The Analysis Of Clinical And Imaging Characteristics Of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

Objective: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy(CADASIL)is a clinically rare disease that is easily missed and misdiagnosed.Its discovery and recognition based on typical clinical manifestations and imaging features,the diagnosis was finally confirmed by the NOTCH 3 gene test.The purpose of this study was to analyze and summarize the clinical and imaging features of CADASIL,and to find clinical and imaging features specific to the diagnosis of CADASIL.Methods:A total of 115 suspicious CADASIL patients who completed NOTCH 3 gene detection and brain MRI in the First Affiliated Hospital of Fujian Medical University from May 2011 to November 2018 were enrolled.We collected general information(such as age,gender),risk factors for cerebrovascular disease(such as hypertension,diabetes,hyperlipidemia,smoking history and drinking history),clinical manifestations(such as stroke,migraine,spirit Behavioral abnormalities),family history(such as total family history,family history of stroke,family history of migraine),etc.,and assessed four imaging features of the CSVD on the MRI of the brain,such as the Fazekas scale of WMHs,the location and number of lacune and CMBs,and EPVS rating assessment,etc.According to the gene results,we divided those patients into the NOTCH 3 positive group and the NOTCH 3 negative group.The clinical and imaging fetaures between the two groups were compared.Among them,60 patients completed the brain 3.0 TMRI,including 25 cases in the NOTCH 3 positive group and 35 cases in the NOTCH 3 negative group.Compared with the CMBs between the two groups,and 4 CSCD features.The clinical and imaging features of the diagnosed CADASIL were summarized,and the ROC of the diagnosed CADASIL was drawn.Results:1.Compared with the NOTCH 3 negative group,the age of onset of NOTCH 3 positive group was younger(P=0.000),total family history(P=0.001)and family history of stroke(P=0.002)was higher.Cerebrovascular risk factors such as the history of hypertension,the history of diabetes,the history of hyperlipidemia,the history of smoking,and the history of drinking were similar.The clinical manifestations such as stroke,cerebral hemorrhage,and mental behavior abnormalities were similar.2.The CADASIL gene mutations were mainly distributed in exon 11(30 cases,73.2%),followed by No.4(8 cases,19.5%),and the mutation was mainly R544 C mutation.The average age of CADASIL patients was 48.1 years.The most common symptoms was cognitive decline/dementia(65.9%),followed by TIA/cerebral infarction(46.3%).3.Compared with the NOTCH 3 negative group,the two groups were statistically significant in temporal lobe WMHs(p=0.004),external capsule WMHs(p=0.017),EPVS in the midbrain(P=0.017),lacune(P=0.046),and number of lacune(P=0.013),temporal lobe lacune(P=0.016),suboccipital space lacune(P=0.021),basal ganglia lacune(P=0.033),moderate-severe lacune grading(P=0.037),after adjusting for age and gender,the difference was still statistically significant.4.The incidence of lacune in CADASIL patients was 58.5%.The most common site of lacune was basal ganglia.5.The detection rate of CMBs was 84.0% in CADASIL patients.The most common site of CMBs was thalamus.Compared with the NOTCH 3 negative group,there was no statistically significant difference between the two groups in the presence,classification,and distribution of CMBs.6.The specific four CSVD imaging features at the same time on the brain MRI of NOTCH 3 positive group was significantly higher than that of the NOTCH 3 negative groupp(P=0.005).7.We drew the ROC curve of the diagnosis CADASIL of the temporal lobe WMHs,external capsule WMHs,the total family history,the total score of the Fazekas score of 6 points,the specific 4 CSVD features at the same time on MRI,the moderate-severe lacune,and the severe CMBs.The largest area under the curve is four CSVD imaging features(0.683).Conclusion:1.The CADASIL gene mutation is mainly exon 11 and the second is 4,the gene mutation is mainly R544C;the most clinical manifestation is cognitive decline/dementia,followed by TIA/cerebral infarction;2.Temporal lobe WMHs,external capsule WMHs,EPVS in the midbrain,lacune,and number of lacune,temporal lobe lacune,suboccipital space lacune,basal ganglia lacune,moderate-severe lacune are related to the diagnosis of CADASIL;3.The incidence of lacune in CADASIL patients was 58.5%,the most common site was basal ganglia.4.The detection rate of CMBs in CADASIL patients was 84.0%.The most common site of CMBs was thalamus.5.If there are specific 4 CSVD features on the brain MRI,it is necessary to be alert to the possibility of CADASIL.We recommend genetic testing.