Nine out of 161 patients (9/161 = 5.6%) having characteristic phenotypes and brain MRI/MRA were diagnosed via conventional Sanger sequencing of specific gene hotspots, including six with NOTCH3-related CADASIL (all carried p.R544C), two with GLA-related Fabry disease (p.Y365* and IVS4 + 919G > A), and one with m.3243A > G-related MELAS. The gene discussed is NOTCH3; the disease is Fabry disease.