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.

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.

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.

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.

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.

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.

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.