National Organization for Rare Disorders, Inc.
It is possible that the main title of the report CARASIL is not the name you expected.
CARASIL is an extremely rare genetic disorder that is characterized by damage to the small blood vessels in the brain. Individuals with CARASIL are at risk of developing multiple strokes, even if they do not have cardiovascular risk factors. The symptoms of CARASIL result from damage to various small blood vessels, especially those within the brain. Individuals with CARASIL may develop a variety of symptoms relating to white matter involvement or leukoaraiosis (changes in deep white matter in the brain, which are observed on MRI or CT). Such symptoms include an increasing muscle tone (spasticity), pyramidal signs, and pseudobulbar palsy beginning ages between 20 and 30 year. Pseudobulbar palsy is a group of neurologic symptoms including difficult chewing, swallowing and speech. Eventually, cognitive impairment and dementia may result. About half of cases have a stroke-like episode. The age of onset is 20 to 50 years old. CARASIL is an acronym that stands for:
(C)erebral - relating to the brain or the cerebellum, which the is part of the brain that controls balance and muscular coordination.
(A)utosomal (R)ecessive - a form of inheritance in which two copies (one from each parent) of an abnormal gene is necessary for the development of a disorder.
(A)rteriopathy - disease of the small arteries (blood vessels that carry blood away from the heart).
(S)ubcortical - relating to a specific area of the deep brain that is involved in higher functioning (e.g., voluntary movements, reasoning, memory).
(I)nfarcts - tissue loss in the cerebellum caused by lack of oxygen to the brain, which occurs when blood flow in the small arteries is blocked or abnormal.
(L)eukoencephalopathy - destruction of the myelin, an oily substance that covers and protects nerve fibers in the central nervous system.
NIH/National Institute of Neurological Disorders and Stroke
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United Leukodystrophy Foundation
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Last Updated: 2/20/2013
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