Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Canavan-van Bogaert-Bertrand disease
  • Spongy degeneration of the central nervous system
  • Von Bogaert-Bertrand disease
  • Aspartoacylase deficiency
  • ASPA deficiency
  • ASP deficiency
  • ACY2 deficiency
  • Aminoacylase 2 deficiency
Printer Friendly printer friendly version
Home > Genetic & Rare Diseases Information Center (GARD) > Canavan disease



Canavan disease
Please note that the links contained on this search results page may take you to sites outside of the NIH. (See Disclaimer under Site Policies for details.)
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
  1. Canavan disease. Genetics Home Reference (GHR). 2008 Available at: http://ghr.nlm.nih.gov/condition=canavandisease. Accessed July 21, 2009.
  2. NINDS Canavan Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2008 Available at: http://www.ninds.nih.gov/disorders/canavan/canavan.htm. Accessed July 21, 2009.
  3. Haldeman- Englert C. Canavan disease. MedlinePlus. 2008 Available at: http://www.nlm.nih.gov/medlineplus/ency/article/001586.htm. Accessed July 21, 2009.

Questions & Answers (Found 1 Question)
A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.
Show All Resources


For more information about Canavan disease click on the boxes below:
More Detailed Information NLM Gateway Services Scientific Conferences Support Groups Clinical Trials & Research
 General | Management Guidelines
More Detailed Information (Found 10 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates

  • General

    • The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic.
    • Genetics Home Reference (GHR) contains a condition summary on Canavan disease. Click on the link to go to GHR and review this summary.
    • MedlinePlus, a Web site designed by the National Library of Medicine Web site 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.
    • 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.
    • Orphanet is a database dedicated to 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 Social Security Administration (SSA) created the Compassionate Allowance Initiative to speed up the processing of disability claims for applicants with certain conditions. Click on the link to view the Compassionate Allowance information for this condition. More information about applying for Social Security disability benefits is available online.
      Link: https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022130
  • Management Guidelines

    • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
 
NLM Gateway (Found 1 resource)
A tool to search across multiple resources offered on the National Library of Medicine's Website

    • NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.
 Testing | Genetic Services
Services (Found 3 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories

  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
    • Orphanet lists international laboratories offering diagnostic testing for this condition. Click here and scroll down the page to learn more about the processes of certification, accreditation, and external quality assessment available to these labs. Click on Orphanet to view the list.
  • Genetic Services

    • We recommend that you discuss this information and your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:

       * GeneClinics - A searchable directory of US and international genetics and prenatal diagnosis clinics. To locate genetics clinics in the United States, go to the following link and click on 'Clinic Directory' to find a genetic service close to you. 

        * ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
 
Scientific Conferences (Found 1 resource)
Completed and upcoming scientific conferences and programs that have been sponsored by the National Institutes of Health
 Umbrella Organizations | Disease-Specific Organizations | Live Chat/E-mail Lists | Parent Matching Organizations
Support Groups (Found 10 resources)
Groups providing a wide range of services, supportive resources, and information
 
Clinical Trials & Research (Found 3 resources)
Resources where you may find research studies and clinical trials

    • ClinicalTrials.gov lists trials that are studying or have studied Canavan disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
    • GeneTests lists laboratories offering research genetic testing for this condition. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases test results are not shared with the patient or physician. Talk to your health care provider or a genetic professional to learn more about research testing for this condition.
    • Orphanet lists clinical trials, research studies, and patient registries enrolling people with this condition. Click on Orphanet to view the list.

Department of Health & Human Services National Institutes of Health USA.gov - government made easy


Note: If you need help accessing information in different file formats such as PDF, MP3, see Viewers, Players, and Plug-ins.