Is there a cure for Canavan disease?
Is there a cure for Canavan disease?
Canavan disease causes progressive brain atrophy. There is no cure, nor is there a standard course of treatment. Treatment is symptomatic and supportive.
What is the inheritance pattern of Canavan disease?
Canavan disease is inherited in an autosomal recessive pattern. All individuals inherit two copies of each gene . Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must be altered to have the condition.
What does it mean if you are Ashkenazi?
The term “Ashkenazi” refers to Jewish settlers who established communities along the Rhine river in Western Germany and in Northern France dating to the Middle Ages. Once there, they adapted traditions carried from Babylon, the Holy Land, and the Western Mediterranean to their new environment.
What tribe are the Ashkenazi from?
Most Ashkenazi Jews, traditionally believed to have descended from the ancient tribes of Israel, may in fact be maternally descended from prehistoric Europeans.
Where can I find information on Canavan disease?
Genetics Home Reference (GHR) contains information on Canavan disease. This website is maintained by the National Library of Medicine. The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders.
Is there a cure for Canavan brain disease?
Canavan disease causes progressive brain atrophy. There is no cure, nor is there a standard course of treatment. Treatment is symptomatic and supportive. Canavan disease is a gene-linked neurological disorder in which the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces.
What causes Canavan disease in the human brain?
Canavan disease is caused by mutation in the gene for an enzyme called aspartoacylase, which acts to break down the concentrated brain chemi… Canavan disease is a gene-linked neurological disorder in which the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces.
How is Canavan disease related to 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.
Where can I find information about Canavan disease?
Other Organizations Canavan Disease Canavan Foundation 450 West End Avenue, #6A Canavan Research Foundation 88 Rt. 37 Canavan Research Illinois P.O. Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Kennedy Krieger Institute 707 North Broadway March of Dimes 1275 Mamaroneck Avenue
How is gene therapy used to treat Canavan disease?
Investigational Therapies. Researchers are studying gene therapy for the treatment of children with Canavan disease. In gene therapy, healthy copies of the defective ASPA gene are inserted into the brains of affected children. These genes then produce the enzyme aspartoacylase required to breakdown NAA.
Is the risk of Canavan disease the same for males and females?
The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females. The defective gene responsible for Canavan disease has been mapped to chromosome 17 (17pter-p13).
How is Canavan disease an autosomal recessive trait?
Canavan disease is caused by disruptions or changes (mutations) to the aspartoacylase (ASPA) gene. This mutation is inherited as an autosomal recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.