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的临床分析

发布时间：2018-05-08 16:03

本文选题：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 + Notch基因　；参考：《广东医学》2017年15期

【摘要】：目的研究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)的临床特征、影像学特点与基因突变类型,比较其与西方人群的差异。方法回顾性分析通过基因确诊的CADASIL住院患者的临床表现、核磁共振特点及基因突变检测结果。结果共收集8个家系共8例CADASIL先证者,临床表现为卒中/TIA者6例(75%)、认知功能减退7例(87.5%)、精神症状2例(25%)、偏头痛2例(25%),头颅MRI评估病变受累部位外囊8例(100%)、桥脑5例(62.5%)、丘脑4例(50%)、小脑4例(50%)、胼胝体3例(37.5%)、颞极2例(25%)。基因突变分析示R544C突变占50%。结论偏头痛不是国人CADASIL常见的临床特征;颞极病变在国人中不常见,外囊、桥脑、丘脑、小脑病变及胼胝体病变是CADASIL常见的受累部位;R544C突变为国人的一个热点突变。
[Abstract]:Objective to study the clinical features, imaging features and gene mutation types of autosomal dominant cerebral artery disease (CADASIL) with subcortical infarction and leukoencephalopathy. Methods the clinical manifestations, MRI features and gene mutation of CADASIL patients diagnosed by gene were analyzed retrospectively. Results A total of 8 CADASIL probands were collected from 8 families. The clinical manifestations were as follows: stroke / TIA (n = 6), cognitive dysfunction (n = 7), mental symptoms (n = 25), migraine (n = 2), external capsule (n = 100), pontine (n = 5), thalamus (n = 4), cerebellum (n = 4), corpus callosum (n = 3) and temporalis (n = 2). Gene mutation analysis showed that R544C mutation accounted for 50%. Conclusion Migraine is not a common clinical feature of CADASIL in Chinese, and temporal pole disease is not common in Chinese. The lesion of external capsule, pons, thalamus, cerebellum and corpus callosum is a hot spot mutation of R544C in CADASIL.
【作者单位】：暨南大学附属第二医学院深圳市人民医院神经内科;深圳市罗湖区人民医院内分泌科;
【基金】：深圳市科技研发基金项目(编号:JCYJ20140416122812034) 深圳市罗湖区软科学研究计划项目(编号:2015037)
【分类号】：R743

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