Search results
Results From The WOW.Com Content Network
Symptoms of the most common (and most serious) form of Canavan disease typically appear in early infancy usually between the first three to six months of age. [4] Canavan disease then progresses rapidly from that stage, with typical cases involving intellectual disability, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (i.e., initial floppiness ...
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]
Canavan disease is a rare autosomal recessive disorder that causes spongy degeneration of the white matter in the brain and severe psychomotor retardation, usually leading to death at a young age. [ 12 ] [ 20 ] The loss of aspartoacylase activity leads to the buildup of N-acetyl-L-aspartate in the brain and an increase in urine concentration by ...
Maps show the areas impacted by storm surge, rainfall levels and more as Helene, once a major hurricane and now a tropical storm, moves inland from Florida's Gulf Coast over Georgia.
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.
Paola Leone is an Italian researcher of Canavan disease, a leukodystrophy. Leone was born and raised in Cagliari, Italy. She received her undergraduate and graduate training in Italy, followed by post-doctoral studies in Montreal and Yale University in New Haven, CT. She holds a doctorate degree in Neuroscience from the University of Padua. [1]