Chen Zhang1, Shaowu Li2, Wei Li1, Songtao Niu1, Xingao Wang1, Zaiqiang Zhang1. 1. Department of Neurology, China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China. 2. Department of Neuroimaging, Beijing Neurosurgical Institute, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Abstract
BACKGROUND AND PURPOSE: Studies have shown characteristics of genotypes and phenotypes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). This study aimed to describe the clinical and genetic characteristics of and correlations between the genotypes and phenotypes observed in CADASIL in China on the basis of exon classification. METHODS: Consecutive Chinese patients with CADASIL were evaluated. The detailed clinical and genetic features of CADASIL patients were collected. Genotypic and phenotypic characteristics were compared among 3 CADASIL groups: group 1 included patients with NOTCH3 mutations in exons 3-4, group 2 included those with NOTCH3 mutations in exon 11, and group 3 included those with NOTCH3 mutations in other exons. RESULTS: A total of 46 patients with CADASIL were evaluated. A comparison of 3 groups with mutations in different NOTCH3 exons revealed that individuals with exon 11 mutations were diagnosed at the oldest age, had the lowest modified Rankin Scale (mRS) scores, and were most likely to have basal ganglia (BG) enlarged perivascular spaces (EPVS) > 20 and atrophy. There were no significant clinical or neuroimaging differences between patients with mutations in exons 3-4 and those with mutations in other exons. CONCLUSIONS: Clinical and neuroimaging features are different among Chinese patients with mutations in exons 3-4, exon 11, or other exons. Exon 11 showed characterized phenotype (the oldest age at diagnosis, the lowest mRS scores, and were most likely to have BG EPVS > 20 and atrophy), there were no significant differences between exons 3-4 and other exons.
BACKGROUND AND PURPOSE: Studies have shown characteristics of genotypes and phenotypes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). This study aimed to describe the clinical and genetic characteristics of and correlations between the genotypes and phenotypes observed in CADASIL in China on the basis of exon classification. METHODS: Consecutive Chinese patients with CADASIL were evaluated. The detailed clinical and genetic features of CADASIL patients were collected. Genotypic and phenotypic characteristics were compared among 3 CADASIL groups: group 1 included patients with NOTCH3 mutations in exons 3-4, group 2 included those with NOTCH3 mutations in exon 11, and group 3 included those with NOTCH3 mutations in other exons. RESULTS: A total of 46 patients with CADASIL were evaluated. A comparison of 3 groups with mutations in different NOTCH3 exons revealed that individuals with exon 11 mutations were diagnosed at the oldest age, had the lowest modified Rankin Scale (mRS) scores, and were most likely to have basal ganglia (BG) enlarged perivascular spaces (EPVS) > 20 and atrophy. There were no significant clinical or neuroimaging differences between patients with mutations in exons 3-4 and those with mutations in other exons. CONCLUSIONS: Clinical and neuroimaging features are different among Chinese patients with mutations in exons 3-4, exon 11, or other exons. Exon 11 showed characterized phenotype (the oldest age at diagnosis, the lowest mRS scores, and were most likely to have BG EPVS > 20 and atrophy), there were no significant differences between exons 3-4 and other exons.