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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 was first described in 1931 by Myrtelle Canavan. [17] In 1931, she co-wrote a paper discussing the case of a child who had died at 16 months old and whose brain had a spongy white section. Canavan was the first to identify this degenerative disorder of the central nervous system, which was later named Canavan disease. [18]
Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.
Whether they constitute a separate disease is still an open subject. Anyway, even this pubertal MS could be more than one disease, because early-onset and late-onset have different demyelination patterns. [150] Pediatric MS patients tend to have active inflammatory disease course with a tendency to have brainstem / cerebellar presentations at ...
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]
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]
The subclinical (pre-symptomatic) and clinical (symptomatic) evolution of disease is the natural progression of a disease without any medical intervention. It constitutes the course of biological events that occurs during the development of the origin of the diseases [4] to its outcome, whether that be recovery, chronicity, or death. [5]