Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study

Summary Aim To characterize clinical features and mutation spectrum in Chinese patients with CADASIL . Methods We collected 261 clinically suspected Chinese CADASIL patients from three hospitals located in different regions of China. Sanger sequencing is performed to screen the exons 2 to 24 of NOTCH 3 gene. Clinical and genetic data were retrospectively studied. Haplotype analyses were performed in patients carrying p.Arg544Cys and p.Arg607Cys,...