CADASIL

- CADASIL = cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy
- most common genetic form of vascular dementia, usually presents in middle age
- thalami and basal ganglia are usually involved
- characterised by migraine with aura, stroke at young age and early vascular dementia
- affected gene : NOTCH 3 gene (chromosome 19)
- MRI: leucoaraiosis and infarction, T2 weighted hyperintensity of periventricular white matter
- diagnosis is by skin biopsy
- neuropathological studies show pathognomonic granular osmiophilic materials in media of small arteries