Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

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Autosomal recessive - en
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Other namesCARASIL
SymptomsStroke, cognitive decline, gait disturbances
CausesHTRA1 gene mutation
TreatmentSymptomatic management

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare autosomal recessive genetic disorder that affects the small blood vessels in the brain. It is characterized by the development of subcortical infarcts and leukoencephalopathy, leading to various neurological symptoms.

Signs and symptoms[edit | edit source]

Individuals with CARASIL may experience recurrent stroke-like episodes, cognitive decline, and gait disturbances. These symptoms typically manifest in early to mid-adulthood.

Cause[edit | edit source]

CARASIL is caused by mutations in the HTRA1 gene, which plays a role in maintaining the integrity of blood vessels in the brain. The exact mechanism by which these mutations lead to the characteristic features of CARASIL is not fully understood.

Diagnosis[edit | edit source]

Diagnosis of CARASIL is based on clinical evaluation, imaging studies such as MRI of the brain, and genetic testing to identify mutations in the HTRA1 gene.

Treatment[edit | edit source]

Currently, there is no specific treatment for CARASIL. Management focuses on addressing the individual symptoms, such as physical therapy for gait disturbances and cognitive rehabilitation for cognitive decline.

Prognosis[edit | edit source]

The prognosis for individuals with CARASIL varies depending on the severity of symptoms and complications. The condition is progressive, and individuals may require supportive care as the disease advances.

Epidemiology[edit | edit source]

CARASIL is a rare condition, with only a limited number of cases reported worldwide. It is more common in certain populations with a higher prevalence of the HTRA1 gene mutation.

See also[edit | edit source]


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Contributors: Prab R. Tumpati, MD