Lee Jung Seok, Ko KeunHyuk, Oh Jung-Hwan, Park Joon Hyuk, Lee Ho Kyu
Department of Neurology, Jeju National University Hospital, Jeju, Korea.
Department of Psychiatry, Jeju National University Hospital, Jeju, Korea.
Dement Neurocogn Disord. 2016 Mar;15(1):15-19. doi: 10.12779/dnd.2016.15.1.15. Epub 2016 Mar 31.
Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most-common single gene disorder of cerebral small vessel disease. There is no definite evidence of genotype-phenotype correlation in CADASIL. However, recent studies have shown the unique phenotypic feature of NOTCH3 R544C mutation.
We investigated the phenotypic spectrum of NOTCH3 R544C mutation in 73 CADASIL patients in Jeju between April 2012 and January 2014.
Of the 73 subjects from 60 unrelated families included in this study, 40 (55%) were men. The mean age of the subjects was 62.2±12.2 (range 34-86 years). Cerebral infarction was the most frequent manifestation (37%), followed by cognitive impairment (32%), headache (17%), psychiatric symptom (16%), intracerebral hemorrhage (12%), transient ischemic attack (7%), and seizure (1%). The mean age of the subjects with ischemic or hemorrhagic episodes was 64.9±10.9 (range 41-86 years). A diagnosis of dementia was made in 12 subjects (16%). The mean age of the subjects with dementia was 75.6±6.5 (range 62-86 years). About 3% of subjects were unable to walk without assistance at assessment. Only one subject had developed chronic headache before the 40s.
Our data support the hypothesis that CADASIL patients with R544C mutation in Jeju have relatively late onset disease.
伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）是最常见的脑小血管病单基因疾病。目前尚无CADASIL基因型与表型相关性的确切证据。然而，最近的研究显示了NOTCH3基因R544C突变的独特表型特征。
我们调查了2012年4月至2014年1月期间济州岛73例CADASIL患者中NOTCH3基因R544C突变的表型谱。
本研究纳入的60个无亲缘关系家庭的73名受试者中，40名（55%）为男性。受试者的平均年龄为62.2±12.2岁（范围34 - 86岁）。脑梗死是最常见的表现（37%），其次是认知障碍（32%）、头痛（17%）、精神症状（16%）、脑出血（12%）、短暂性脑缺血发作（7%）和癫痫发作（1%）。发生缺血性或出血性发作的受试者平均年龄为64.9±10.9岁（范围41 - 86岁）。12名受试者（16%）被诊断为痴呆。患有痴呆的受试者平均年龄为75.6±6.5岁（范围62 - 86岁）。约3%的受试者在评估时需要他人协助才能行走。只有1名受试者在40岁之前出现慢性头痛。
我们的数据支持这样的假设，即济州岛携带R544C突变的CADASIL患者发病相对较晚。
