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目的分析总结4个来自河南地区不同家系但具有相同突变的伴有皮质下梗死和白质脑病常染色体显性遗传性脑动脉病(cerebral autosomal dominantarteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)家系的影像学表现及临床特征,调查家系成员的发病情况。方法回顾性分析4个CADASIL家系先证者的影像学特征和临床特征,调查4个家系中其他成员的发病情况,对患者行Notch3基因3、4、11、18号外显子突变检测,并进行分析。结果4例先证者均以单侧肢体无力为始发症状,其中2例有高血压病史,1例合并糖尿病,1例身体健康;1例有高血压病患者影像学提示丘脑出血,患者无相关主诉;基因检测发现4例先证者及部分家系成员存在p.R607C突变位点。结论存在p.R607C突变位点的4例CADASIL患者临床上首发症状相似,但不同家系成员间存在个体化差异;高血压、糖尿病等脑血管病危险因素可存在于CADASIL患者。
Objective To analyze and summarize the imaging findings of four pedigrees with different families in Henan Province but with the same mutations and associated with subcortical infarcts and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Clinical characteristics, the incidence of family members survey. Methods The imaging characteristics and clinical features of four CADASIL pedigree probands were retrospectively analyzed. The incidence of other members of the four pedigrees was investigated. The mutations in exon 3, 4, 11 and 18 of Notch3 gene were detected and performed analysis. Results 4 cases of proband were unilateral limb weakness as the initial symptom, of which 2 cases had a history of hypertension, 1 case of diabetes mellitus, 1 case of good health; 1 case of hypertensive patients with imaging showed thalamic hemorrhage, patients without Related chief complaint; gene test found 4 cases of proband and some members of the family there p.R607C mutation sites. Conclusions There are similar clinical symptoms in four CADASIL patients with p.R607C mutation, but there are individual differences among different family members. The risk factors of cerebrovascular diseases such as hypertension and diabetes may exist in CADASIL patients.