Notch3基因c.1630C>T突变致CADASIL家系的临床特征

The Clinical Characteristics of a CADASIL Pedigrees with c.1630C>T Mutations in Notch3 Gene

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 study the gene mutations and clinical features of the cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL)pedigrees. Methods The clinical data of 2suspected patients of CADASIL from a pedigree was collected,and the hotspots of Notch3 mutations in the 2patients and the offsprings of the proband were examined. Result Both cases were middle-aged onset but the clinical manifestations were different,presented as either cognitive impairment or stroke. However the cranial MRI of the patients both showed much ischemia infarct in bilateral basal ganglia,subcortical and brainstem,and microbleeds in basal ganglia and brainstem,and both had the c.1630C>T mutation in exon 11 of Notch3gene. Conclusion In the pedigree of CADASIL due to the c.1630C>T mutation in Notch3 gene,the clinical manifestations of different family members can be different,but MRI appearances have same characteristics. The cranial MRI can provide clues for diagnosis.