What is canavan disease

Citation, DOI and article data. Gaillard, F. Canavan disease. Reference article, Radiopaedia. Central Nervous System , Paediatrics. Canavan's disease Spongiform degeneration of white matter Spongy degeneration of the brain Aspartoacylase deficiency.

URL of Article. On this page:. Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population. American journal of human genetics. Pubmed 2. Traeger EC, Rapin I. The clinical course of Canavan disease.

Pediatric neurology. Pubmed 3. Spongy degeneration of the central nervous system van Bogaert and Bertrand type; Canavan's disease. A review. Human pathology. Pubmed 4. Gordon N. Canavan disease: a review of recent developments. The disease is named for Myrtelle Canavan who first described the disorder in She was one of the first female pathologists and is best known for her description of Canavan.

In 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.

Anyone can be a carrier of Canavan disease and not have any symptoms. Read more About Inheritance. Talk to your doctor about Genetic Counseling to discuss your options before starting your family. 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. Canavan disease is caused by the absence of a vital enzyme called aspartoacylase ASPA.

Canavan disease is diagnosed through a combination of biochemical and DNA tests. Increased amounts of N-acetylaspartic acid NAA is found in the urine. This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Genetics Home Reference has merged with MedlinePlus. Learn more. The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health. Canavan disease.

From Genetics Home Reference. Description Canavan disease is a rare inherited disorder that damages the ability of nerve cells neurons in the brain to send and receive messages. Frequency While this condition occurs in people of all ethnic backgrounds, it is most common in people of Ashkenazi eastern and central European Jewish heritage.

Inheritance This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. Research Studies from ClinicalTrials. Canavan disease, a rare early-onset human spongiform leukodystrophy: insights into its genesis and possible clinical interventions.

Epub Nov Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay. Am J Med Genet A. Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model.