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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. Individuals with CARASIL usually develop symptoms between 20 and 30 years of age. 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. 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.
Source: GARD Last updated on 05-01-20
According to the medical literature, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) has not yet been found in a Caucasian individual. Approximately 50 cases of this condition have been identified: all were Japanese except two siblings who were Chinese. Though there are no official reports of an individual of another ethnicity being diagnosed with this condition, CARASIL is caused by changes (mutations) in the HTRA1 gene, and individuals of every ethnicity have this gene. Therefore, it is possible that an individual of any ethnicity could be diagnosed with this condition.
Last updated on 05-01-20
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