What does CARASIL stand for?

The letters forming the disease name "CARASIL" stand for the underlying medical problems in CARASIL combined with the pattern in which it runs in families: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.

C = Cerebral: Found in the large part of the brain, known as the cerebrum. This part of the brain does many things including allowing movement of body parts on purpose, memory, thinking, and decision making.

AR= Autosomal Recessive: CARASIL runs in families in an autosomal recessive pattern. This means that an individual has to inherit two nonworking copies of a specific gene, one from each parent, in order to show symptoms of the disease or condition.

ASIL= Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A disease of the blood vessels (the arteries) with small areas of dead tissue resulting from lack of oxygen to the cells (infarcts/stroke damage) and nerve fiber disease (white matter changes) in the deep part of the brain under the outer layer of the cerebrum (the cortex).

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