Canavan disease

What causes 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. The precise function of NAA is unclear. At one time, NAA was thought to have a role in the production of the myelin sheath. Now it seems that this enzyme may be involved in the transport of water molecules out of neurons .

Mutations in the ASPA gene reduce the function of aspartoacylase, which prevents the normal breakdown of NAA. An excess of NAA in the brain is associated with the signs and symptoms of Canavan disease. 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 which disrupts normal brain development.

Last updated on 05-01-20

Last updated on 05-01-20

Is Canavan disease inherited?

Yes. Canavan disease 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. When both parents are found to carry the Canavan gene mutation, there is a one in four (25%) chance with each pregnancy that the resulting child will be affected with Canavan disease.

Last updated on 05-01-20

Are nervous moods, lack of sleep and fever common features of Canavan disease?

Children with Canavan disease may be irritable and over time experience sleep disturbances. While fever is not a symptom, per se, these children may develop infections which can be accompanied by fever. We strongly recommend that you discuss your child's symptoms with your pediatrician.

Last updated on 05-01-20

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 disrupt the growth or maintenance of the myelin sheath, which is the fatty covering that insulates nerve fibers. Canavan disease is caused by mutations in the ASPA gene and is inherited in an autosomal recessive pattern. 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.

Last updated on 05-01-20

What is the prognosis for individuals with Canavan disease?

The prognosis for Canavan disease is poor. Life expectancy is variable. Some children die in the first few years of life while others may survive into their teens and twenties. Prognosis often depends upon the clinical course of the disease as well as the level of medical care provided.

Last updated on 05-01-20

How might Canavan disease be treated?

Canavan disease causes progressive brain atrophy. There is no cure, nor is there a standard course of treatment. Treatment is symptomatic and supportive. Management may include provision of adequate nutrition and hydration, treatment of infectious diseases, and protection of the airway. Physical therapy may help to minimize contractures and maximize motor abilities and seating posture. Special education programs can enhance communication skills. Seizures are treated with anti-epileptic drugs. Gastrostomy can help to maintain adequate food intake and hydration when swallowing difficulties exist.

Last updated on 05-01-20

Patient Registry

Canavan Disease Patient Insight Network

The Canavan Disease Patient Insight Network (PIN) is a shared network that collects experiences directly from patients and families. PIN serves to create a research-ready community that can help drug developers and researchers get closer to finding targeted treatments and a cure.

Last updated on 04-27-20

Name: Center for Jewish Genetics 30 South Wells St.
Chicago, IL, 60606, United States
Phone: 312-357-4717 Fax : 312-855-3295 Email: Url:
Name: Jewish Genetic Disease Consortium (JGDC) 450 West End Ave., 6A
New York, NY, 10024, United States
Phone: 855-642-6900 Toll Free: 866-370-GENE (4363) Fax : 212-873-7892 Email: Url:
Name: Canavan Foundation 450 West End Avenue, #6A
New York, NY, 10024, United States
Phone: 212-873-4640 Toll Free: 877-4-CANAVAN Fax : 212-873-7892 Email: Url:
Name: Canavan Research Foundation 88 Route 37
New Fairfield, CT, 06812 , United States
Phone: 203-746-2436 Fax : 203-746-3205 Email: Url:
Name: Canavan Research Illinois PO Box 8194
Rolling Meadows, IL, 60008-8194 , United States
Toll Free: 800-833-2194 Email: Url:
Roscoe RB, Elliott C, Zarros A, Baillie GS. Non-genetic therapeutic approaches to Canavan disease. J Neurol Sci. Jul 15, 2016; 366. 116-124. Reference Link Hoshino H, Kubota M. Canavan disease: clinical features and recent advances in research Pediatr Int. Aug 2014; 56(4). 477-83. Reference Link Kronn D, Oddoux C, Phillips J, Ostrer H. Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population. Am J Hum Genet. 1995; 57(5). 1250-1252. Reference Link Feigenbaum A, Moore R, Clarke J, et al. Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay. AM J Med Genet A. 2004; 124A. 142-147. Reference Link Bokhari MR, Samanta D, Bokhari SRA. Canavan Disease StatPearls. Updated Feb 21, 2020; Reference Link

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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