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目的研究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(CADASIL)家系的基因突变情况及临床特征。方法收集同一家系中2例疑似CADASIL患者的临床资料,并对2例患者及先证者子女的Notch3基因突变热点区进行基因检测。结果 2例患者均为中年起病,临床表现不同,分别以认知障碍及卒中为主要表现,但2例患者头颅磁共振均显示双侧基底节区、皮质下及脑干多发缺血梗死灶,并在基底节区和脑干可见多发微出血;2例患者均检测出Notch3基因11号外显子区c.1630C>T突变。结论Notch3基因c.1630C>T突变所致的该CADASIL家系的临床特征无明显特异性,但同一家系不同成员的临床表现可以不同。
Objective To investigate the gene mutation status and clinical features of autosomal dominant cerebral artery disease (CADASIL) with subcortical infarction and leukoencephalopathy. Methods The clinical data of 2 suspected CADASIL patients from the same pedigree were collected and the gene mutations were detected in the hot spot of Notch3 gene in 2 patients and their probands. Results Both of the two patients were of middle age. Their clinical manifestations were different. They were mainly cognitive impairment and stroke, respectively. However, cranial magnetic resonance imaging showed bilateral ischemic infarction in both basal ganglia, subcortex and brainstem The lesions were found in the basal ganglia and brainstem, and the c.1630C> T mutation in the exon 11 of Notch3 gene was detected in both cases. Conclusion The clinical features of the CADASIL pedigree caused by the c.1630C> T mutation of Notch3 gene have no obvious specificity, but the clinical manifestations of different members of the same pedigree may be different.