Table 1.
Patient characteristics.
Fig 1.
FLAIR Brain MRIs scans from two of the patients with notch 3 mutations.
The upper panel 1 shows images from patient 1 (R169C), and the lower panel two shows images from patient 2 panel 2 (C1222G). These show leukoaraiosis in both cases (images C and D) but minimal anterior pole involvement in patient 1 (image upper panel A) and no involvement in patient 2 (image lower panel A). Patient 1 also shows confluent external capsule involvement (image B), but this is absent from patient 4 (lower panel B).
Table 2.
Characteristics of patients with a NOTCH3 mutation.
Table 3.
Clinical characteristics of cases with genetic variants of unknown significance.
Fig 2.
Brain MRI (T2-Weighted) of the patient carrying the GLA mutation R118C.
Two lacunes are present in the right caudate nucleus and external capsule (C). An area of white matter hyperintensity is present in the peripheral right posterior frontal white matter (D). There were no abnormalities in the posterior circulation.