Comparison of the clinical and magnetic resonance imaging characteristics of cerebral autosomal dominant arteriopathy with subcortical infarct and leucoencephalopathy in mainland China and other countries
10.3760/cma.j.issn.1006-7876.2010.10.006
- VernacularTitle: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
- Author:
Yun WANG
;
Daojun HONG
;
Danhua ZHAO
;
Wei ZHANG
;
Zhaoxia WANG
;
Yun YUAN
- Publication Type:Journal Article
- Keywords:
CADASIL;
Pedigree;
Magnetic resonance imaging;
Receptors,Notch
- From:
Chinese Journal of Neurology
2010;43(10):697-701
- CountryChina
- Language:Chinese
-
Abstract:
Objectives To analyse the clinical and MRI features of cerebral autosomal dominant arteriopathy with subcortical infarct and leucoencephalopathy (CADASIL) in mainland China 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.
