National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy



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.

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

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  1. 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.