CADASIL
CADASIL
CADASIL (pronounced kuh-dah-sil), or Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, is a genetically inherited disease that affects the small blood vessels in the brain.
Etymology
The term CADASIL is an acronym derived from the full name of the disease. The term was first used in the early 1990s when the disease was formally recognized.
Definition
CADASIL is a form of cerebrovascular disease that occurs when the thickening of blood vessel walls blocks the flow of blood to the brain. The disease is characterized by migraines, psychiatric disturbances, and multiple strokes leading to progressive cognitive decline.
Symptoms
The symptoms of CADASIL can vary widely among individuals and even among members of the same family. The most common symptoms include:
- Migraines with aura
- Mood disorders such as depression and bipolar disorder
- Progressive cognitive decline
- Strokes
Causes
CADASIL is caused by mutations in the NOTCH3 gene. This gene provides instructions for making a protein that is found in the muscle cells that surround blood vessels. Mutations in the NOTCH3 gene disrupt the normal function of these cells, leading to the characteristic features of CADASIL.
Diagnosis
Diagnosis of CADASIL is typically based on the presence of characteristic clinical features, a family history of the disorder, and specialized imaging tests. Genetic testing can confirm a diagnosis.
Treatment
There is currently no cure for CADASIL, and treatment is symptomatic. Management of the disease often involves a team of medical professionals, including neurologists, psychiatrists, and physical and occupational therapists.
Prognosis
The prognosis for individuals with CADASIL varies. Some people may live into their 70s or 80s with mild symptoms, while others may experience severe disability in early adulthood.
See also
External links
- Medical encyclopedia article on CADASIL
- Wikipedia's article - CADASIL
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