Canavan disease - Wikipedia
Canavan disease, or Canavan–Van Bogaert–Bertrand disease, is a rare and fatal autosomal recessive [1] degenerative disease that causes progressive damage to nerve cells and loss of white matter in the brain. [2] It is one of the most common …
Canavan Disease: Canavan Syndrome - Cleveland Clinic
Canavan disease is a rare genetic disorder that affects your brain’s white matter. The infantile type usually causes severe complications and early death. The juvenile type often involves only minor developmental delays. DNA tests can detect if a person has the genetic mutation.
Canavan Disease - Symptoms, Causes, Treatment | NORD
2024年9月24日 · Canavan disease is a rare genetic neurological disorder characterized by the spongy degeneration of the white matter in the brain. Affected infants may appear normal at birth, but usually develop symptoms between 3-6 months of age.
Canavan disease | About the Disease | GARD - Genetic and Rare …
Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.
Canavan Disease - StatPearls - NCBI Bookshelf
2023年7月3日 · Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, is a rare, progressive, and fatal neurological hereditary disorder that begins in infancy. It is part of a group of genetic diseases referred to as leukodystrophies.
Canavan disease - MedlinePlus
Canavan disease is a rare inherited disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages. This disease is one of a group of genetic disorders called leukodystrophies.
Canavan Disease: Symptoms, Treatment, Complications, and More - Healthline
2017年10月18日 · Canavan disease is a hereditary condition that prevents the brain’s nerve cells (neurons) from properly sending and receiving information. Although this fatal neurological...
Canavan Disease - GeneReviews® - NCBI Bookshelf
1999年9月16日 · Canavan disease is a leukodystrophy characterized by neurodevelopmental delays, macrocephaly, and tone abnormalities. The phenotypic spectrum ranges from the more severe typical Canavan disease (85%-90% of individuals) to the less severe atypical Canavan disease (10%-15%).
Canavan Disease - United Leukodystrophy Foundation
Canavan Disease is inherited in an autosomally recessive fashion and is caused by a deficiency in the gene encoding a protein called aspartoacylase.
Canavan Disease - BrainFacts
Canavan disease is a gene-linked neurological disorder in which the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces. Canavan disease has been classified as one of a group of genetic disorders known as the leukodystrophies.