CARASIL syndrome

CARASIL syndrome is a rare hereditary small vessel disease of the brain. It is characterized by early-onset difficulties with walking, premature hair loss on the scalp, and signs of stroke. People with this condition may experience acute pain in the mid to lower back and develop gradual problems with thinking and memory that can lead to severe dementia. This condition is known to start early in life and progressively affects both physical and cognitive functions.

Common symptoms of CARASIL syndrome include problems with walking, early loss of scalp hair, ischemic strokes, and back pain. In addition, many people experience gradual decline in cognitive abilities that eventually can lead to severe dementia.

CARASIL syndrome is a genetic condition caused by changes in the HTRA1 gene. It is inherited in an autosomal recessive manner, which means that an affected person has received a gene change from both parents. This genetic change disrupts the normal function of small blood vessels in the brain.

Information about treatment is currently limited for this condition.

CARASIL syndrome is a progressive condition that can lead to severe dementia and mobility challenges over time. The pace and severity of the condition can vary among people, but the long-term outlook is generally difficult due to the gradual decline in cognitive and physical abilities.

Information about current research and future directions is currently limited for this condition.