What is CADASIL Syndrome?
CADASIL Syndrome, also known as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is one of the most common form of stroke disorders. It is a genetic condition, inherited from one affected parent, which affects smooth muscles of small blood vessels mostly found in the brain. It is classified under the family of leukodystrophies.
In CADASIL Syndrome, there are mutations in the Notch3 gene on the short arm of chromosome 19. Notch3 genes are responsible for stimulating the production of Notch3 receptor proteins. These proteins are needed for the normal functioning of the smooth muscle cells in the blood vessels. Due to these mutations, there is a resulting production and accumulation of abnormal Notch3 receptor proteins causing progressive degeneration in the muscle cells of blood vessels resulting to vascular damage. Over time, this compounded damage results in blood flow limitations causing a transient ischemic attack (TIA) and stroke which are usually the first manifestations of CADASIL syndrome. Other manifestations include psychiatric disorders, confusion, epilepsy, seizures, migraine headaches, dementia and other cognitive impairments.
The common clinical manifestations of this disorder usually appear between 30 and 60 years of age, although the signs and symptoms, age of onset and disease progression usually varies from person to person. Some of the affected individuals have a history of high blood pressure or hypertension, and high cholesterol levels or hypercholesterolemia. However, these common risk factors for stroke are not directly associated with CADASIL Syndrome and their presence does not automatically qualify a person to develop CADASIL Syndrome.