1例伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病患者的家系分析及基因检测  

Pedigree Analysis and Genetic Testing of One Case of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

作　　者：张永梅[1] 陈桂生[1] 张国荣[1] 颜虹杰[1] 姜丹 张尼娜 宗廷勇 

机构地区：[1]宁夏医科大学总医院神经内科,750004 [2]华大基因,510083

出　　处：《中国临床神经科学》2013年第4期401-407,共7页Chinese Journal of Clinical Neurosciences

摘　　要：目的分析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)的临床特点。方法对1例先证CADASIL患者的临床表现、实验室检查、家系研究及基因检测进行分析,通过家系分析结合基因检测揭示该家系的遗传特征,结合文献资料探讨CADASIL的诊断和治疗进展。结果先证患者以反复发生缺血性脑卒中为主要临床表现,头颅MRI提示双侧基底节区、半卵圆中心、桥脑多发腔隙性梗死灶。家系分析4代34人中有13例CADASIL患者,症状轻重不等,已有8例患者可能因该病死亡,现患病者5例;另有头晕及一过性肢体无力症状2例,未经诊治。基因检测提示NOTCH3基因的第4号外显子点突变。结论该CADASIL患者及家系中患同病者符合常染色体显性遗传规律,家系分析和基因检测对CADASIL的诊断有重要意义,可揭示该病的遗传特征。Aim To analyze cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy（CADASIL） and its characteristics.Methods By using pedigree analysis combined with genetic testing revealing the genetic characteristics of the family,according to the literature material,the disease diagnosis and treatment progress were explored.Results In the patients with recurrent ischemic stroke as the main clinical manifestations,brain magnetic resonance imaging（MRI）imaging showed multiple cerebral lacunar infarction in bilateral basal ganglia,centrum semiovale,bridge.Pedigree analysis indicated that there were 13 patients with symptoms of varying severity in 34 people of four generation population.Among the patients,8 patients might die from the disease.Two of five patients had dizziness and transient limb weakness without diagnosis and treatment.Gene detection indicated that the fourth exon of NOTCH3 gene had mutated.Conclusion The situation of the patients and their families coincided with autosomal dominant inheritance.Pedigree analysis and gene detection have an important role in the diagnosis analysis of CADASIL,which could indicate its genetic characteristics.

关 键 词：常染色体显性遗传性脑动脉病 皮质下梗死 白质脑病 家系 NOTCH3基因 遗传 

分 类 号：R743[医药卫生—神经病学与精神病学]