Cerebral Autosomal Dominant Arteriopathy

Excerpt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a relatively rare inherited disease with almost exclusively neurological manifestations. This condition manifests pathologically as the thickening of small and medium-sized arteries, not caused by atherosclerosis or amyloid deposition, resulting in blockades and ischemic damage to the brain. The clinical presentations are primarily migraines with aura and premature onset of recurrent small vessel ischemic disease, mood disorders, and progressive cognitive impairment resulting in early-onset dementia. CADASIL has a relatively characteristic appearance on magnetic resonance imaging, and diagnosis is made via genetic testing or skin biopsy. No disease-modifying therapies are yet available, and treatment is targeted mainly at cardiovascular risk reduction.