中国26个常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病家系的临床和影像学特点及与其他国家患者的对比

Comparison of the clinical and magnetic resonance imaging characteristics of cerebral autosomal dominant arteriopathy with subcortical infarct and leucoencephalopathy in China's Mainland and other countries

目的 分析我国常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病（CADASIL）患者的临床和影像学特点,并与其他国家的患者进行对比.方法 收集2003年1月至2009年10月在我院经Notch3基因和超微病理检查证实的26个CADASIL家系中102例患者的发病年龄、首发症状和临床表现特点,与德国、日本、沙特、法国患者的症状用x2检验进行比较;分析35例患者头颅MRI改变特点并与英国以及法国患者进行对比.结果 102例患者发病年龄在22～80岁,平均（43.9±11.0）岁,缺血性脑卒中或TIA出现率（79.41%）与其他国家患者差异无统计学意义;痴呆出现率（50.00%）高于沙特（21.05%,x2=5.513,P=0.020）和法国（31.11%,x2=4.517,P=0.034）患者;精神异常出现率（14.71%）较德国患者低（30.39%,x2=7.185,P=0.007）;偏头痛出现率（13.73%）和法国患者类似,明显少于日本（40%,x2=12.658,P=0.000）、德国（38.24%,x2=15.932,P=0.000）和沙特患者（42.11%,x2=6.869,P=0.009）.35例患者头MRI均存在异常改变,没有发现延髓损害,腔隙性梗死在基底节的发生率（82.86%）明显较法国患者（60%,x2=5.663,P=0.017）高;大脑白质疏松发生率与法国患者相似;颞极白质受累率（68.57%）明显少于英国患者（95%,x2=5.211,P=0.022）.结论 不同国家CADASIL的临床表现和MRI改变存在差异.双颞极白质异常信号对国人CADASIL的诊断不是一个敏感指标.

Objectives To analyse the clinical and MRI features of cerebral autosomal dominant arteriopathy with subcortical infarct and leucoencephalopathy （CADASIL） in China's Mainland and compare these features with those reported in other countries.Methods All 26 CADASIL families were collected in First Hospital of Peking University from January 2003 to October 2009, and the diagnosis was confirmed by ultrastructural examination or Notch3 gene analysis.The age of onset, initial symptoms, main symptoms in 102 patients were described and the features with those reported in Germany, Japan, Arab and France were compared using x2 test.The cranial MRI changes in 35 patients were analysed and compared with the British and French patients.Results 102 patients had their initial symptoms between 22-80 years with the mean age of onset at （43.9 ± 11.0） years.There was no significant difference in the frequency of ischemic stroke or TIA （79.41% ） between our patients and the patients in other countries.Dementia rate （50.00% ） was significantly greater than that of Arab （21.05% ,x2 =5.513, P =0.020） and French patients（31.11%,x2 =4.517, P =0.034）.The frequency of mood disturbances （ 14.71% ） was significantly lower than that of German patients （30.39% ,x2 =7.185, P =0.007）.The frequency of migraine （ 13.73% ） was similar to that of France but lower than that of Japan （40%, x2 = 12.658, P = 0.000）, Germany （38.24%, x2 =15.932, P=0.000） and Arab （42.11% ,x2 =6.869, P=0.009）.Cranial MRIs were abnormal in all 35patients, but no lesion was seen in the medulla oblongata.Lacunar infarcts in the basal ganglia （82.86% ）were significantly more frequent than that of French patients （60% , x2 = 5.663, P = 0.017）.The frequency of leukoaraiosis in the cerebrum was similar to that of French patients.Anterior temporal involvement （68.57%） was significantly lower than of British patients （ 95%, x2 = 5.211, P = 0.022 ）.Conclusion The clinical symptoms and MRI changes of CADASIL in different countries were not identical.Abnormal anterior temporal pole signal on MRI is not a sensitive marker for diagnosis of CADASIL in Chinese patients.