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Diseases

Genetic and Rare Diseases Information Center (GARD)

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy


Other Names for this Disease
  • CARASIL
  • Maeda syndrome
  • Subcortical vascular encephalopathy, progressive
  • Cerebrovascular disease with thin skin, alopecia, and disc disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • 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
  • Maeda syndrome
  • Subcortical vascular encephalopathy, progressive
  • Cerebrovascular disease with thin skin, alopecia, and disc disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.