Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), also known as Maeda syndrome or Nemoto disease, is a rare hereditary small vessel disease of the brain caused by mutations in the HTRA1 gene. Unlike its more common counterpart CADASIL, CARASIL follows an autosomal recessive inheritance pattern and typically presents in young adulthood. The disease primarily affects the small blood vessels of the brain, leading to progressive damage to the white matter (leukoencephalopathy) and recurrent subcortical ischemic strokes. The hallmark clinical features of CARASIL include early-onset stroke (typically between ages 20 and 40), progressive cognitive decline leading to dementia, mood disturbances, and gait difficulties. Distinctive extraneurological features help differentiate CARASIL from other cerebral small vessel diseases: patients frequently develop premature alopecia (hair loss), often beginning in adolescence, and spondylosis deformans (degenerative spinal disease) with severe low back pain, which may precede neurological symptoms. Brain MRI characteristically shows diffuse white matter hyperintensities and lacunar infarcts in the deep brain structures, particularly the basal ganglia and thalamus. There is currently no specific or curative treatment for CARASIL. Management is supportive and symptomatic, focusing on stroke prevention, rehabilitation, and management of cognitive and psychiatric symptoms. Vascular risk factor control is generally recommended, although the disease progresses independently of traditional cardiovascular risk factors. The prognosis is poor, with most patients developing significant disability and dementia within one to two decades of symptom onset. Genetic counseling is recommended for affected families.

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