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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]
The first case of spongy degeneration of the CNS was reported in 1928 by Globus and Strauss, [42] who designated the case as Schilder's disease, a term for diffuse myelinoclastic sclerosis. [43] [44] [45] In 1931, Canavan reported a case where the megalencephaly of brain degeneration is different from that caused by a tumour. [46]
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).
Aminoacylase 2 deficiency - also known as Canavan's disease - is another rare disease caused by a mutation in the ASPA gene (on chromosome 17) that leads to a deficiency in the enzyme aminoacylase 2. Aminoacylase 2 is known for the fact that it can hydrolyze N-acetylaspartate while aminoacylase 1 cannot. [17]
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 ...
The meaning of this fact is controversial. For some investigation teams it means that MS is a heterogeneous disease. Others maintain that the shape of the scars can change with time from one type to other and this could be a marker of the disease evolution. [63] Anyway, the heterogeneity could be true only for the early stage of the disease. [64]
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.
Arts syndrome is a rare metabolic disorder that causes serious neurological problems in males due to a malfunction of the PRPP synthetase 1 enzyme. Arts Syndrome is part of a spectrum of PRPS-1 related disorders with reduced activity of the enzyme that includes Charcot–Marie–Tooth disease and X-linked non-syndromic sensorineural deafness.