Canavan disease is also called aspartoacylase deficiency
Canavan disease is also called aspartoacylase deficiency
Spongy degeneration of the brain is also called Canavan disease
Infantile spongy degeneration is also called Canavan disease
Canavan disease is named after Dr. Myrtelle Canavan
People of Saudi Arabian descent also have a relatively high risk of Canavan disease
Canavan disease is sometimes called spongy degeneration of the brain since it is characterized by a sponginess or swelling of the brain cells and a destruction of the white matter of the brain
Jacob's Cure is one of the largest funders of Canavan disease research in the United States and also provides family support.
Dr. Myrtelle Canavan
Yes, Canavan disease is caused by a mutation in the ASPA gene. This gene provides instructions for making an enzyme called aspartoacylase, which is essential for the breakdown of a compound called N-acetylaspartate. Mutations in the ASPA gene lead to the accumulation of N-acetylaspartate in the brain, causing the characteristic features of Canavan disease.
It was not until 1949, that Canavan disease was recognized as a unique genetic disease by Van Bogaert and Betrand
People with Canavan disease typically have disproportionately large heads
Some people with Canavan disease may eventually become blind