Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

Disease Overview

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an inherited disorder in which damage to the small blood vessels in the brain leads to stroke and other impairments.[4800][14118][14119] Individuals with CARASIL usually develop symptoms between 20 and 30 years of age.[14119] Symptoms may include: muscle stiffness, personality changes, and memory loss. People with this disease may also experience dementia, hair loss (alopecia), and damage to the spinal column (spondylosis). CARASIL is caused by mutations in the HTRA1 gene. It is inherited in an autosomal recessive pattern.[4800][14118][14119] Although there is no specific treatment or cure, there can be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person’s symptoms.

Synonyms

• CARASIL
• Maeda syndrome
• Subcortical vascular encephalopathy, progressive
• Cerebrovascular disease with thin skin, alopecia, and disc disease