- Last Updated: Wednesday, 16 September 2015 11:46
What is Canavan disease?
Canavan is a progressive neurological genetic disorder caused by the absence of a vital enzyme known as aspartoacylase (ASPA). ASPA breaks N-acetylaspartate acid (NAA) into building blocks essential for building myelin. Myelin is a fatty membrane (also known as white matter) that forms a proactive coating around each nerve ensuring the nerve functions properly. It is one of over 50 genetically inherited disorders known as Leukodystrophies Diseases. A cure for Canavan does not yet exist but there are many strategies for managing life with Canavan disease.
The disease is named for Myrtelle Canavan who first described the disorder in 1931. She was one of the first female pathologists and is best known for her description of Canavan.
In 1993 Dr. Rueben Matalon discovered the gene that causes Canavan from tissues provided by several Canavan families. This discovery led to carrier screening and prenatal testing for the disease.
Who is at risk of having Canavan disease?
Anyone can be a carrier of Canavan disease and not have any symptoms. When both parents are carriers, each child has a 25% of having the disease. The carrier rate for the general population is 1/300. Ashkenazi Jews are at high risk with a carrier rate of 1/40. Read more About Inheritance.
Talk to your doctor about Genetic Counseling to discuss your options before starting your family.
What are the symptoms of Canavan disease?
A baby with Canavan may appear normal at birth and typically develops normally for several months. Sometimes symptoms are noticeable at birth. As development slows, parents may notice a reduction in vision and tracking.
What causes Canavan disease?
Canavan disease is caused by the absence of a vital enzyme called aspartoacylase (ASPA). ASPA breaks N-acetylaspartate acid (NAA) into building blocks essential for building myelin. Myelin is a fatty membrane (also known as white matter) that forms a proactive coating around each nerve ensuring the nerve functions properly.
How is Canavan disease diagnosed?
Canavan disease is diagnosed through a combination of biochemical and DNA tests. Increased amounts of N-acetylaspartic acid (NAA) is found in the urine. Profound deficiency of aspartoacylase is found in cultured skin fibroblasts. Known disease-causing mutations are frequently found through DNA testing. Occasionally, known mutations are not found suggesting novel (or unknown) mutations.
How do I get help coping with Canavan disease?
There is no treatment or cure for Canavan disease but there are ways to manage symptoms.
NTSAD is the largest organization dedicated to supporting families with members having Canavan, GM1, Sandhoff, or Tay-Sachs - allied diseases that have common symptoms and ways to manage them. We have compiled many resources for family members, provide weekly and monthly updates on events and research, and organize an annual family conference specifically for family members.
Explore the Support web pages:
What research is being done to find a cure for Canavan disease?
To date, there is no treatment or cure for Canavan disease but research is making exciting advances towards a treatment and a cure. Research includes gene therapy, stem cell therapy and acetate supplement.
Where can I research more about Canavan disease?
Orphanet, Online Rare Disease & Orphan Drugs
Canavan Summary and Online Resources
OMIM database of of human genes and genetic phenotypes
Canavan Research Foundation