Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

Autosomal recessive - en

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Other names	CARASIL
Specialty	Neurology
Symptoms	Stroke, cognitive decline, gait disturbances
Causes	HTRA1 gene mutation
Treatment	Symptomatic management
Frequency	Rare

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

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

Cause

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

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

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

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

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

• Leukoencephalopathy
• Cerebrovascular disease