CADASIL stands for “Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy”. It is an inherited genetic disorder that affects the blood vessels in the brain. CADASIL is caused by mutations in the NOTCH3 gene, which provides instructions for making a protein involved in the development and maintenance of blood vessels.
The mutation causes damage to the small blood vessels in the brain, leading to a variety of neurological symptoms. These can include migraines, strokes, cognitive impairment, dementia, and psychiatric symptoms such as depression and anxiety.
CADASIL is a rare disease, with an estimated prevalence of 1 in 50,000 individuals. Symptoms usually appear in early adulthood, but can appear later in life. There is no cure for CADASIL, and treatment is focused on managing symptoms and preventing further damage to the brain. This can involve medications to control blood pressure and prevent blood clots, as well as lifestyle changes such as exercise and a healthy diet. Genetic counseling is also recommended for individuals with a family history of CADASIL.
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