The present result also suggests that compared with cysteine-sparing mutations in Exon 7–34, mutations in Exon 1–6 presented a high risk of typical CADASIL phenotype, somewhat in line with previous findings that the position of NOTCH3 cysteine-affecting variants plays a crucial role in determining CADASIL clinical and radiological severity. Here, NOTCH3 is linked to CADASIL.