| Disease |
Property |
Pathogenesis |
Gene(s) |
Onset age |
Common symptoms |
Treatment |
| CADASIL |
hereditary small cerebral artery disease |
Aggregation of Notch3 and GOM →degeneration of VSM cells |
Notch3 on chromosome 19p13 |
late |
Ischemic attack, depressive or maniac episodes, migraine, Cognitive and motor impairment |
Antiepileptic drugs,
β blockers，
exercise restriction |
| Marfan syndrome |
connective tissue disorder |
Defective connections between smooth muscle cells and elastic fibers |
FBN1 on chromosome 15q21 |
variable |
Loosejoints ,Ectopialentis, myopia |
β blockers
aortic root surgery |
| Moyamoya disease |
Cerebral vasculopathic disease |
Occlusion of supraclinoid internal carotid arteries→arterial collaterals |
3p24.2- p26, 6q25, 8q23, 12p12,17q25 |
childhood |
Ischemic attack, headache,
Intracerebral hemorrhage,
motor impairment |
direct or indirect bypass surgery |
| HHT |
Dominant vascular disorder |
Telangiectasias result in frail blood vessel walls |
ENG, ACVRL1, MADH4. |
early |
Hemorrhage, anemia |
More iron intake, Surgery to remove the arteriovenous malformations |
| MOPDII |
autosomal recessive disease |
Abnormity in mitotic spindle organization in centrosomes |
PNCT on 21q22.3 |
childhood |
growth retardation, microcephaly
hemorrhage, aneurysms |
hormone therapy |
| Fabry disease |
X-linked Lysosome storage disorder |
lipid accumulation in the lysosome of cells in organs and vascular endothelium |
GALA on chromosome Xq22 |
Late
Male earlier than female |
Stroke, cataracts,
painful neuropathy |
enzyme replacement therapy—α-galactosidase A |
Granule and osmiophilic materials (GOM)