Clinical Characteristics And Screening Scale Analysis Of Patients With CADASIL In Fujian Province

Objective:CADASIL(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,autosomal dominant cerebral arterial disease with subcortical infarct and degeneration of the white matter)has multiple clinical and radiological manifestations and lacks specificity.Skin biopsy and/or genetic testing are the gold standard for diagnosis.The former is invasive.The latter is expensive and takes a long time.The CADASIL scale is recommended as a screening tool before genetic testing,but it is in Asian populations,especially in China.The utility of mainland patients remains to be verified.This study explores the clinical,imaging features of the suspected CADASIL patients and the CADASIL scale to guide the screening of clinically suspected patients and to accurately and effectively screen true CADASIL patients.Methods: We collected 137 suspected CADASIL patients from the Department of Neurology of the First Affiliated Hospital of Fujian Medical University from July 2010 to December 2017,and collected the clinical,imaging data,and CADASIL screening scale for analysis.After eliminating the same family patient,115 patients were enrolled.According to the results of the patient’s genetic tests,the patients were divided into CADASIL group(43 cases)and CADASIL-like group(72 cases).The differences in clinical manifestations and imaging features between CADASIL and CADASIL-like groups were compared.Results:1.The sensitivity of the CADAIL screening scale ≥15 points was 44.19% and the specificity was 59.72%;the area under the ROC curve was 0.613.2.In the CADASIL group,mutations mainly occurred in exon 11(72.1%)and exon 4(20.9%),and mutations were mainly R544C(69.8%).Among the CADASIL patients who presented with ICH(Intracranial Hemorrhage),90.9% were R544 C mutations,but there was no significant difference in bleeding and R544 C mutations(P=0.129).3.Compared with the CADASIL-Like group,the CADASIL group had a lower proportion of men(53.5% VS 62.5%,P=0.000)and a younger age of onset(50.09±10.253 VS 57.08±11.745,p=0.002);white matter degeneration was extended to The proportion was significantly higher(32.6% VS 16.7%,p=0.049),the ratio of white matter degeneration to the outer capsule was higher(93.2% VS 73.3%,p=0.013),and the total score of the CADASIL scale was higher(14.72±3.073 VS 13.33±3.285,p=0.027).4.Compared with the CADASIL group,the CADASIL-like group had a higher prevalence of hypertension(70.4% VS 51.2%,p=0.039).In the CADASIL group,11.6% had diabetes mellitus,11.6% had hyperlipidemia,37.2% had a history of smoking,and 16.3% had a history of drinking.The proportions of diabetes,hyperlipidemia,smoking history,and drinking history were roughly equal in both groups.5.In the CADASIL group,the incidence of migraine was 22.7%,and 4.5% of migraine was accompanied by aura.Conclusion:1.The CADASIL scale has poor screening efficiency for CADASIL patients in Fujian Province of China and needs improvement.2.The R544 C mutation in exon 11 of patients with CADASIL was common in Fujian,China.Most of the CADASIL patients with ICH were R544 C mutations.3.CADASIL patients may be associated with traditional cerebrovascular disease risk factors.4.The incidence of migraine in patients with CADASIL in Fujian Province of China is low,and those who are accompanied by aura are less common.