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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy


Other Names for this Disease

  • CARASIL
  • Cerebrovascular disease with thin skin, alopecia, and disc disease
  • Maeda syndrome
  • Subcortical vascular encephalopathy, progressive
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Your Question

Is cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) found in Caucasian men?  I have read descriptions of this disease that indicated it has been found in only 50 people in China and Japan.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Is cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) found in Caucasian men?

According to the medical literature, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) has not yet been found in a Caucasian individual.  Approximately 50 cases of this condition have been identified: all were Japanese except two siblings who were Chinese.[1]  Though there are no official reports of an individual of another ethnicity being diagnosed with this condition, CARASIL is caused by changes (mutations) in the HTRA1 gene, and individuals of every ethnicity have this gene.  Therefore, it is possible that an individual of any ethnicity could be diagnosed with this condition.[1]
Last updated: 2/22/2012

References
  • Fukutake T. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification. Journal of stroke and cerebrovascular diseases. 2011; 20:85-93. http://www.ncbi.nlm.nih.gov/pubmed/21215656. Accessed 2/16/2012.
Other Names for this Disease
  • CARASIL
  • Cerebrovascular disease with thin skin, alopecia, and disc disease
  • Maeda syndrome
  • Subcortical vascular encephalopathy, progressive
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.