What is CADASIL?
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), affects small blood vessels, typically those in the brain. It results in the death of the muscle cells surrounding the vessels, causing strokes and other symptoms.
What are the symptoms of CADASIL?
The damage to blood vessels causes symptoms such as migraines, recurrent seizures, visual sensations, and strokes.
Affected individuals often have multiple strokes throughout their lifetime, which can cause brain damage that brings its own symptoms. Many also develop leukoencephalopathy as well.
What causes CADASIL?
A mutated NOTCH3 gene causes CADASIL. This gene is responsible for a receptor protein that is needed for the function of vascular smooth muscle cells. When it is mutated, these cells die off and cause the characteristic symptoms of this condition. It is inherited in an autosomal recessive pattern.
How is CADASIL diagnosed?
A diagnosis comes after doctors notice the characteristic symptoms. They will then use an MRI, but as the changes in the brain that present in CADASIL can also be present in other conditions, a diagnosis must be confirmed through genetic testing.
What are the treatments for CADASIL?
There is currently no cure for this condition; treatment is symptomatic and should focus on preventing further damage to the blood vessels.