 回归分析来评估 APOE ε 4 等位基因与复发性卒中的相关性。
在随访期间，共有 34 例患者发生了复发性卒中，平均复发时间为 11.2±7.3 个月。APOE ε 4 等位基因携带者与非携带者的复发性卒中发生率分别为 17.3%和 7.1%（P=0.015）。多因素 Cox 回归分析显示，APOE ε 4 等位基因是复发性卒中的独立危险因素（HR=2.65，95%CI：1.05-6.72，P=0.041）。
APOE ε 4 等位基因是缺血性卒中患者复发性卒中的独立危险因素。
