您的位置：首页 > 论文页面
伴有偏头痛表现的CADASIL家系Notch3基因突变
发表时间：2009-06-15 浏览量：2129 下载量：973
| 全部作者： | 殷鑫浈，刘建仁，张宝荣，张梁，王佩珍，周富友，丁美萍，赵国华 |
| 作者单位： | 浙江大学医学院附属第二医院神经内科 |
| 摘 要： | 目的：研究两个伴皮质下梗死和脑白质病的常染色体显性遗传性脑动脉病（cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy，CADASIL）家系的临床特点，并进行Notch3基因突变分析。方法：对两个CADASIL家系内共5名患者进行详细的临床分析，并应用DNA序列分析方法检测这两个家系中4名患者、4名有血缘关系的健康人及家系外120名无血缘关系健康人对照的Notch3基因2～5号外显子的突变情况。结果：两家系患者表现为偏头痛、脑卒中和记忆力下降，头颅核磁共振成像(magnetic resonance imaging, MRI)均表现为双侧脑室周围为主的皮层下梗死、白质变性；Notch3基因突变分析发现一家系患者存在397C→T（R133C）突变，在国内尚未见报道；另一家系患者存在268C→T（R90C）突变，以上突变均与疾病表型共分离。结论：这两个CADASIL家系为Notch3基因突变所致，存在偏头痛表现。 |
| 关 键 词： | 神经病学；脑动脉病；偏头痛；Notch3基因；突变 |
| Title： | Notch3 gene mutations in two CADASIL kindreds with migraine |
| Author： | YIN Xinzhen, LIU Jianren, ZHANG Baorong, ZHANG Liang, WANG Peizhen, ZHOU Fuyou, DING Meiping, ZHAO Guohua |
| Organization： | Department of Neurology, The Second Affiliated Hospital, College of Medicine, Zhejiang University |
| Abstract： | Objective: To investigate the clinical features of two kindreds with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and analyze Notch3 gene mutations. Methods: Five patients of the family members were studied through clinical examinations. Notch3 gene mutations in four patients, four unaffected family members and 120 unrelated normal controls were detected via DNA sequence analysis method. Results: The patients in these families showed typical migraine, stroke and memory decline; and cranial magnetic resonance imaging (MRI) revealed subcortical white matter infarct and leukoencephalopathy. A 397C→T (R133C) mutation and a 268C→T (R90C) mutation were identified in these two pedigrees respectively, and these two mutations were co-segregated with the diseases. The 397C→T mutation has not been reported previously in China. Conclusion: These two CADASIL is due to Notch3 mutations, and the patients with CADASIL in these two pedigrees show migraine. |
| Key words： | neurology; cerebral artery diseases; migraine; Notch3 gene; mutation |
| 发表期数： | 2009年6月第11期 |
| 引用格式： | 殷鑫浈，刘建仁，张宝荣，等. 伴有偏头痛表现的CADASIL家系Notch3基因突变[J]. 中国科技论文在线精品论文，2009，2（11）：1125-1130. |
0
评论数 0请您登录
暂无评论
下载全文
多维论文