Genotypic and Phenotypic Characteristics of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy from China

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.