基于筛查量表的福建人群常染色体显性遗传性脑动脉病伴皮质下梗死及白质脑病表型谱的研究  

Phenotypic spectrum of cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy in Fujian, China: a study based on screening scale

作　　者：蔡乃青[1] 张清香[1] 郑韵秋 曾燕琴 段心怡 王柠[1] 李智文[1] 蔡斌[1] Cai Naiqing;Zhang Qingxiang;Zheng Yunqiu;Zeng Yanqin;Duan Xinyi;Wang Ning;Li Zhiwen;Cai Bin(Department of Neurology,the First Affiliated Hospital of Fujian Medical University,Fuzhou 350005,China;The First Clinical Medical College,Fujian Medical University,Fuzhou 350100,China;Department of Neurology,Changle District Hospital,Fuzhou 350200,China)

机构地区：[1]福建医科大学附属第一医院神经内科,福州350005 [2]福建医科大学第一临床医学院,福州350100 [3]福州市长乐区医院神经内科,350200

出　　处：《中华神经科杂志》2019年第1期8-13,共6页Chinese Journal of Neurology

基　　金：国家自然科学基金面上项目(81171114,81571133);福建省自然科学基金资助项目(2015J01392);福建省临床重点专科建设项目;福建省卫生系统中青年骨干人才培养项目(2014-ZQN-ZD-18);福建省科技重大专项专题项目(2017YZ0001-1).

摘　　要：目的 总结福建人群常染色体显性遗传性脑动脉病伴皮质下梗死及白质脑病(CADASIL)表型谱,探讨CADASIL筛查量表的效力及调整方向。 方法 根据筛查量表及基因检测,纳入2011年5月至2017年11月就诊于福建医科大学附属第一医院神经内科及福建省神经病学研究所的38例CADASIL患者及64例类CADASIL患者,总结其临床、影像特点,分析量表效力。 结果 CADASIL患者在白质病变延伸至颞极(13/38,34.2%)、外囊(36/38,94.7%)及至少累及2代家族史(13/38,34.2%)项目中的比例均高于类CADASIL患者(分别为10/64,15.6%,χ^2=4.716,P=0.030;47/64,73.4%,P=0.008;10/64,15.6%,χ^2=4.716,P=0.030)。而二组在其余项目(偏头痛、有先兆的偏头痛、短暂性脑缺血发作/卒中、短暂性脑缺血发作/卒中发生在50岁前、精神障碍、认知功能下降、白质脑病、皮质下梗死)中差异无统计学意义。CADASIL患者量表得分[(14.84±3.03)分]高于类CADASIL患者[(13.34±3.31)分,t=2.282,P=0.025],量表受试者工作特征曲线下面积为0.622。 结论 福建人群CADASIL临床表现特异性较低,建议更多关注影像学改变,尤其是白质病变累及外囊。CADASIL筛查量表能够提高疾病诊断效率,但对于福建人群需要适当调整,可考虑降低偏头痛、有先兆的偏头痛及认知功能下降的分值。Objective To summarize the phenotypic spectrum of cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in Fujian population, evaluate the efficiency of the scale and try to adjust it. Methods Thirty-eight CADASIL patients and 64 CADASIL-like patients were recruited based on the CADASIL scale and gene tests, who visited the First Affiliated Hospital of Fujian Medical University and Fujian Neurology Research Institute from May 2011 to November 2017. Their clinical and neuroimaging characteristics were analyzed. Results The migraine, migraine with aura, transient ischemic attack/stroke, early onset age, psychiatric disturbances, cognitive decline, leukoencephalopathy, subcortical infarcts showed no statistically significant differences between the two groups. Instead, compared with CADASIL-like patients (10/64, 15.6%;47/64,73.4%;10/64, 15.6%), CADASIL patients demonstrated higher percentages of temporal pole involvements (13/38, 34.2%;χ^2=4.716, P=0.030), external capsule involvements (36/38, 94.7%;P=0.008) and family history in at least two generations (13/38, 34.2%;χ^2=4.716, P=0.030). According to the scale, the scores showed statistically significant difference between CADASIL (14.84±3.03) and CADASIL-like patients (13.34±3.31;t=2.282, P=0.025) with an area under receiver operating characteristic curve of 0.622. Conclusions CADASIL showed no specific symptoms in Fujian population. The neuroimaging features were proposed to be focused on, especially the external capsule involvements. CADASIL scale could improve diagnostic efficiency, but still needs to be adjusted for Fujian population. The weight value of migraine, migraine with aura and cognitive decline was suggested to be decreased.

关 键 词：CADASIL 表型 基因测定 

分 类 号：R743[医药卫生—神经病学与精神病学]