Table.
Clinical Overview of Three Cases with a Mutation in Exon 24 of NOTCH3.
| Age/Sex | Mutation of NOTCH3
(EGF-like repeat) |
Initial symptoms | Stroke | Migraine | Depression | Cognitive impairment | High-intensity lesion on brain MRI | Country (reference) |
|---|---|---|---|---|---|---|---|---|
| 64/M | p.Cys1315Tyr (33rd) |
Parkinsonism | - | + | - | + | Deep white matter External capsules |
Italy (6) |
| 73/F | p.Cys1298Phe (33rd) |
Transient global amnesia | TIA | + | + | + | Deep white matter Brain stem Temporal poles Left external capsule Microbleeds in the right basal ganglia regions |
Italy (5) |
| 50/M | p.Cys1293Trp (33rd) |
Depression | - | - | + | - | Deep white matter Brain stem Temporal poles Bilateral external capsule Microbleeds in the left thalamus |
Japan (present case) |
EGF: epidermal growth factor, M: male, F: female, TIA: transient ischemic attack