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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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Overview

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments. This progressive condition is characterized by muscle stiffness, mood and personality changes, dementia, memory loss, alopecia of the scalp, and attacks of low back pain. CARASIL is caused by mutations in the HTRA1 gene. It is inherited in an autosomal recessive pattern.[1]
Last updated: 12/21/2011

References

  1. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. Genetics Home Reference (GHR). April 2011; http://ghr.nlm.nih.gov/condition/cerebral-autosomal-recessive-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy. Accessed 12/21/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. Click on the link to view a sample search on this topic.
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.