Department of Neurology and Institute of Medical Science, Jeju National University, Jeju, Korea.
J Stroke Cerebrovasc Dis. 2013 Feb;22(2):126-31. doi: 10.1016/j.jstrokecerebrovasdis.2011.07.002.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder of the cerebral small blood vessels caused by mutations in the NOTCH3 gene. Several characteristic population-specific clinical phenotypes and neuroimaging features have been reported in CADASIL. This study investigated the clinical stroke presentation and cranial magnetic resonance imaging (MRI) findings in a group of patients with CADASIL. We reviewed the clinical stroke presentation and brain MRI findings in 73 consecutive Korean patients aged >18 years diagnosed with CADASIL between May 2004 and April 2009. Brain MRI images were also scored for lacunar infarction and cerebral microbleeds. Intracranial atherosclerosis (ICAS) was assessed by magnetic resonance angiography. Disability was measured with the modified Rankin scale (mRS) and classified as good (mRS score 0-2) or poor (mRS score 3-5). In this study, 65 of the 73 patients (90.3%) had the same R544C genotype. A total of 40 episodes of cerebral infarction were confirmed in 31 patients, with a mean age at onset of 58.8 ± 11.4 years (range, 38-76 years). Twelve patients (16.9%) had ICAS, and 5 of these patients had symptomatic stenoses. Intracerebral hemorrhage occurred in 9 patients (12.3%). Both intracerebral hemorrhage and ICAS were associated with poor clinical outcome. Our data demonstrate the diversity of clinical stroke presentation according to ethnicity and vascular risk factors.
伴有皮质下梗死和白质脑病的常染色体显性脑动脉病（CADASIL）是一种由 NOTCH3 基因突变引起的脑小血管单基因疾病。CADASIL 已报道了几种具有特征性的人群特异性临床表型和神经影像学特征。本研究调查了一组 CADASIL 患者的临床脑卒中表现和颅磁共振成像（MRI）结果。我们回顾了 2004 年 5 月至 2009 年 4 月期间诊断为 CADASIL 的 73 例连续韩国患者的临床脑卒中表现和脑 MRI 结果。还对腔隙性梗死和脑微出血进行了脑 MRI 评分。通过磁共振血管造影评估颅内动脉粥样硬化（ICAS）。使用改良 Rankin 量表（mRS）测量残疾程度，并分为良好（mRS 评分 0-2）或不良（mRS 评分 3-5）。在这项研究中，73 例患者中有 65 例（90.3%）具有相同的 R544C 基因型。31 例患者中有 40 例脑梗死发作，平均发病年龄为 58.8±11.4 岁（范围 38-76 岁）。12 例患者（16.9%）有 ICAS，其中 5 例有症状性狭窄。9 例患者（12.3%）发生脑出血。脑出血和 ICAS 均与不良临床结局相关。我们的数据表明，根据种族和血管危险因素，临床脑卒中表现存在多样性。
