Genetics
Canavan disease is caused by a defective aspa gene. This gene is located on the p arm of chromosome 17, and is responsible for the production of the enzyme aspartoacylase. This deficiency leads to the buildup of N-acetylaspartic acid (NAA) in the brain. The accumulated NAA causes a chemical imbalance resulting in myelin destruction. Canavan disease is an autosomal recessive disorder.
Incidence
- Affects approximately 1in 6,400 people of Jewish ancestry
- It is estimated that 1 in 40 Ashkenazi Jewish individuals are carriers
Symptoms/Characteristics
- Mental retardation, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (specifically floppiness or stiffness), poor head control, and megalocephaly
- Paralysis, blindness, or seizures may occur
- Symptoms appear in early infancy and progress rapidly
- Children with Canavan disease cannot crawl, walk, sit or talk
- Most children with Canavan disease will not live past the age of ten
Clinical Managements
There is currently no cure or effective treatment for Canavan disease