Phenotypic spectrum of cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy in Fujian, China: a study based on screening scale

Abstract

Objective To summarize the phenotypic spectrum of cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in Fujian population, evaluate the efficiency of the scale and try to adjust it. Methods Thirty-eight CADASIL patients and 64 CADASIL-like patients were recruited based on the CADASIL scale and gene tests, who visited the First Affiliated Hospital of Fujian Medical University and Fujian Neurology Research Institute from May 2011 to November 2017. Their clinical and neuroimaging characteristics were analyzed. Results The migraine, migraine with aura, transient ischemic attack/stroke, early onset age, psychiatric disturbances, cognitive decline, leukoencephalopathy, subcortical infarcts showed no statistically significant differences between the two groups. Instead, compared with CADASIL-like patients (10/64, 15.6%; 47/64,73.4%; 10/64, 15.6%), CADASIL patients demonstrated higher percentages of temporal pole involvements (13/38, 34.2%; χ2=4.716, P=0.030), external capsule involvements (36/38, 94.7%; P=0.008) and family history in at least two generations (13/38, 34.2%; χ2=4.716, P=0.030). According to the scale, the scores showed statistically significant difference between CADASIL (14.84±3.03) and CADASIL-like patients (13.34±3.31; t=2.282, P=0.025) with an area under receiver operating characteristic curve of 0.622. Conclusions CADASIL showed no specific symptoms in Fujian population. The neuroimaging features were proposed to be focused on, especially the external capsule involvements. CADASIL scale could improve diagnostic efficiency, but still needs to be adjusted for Fujian population. The weight value of migraine, migraine with aura and cognitive decline was suggested to be decreased. Key words: CADASIL; Phenotype; Genetic testing