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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 degenerative cerebral diseases of infancy. [3]
Canavan's disease, Van Bogaert-Bertrand type, Aspartoacylase deficiency: Magnetic resonance imaging scans showing dysmyelination, a possible indicator of Canavan's disease: Specialty: Neurology: Symptoms: Hypotonia, macrocephaly, loss of vision, motor reflex defects, difficulties in breathing and swallowing: Usual onset: 3-6 months of age ...
Canavan disease is a less-studied type of leukodystrophy that, like MLD and Krabbe disease, is also inherited in an autosomal recessive pattern. It is due to a mutation in the ASPA gene that encodes aspartoacylase , an enzyme needed to metabolize N-acetyl-L-aspartate (NAA).
The plaintiffs in this case were a group of parents of children who had Canavan disease and three non-profit organizations who developed a confidential Canavan disease registry and database. [1] The parents provided their children's tissue for research on the disease and the non-profit groups aided in the identification of other affected ...
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Myrtelle May Moore Canavan [1] (June 24, 1879 – August 4, 1953) was an American physician and medical researcher. She was one of the first female pathologists and is best known for publishing a description of Canavan disease in 1931.
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