What is CADASIL?
CADASIL or Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy is an inherited rare genetic disorder that affects the small blood vessels in the brain and causes strokes and other impairments. It is the most common form of hereditary stroke disorder.
What Are the Symptoms?
Hallmark symptoms may include:
- Recurrent strokes
- Cognitive impairment
- Migraine with aura
- Psychiatric disturbances such as severe anxiety and depression
How Do You Get CADASIL?
This disorder is caused by mutations in the NOTCH3 gene which causes abnormal protein accumulation at the surface of smooth muscle cells. NOTCH3 mutations lead to progressive damage to the small blood vessels in the brain. As a consequence of this and other changes, there is a reduction of blood flow to the brain which causes small strokes and other symptoms.
How Is CADASIL Diagnosed?
This disorder is suspected based on symptoms, family history and brain lesions found on MRI. However, it cannot be diagnosed through MRI. Diagnosis can only be confirmed through DNA testing or a skin biopsy.
Is There a Treatment?
There is no treatment that can cure this disorder. Patients should be treated for factors that can cause further damage to the blood vessels such as hypertension, for example. Individuals with this disorder should not smoke. Migraines can be treated with acetaminophen or NSAIDs. Other medications may be needed based on symptoms. Psychological support is often recommended.