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Genetics Home Reference: your guide to understanding genetic conditions
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Canavan disease

Reviewed January 2008

What is Canavan disease?

Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. 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.

The signs and symptoms of this disease usually begin in early infancy; however, the course of the condition can be quite variable. Infants with Canavan disease typically appear normal for the first few months of life. By age 3 to 5 months, affected infants begin having problems with development, including a delay in motor skills such as turning over, controlling head movement, and sitting without support. These infants typically also have weak muscle tone (hypotonia), unusually large head size (macrocephaly), abnormal posture, and intellectual disability. Feeding and swallowing difficulties, seizures, and sleep disturbances may also develop.

The life expectancy for people with Canavan disease varies. Most affected individuals live only into childhood, although some survive into adolescence or beyond.

How common is Canavan disease?

While this condition occurs in people of all ethnic backgrounds, it is most common in people of Ashkenazi (eastern and central European) Jewish heritage. Studies suggest that this disorder affects 1 in 6,400 to 13,500 people in the Ashkenazi Jewish population. The incidence in other populations is unknown.

What genes are related to Canavan disease?

Mutations in the ASPA gene cause Canavan disease.

The ASPA gene provides instructions for making an enzyme called aspartoacylase. This enzyme normally breaks down a compound called N-acetyl-L-aspartic acid (NAA), which is predominantly found in nerve cells in the brain. Although the precise function of NAA is unclear, it probably plays a role in the production of myelin.

Mutations in the ASPA gene prevent the normal breakdown of NAA. Recent studies suggest that if NAA is not broken down properly, the resulting chemical imbalance may interfere with the formation of myelin as the nervous system develops. A buildup of NAA also leads to the progressive destruction of existing myelin around nerve cells. Nerve fibers without this protective covering malfunction and die, damaging the brain and causing the serious signs and symptoms of Canavan disease.

Related Gene(s)

Changes in this gene are associated with Canavan disease.

  • ASPA

How do people inherit Canavan disease?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of Canavan disease?

These resources address the diagnosis or management of Canavan disease and may include treatment providers.

  • Gene Review: Canavan Disease (http://www.ncbi.nlm.nih.gov/books/NBK1234)
  • Genetic Testing Registry: Spongy degeneration of central nervous system (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0206307)
  • MedlinePlus Encyclopedia: Canavan Disease (http://www.nlm.nih.gov/medlineplus/ency/article/001586.htm)

You might also find information on the diagnosis or management of Canavan disease in Educational resources (http://www.ghr.nlm.nih.gov/condition/canavan-disease/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/canavan-disease/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Canavan disease?

You may find the following resources about Canavan disease helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Canavan disease?

  • ACY2 deficiency
  • Aminoacylase 2 deficiency
  • Aspa deficiency
  • Aspartoacylase deficiency
  • Asp deficiency
  • Canavan-Van Bogaert-Bertrand disease
  • Leukodystrophy, spongiform
  • Spongy degeneration of central nervous system
  • Spongy degeneration of the brain
  • Spongy degeneration of white matter in infancy
  • Van Bogaert-Bertrand syndrome
  • Von Bogaert-Bertrand disease

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Canavan disease?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Canavan disease?

Ashkenazi Jewish ; Asp ; aspartic acid ; autosomal ; autosomal recessive ; breakdown ; cell ; central nervous system ; compound ; deficiency ; disability ; enzyme ; gene ; hypotonia ; incidence ; inherited ; L-aspartic acid ; leukodystrophy ; macrocephaly ; motor ; muscle tone ; nervous system ; population ; recessive ; syndrome ; white matter

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Baslow MH. Canavan's spongiform leukodystrophy: a clinical anatomy of a genetic metabolic CNS disease. J Mol Neurosci. 2000 Oct;15(2):61-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11220786?dopt=Abstract)
  • Feigenbaum A, Moore R, Clarke J, Hewson S, Chitayat D, Ray PN, Stockley TL. Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay. Am J Med Genet A. 2004 Jan 15;124A(2):142-7. (http://www.ncbi.nlm.nih.gov/pubmed/14699612?dopt=Abstract)
  • Gene Review: Canavan Disease (http://www.ncbi.nlm.nih.gov/books/NBK1234)
  • Gordon N. Canavan disease: a review of recent developments. Eur J Paediatr Neurol. 2001;5(2):65-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11589315?dopt=Abstract)
  • Kumar S, Mattan NS, de Vellis J. Canavan disease: a white matter disorder. Ment Retard Dev Disabil Res Rev. 2006;12(2):157-65. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16807907?dopt=Abstract)
  • Namboodiri AM, Peethambaran A, Mathew R, Sambhu PA, Hershfield J, Moffett JR, Madhavarao CN. Canavan disease and the role of N-acetylaspartate in myelin synthesis. Mol Cell Endocrinol. 2006 Jun 27;252(1-2):216-23. Epub 2006 May 2. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16647192?dopt=Abstract)
  • Surendran S, Michals-Matalon K, Quast MJ, Tyring SK, Wei J, Ezell EL, Matalon R. Canavan disease: a monogenic trait with complex genomic interaction. Mol Genet Metab. 2003 Sep-Oct;80(1-2):74-80. Review. Erratum in: Mol Genet Metab. 2006 Mar;87(3):279. (http://www.ncbi.nlm.nih.gov/pubmed/14567959?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2008
Published: December 16, 2014