National Organization for Rare Disorders, Inc.
It is possible that the main title of the report CARASIL is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Synonyms Back to top
- cerebral autosomal recessive arteriopathy w/subcortical
- infarcts and leukoencephalopathy
- Maeda syndrome
Disorder Subdivisions Back to top
General Discussion Back to top
CARASIL is an extremely rare genetic disorder that is characterized by damage to the very 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.
Resources Back to top
United Leukodystrophy Foundation
2304 Highland Drive
Sycamore, IL 60718
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
For a Complete Report Back to top
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
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Last Updated: 8/26/2010
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