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.
Canavan disease is not a sex-linked genetic disorder. It is an autosomal recessive disorder, meaning that both parents must pass on a copy of the mutated gene in order for an individual to inherit the disease.
Signs of Canavan disease normally become apparent around 6 months of age when an infant is not meeting normal milestones such as holding up his/her head. The lifespan for children with Canavan disease is generally 3-10 years if untreated, although some children have lived into their twenties.
Huntington's disease
Cystic fibrosis is one.
yes
Canavan disease is named after Dr. Myrtelle Canavan
Dr. Myrtelle Canavan
Canavan disease is also called aspartoacylase deficiency
It was not until 1949, that Canavan disease was recognized as a unique genetic disease by Van Bogaert and Betrand
Canavan disease, also referred to as spongy degeneration of the CNS, is autosomal recessive, secondary to mutations in the aspartoacylase gene (ASPA). Symptoms typically begin two to four months after birth, with death occurring by 10 years of age
People with Canavan disease typically have disproportionately large heads
Some people with Canavan disease may eventually become blind
DNA testing is the only means of identifying carriers of Canavan disease
I was doing a presentation on Canavan Disease and had a lot of trouble finding wether it was dominant or recessive. I found the answer and thought i should make it easier for others. Canavan Disease is recessive
Most infants with Canavan disease appear normal for the first month of life
People of Saudi Arabian descent also have a relatively high risk of Canavan disease