一个以偏头痛为首发症状的CADASIL家系的研究  

Study of a CADASIL family with migraine as the presenting symptom

作　　者：侯晓夏 程虹[1] 金庆文[1] 牛琦[1] 沈飞飞[1] 姚娟[1] 丁新生[1] 

机构地区：[1]南京医科大学第一附属医院神经内科,210029

出　　处：《中华医学遗传学杂志》2016年第4期511-514,共4页Chinese Journal of Medical Genetics

基　　金：南京市科技计划项目（201201083）

摘　　要：目的探讨伴有皮层下梗死和白质脑病的常染色体显性遗传性脑动脉病（cerebralautosomaldominantarteriopathywithsubcorticalinfarctsandleukoencephalopathy，CADASIL）患者的临床特征及基因诊断。方法探讨1例患有CADASIL的先证者及其亲属的发病情况、遗传方式、临床表现以及影像学特征，并检测NOTCH3基因的潜在突变。结果家系中所有患者均有偏头痛史，中年以后均有脑卒中样发作和焦虑不安等情感障碍，但智能减退不明显。头颅磁共振扫描显示双侧基底节区、皮质下及脑干多发缺血梗死灶，临床符合CADASIL的诊断。NOTCH3基因分析发现第14外显子2182C〉T突变。该家系4代中有3代10人呈临床或亚临床发病，符合常染色体显性遗传。结论该家系的临床及分子遗传学特征均符合于cADASIL诊断。Objective To analyze the clinical features and genetic cause for a family affected with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy （CADAS1L）. Methods Clinical manifestations, neuroimaging, and genetic analysis were performed. Results The main clinical features have included stroke, emotional disturbance and history of migraine without progressive memory impairment. A positive family history was confirmed. Cranial MRI has revealed multi-infarct lesions and white matter hyperintensity involving bilateral basal ganglia, subcortex and brain stem. All such features were in keeping with the diagnosis of CADASIL. A rare 2182C〉T mutation in exon 14 of the NOTCH3 gene was identified in all available cases. Conclusion Both clinical and molecular features suggested that the family has been affected with CADASIL.

关 键 词：偏头痛 脑动脉病 多发性脑梗死 常染色体显性遗传 

分 类 号：R743[医药卫生—神经病学与精神病学]