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Canavan disease
Other Names for this Disease
- ACY2 deficiency
- Aminoacylase 2 deficiency
- ASP deficiency
- ASPA deficiency
- Aspartoacylase deficiency
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Overview
Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain.[1] This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are characterized by degeneration of myelin, which is the fatty covering that insulates nerve fibers.[1][2] Canavan disease is caused by mutations in the ASPA gene and is inherited in an autosomal recessive pattern.[1][3] While it occurs in people of all ethnic backgrounds, it is most common in people of Ashkenazi (eastern and central European) Jewish heritage, and among Saudi Arabians.[1][2][3]
References
- Canavan disease. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition=canavandisease. Accessed July 21, 2009.
- NINDS Canavan Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). http://www.ninds.nih.gov/disorders/canavan/canavan.htm. Accessed July 21, 2009.
- Haldeman- Englert C. Canavan disease. MedlinePlus. http://www.nlm.nih.gov/medlineplus/ency/article/001586.htm. Accessed July 21, 2009.
Your Questions Answered
by the Genetic and Rare Diseases Information Center1 question(s) from the public on Canavan disease have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- Genetics Home Reference (GHR) contains information on Canavan disease. Click on the link to go to GHR and review the information.
- MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Canavan disease. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Canavan disease. Click on the link to go to OMIM and review these resources.
Insurance Issues
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.