Diversity of Stroke Presentation in CADASIL: Study from Patients Harboring the Predominant NOTCH3 Mutation R544C
Diversity of Stroke Presentation in CADASIL: Study from Patients Harboring the Predominant NOTCH3 Mutation R544C
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DOI：
10.1016/j.jstrokecerebrovasdis.2011.07.002
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发表时间：
2013-02-01
影响因子：
2.5
通讯作者：
Kang, Ji-Hoon
中科院分区：
文献类型：
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作者：
Choi, Jay Chol;Song, Sook-Keun;Kang, Ji-Hoon
脑常染色体显性动脉病变伴皮质下梗死和白质脑病（CADASIL）是一种由NOTCH3基因突变引起的脑小血管单基因疾病。CADASIL中已经报道了几种特征性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例连续的韩国患者的临床卒中表现和脑MRI表现。脑MRI图像也对腔隙性梗死和脑微出血进行评分。颅内动脉粥样硬化（ICAS）通过磁共振血管造影评估。残障采用改良Rankin量表（mRS）进行评定，分为好（mRS评分0-2分）和差（mRS评分3-5分）。在本研究中，73例患者中65例（90.3%）具有相同的R544C基因型。31例患者共发生40次脑梗死，平均发病年龄58.8±11.4岁（范围38-76岁）。12例患者（16.9%）有ICAS，其中5例患者有症状性狭窄。发生脑出血9例（12.3%）。脑出血和ICAS均与临床预后不良相关。我们的数据表明，根据种族和血管危险因素，临床卒中表现的多样性。
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.