CAJ | 학술논문

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。
목적：연구반피질하경사화백질뇌병적상염색체현성유전성뇌동맥병（CADASIL ）가계적기인돌변정황급림상특정。방법수집동일가계중2례의사CADASIL환자적림상자료，병대2례환자급선증자자녀적Notch3기인돌변열점구진행기인검측。결과2례환자균위중년기병，림상표현불동，분별이인지장애급졸중위주요표현，단2례환자두로자공진균현시쌍측기저절구、피질하급뇌간다발결혈경사조，병재기저절구화뇌간가견다발미출혈；2례환자균검측출 Notch3기인11호외현자구c ．1630C＞ T돌변。결론 Notch3기인c ．1630C＞ T돌변소치적해CADASIL가계적림상특정무명현특이성，단동일가계불동성원적림상표현가이불동。
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 2 suspected patients of CADASIL from a pedigree was collected ,and the hotspots of Notch3 mutations in the 2 patients 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 impair‐ment 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 Notch3 gene . 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 differ‐ent ,but MRI appearances have same characteristics . The cranial MRI can provide clues for diagnosis .