Skip to main content

Table 2 Summary of the NOTCH3 mutations and mitochondrial abnormalities detected in CADASIL patients

From: Absence of mtDNA mutations in leukocytes of CADASIL patients

Patient Ethnicity Notch3mutation detected NS+ mtDNA sequence changes Mitochondrial haplogroup Of CADASIL patients Percentage of mitochondrial haplogroup in controls (n = 552)
1 Saudi c.406 C> T 14113 M 3.1%
2 Saudi c.1568 C> T 3851 K 4%
3 Kuwait c.406 C> T 14171 N 7.4%
4 Sudan ND 15048 preHV1 17.9%
5 Yemen c.475 C> T 14966 J 21%
  1. ND = not detected
  2. + All non-synonymous (NS) mtDNA sequence changes reported above were not detected in 159 matching healthy controls.
  3. ‚óŹ Percentage of Mitochondrial haplogroups among 552 healthy Arabs as previously reported by Abu-Amero et al., 2008 [20]