Introduction
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), is disease of the arteries in the brain, which causes tissue loss in the subcortical region of the brain and the destruction of myelin in the central nervous system.
Symptoms
Abnormalities affecting the brain and other parts of the nervous system become apparent in an affected person’s twenties or thirties. Often, muscle stiffness (spasticity) in the legs and problems with walking are the first signs of the disorder. About half of affected individuals have a stroke or similar episode before age 40. As the disease progresses, most people with CARASIL also develop mood and personality changes, a decline in thinking ability (dementia), memory loss, and worsening problems with movement.
Causes
CARASIL is caused by mutations in the HTRA1 gene.
Prevalence
Unknown