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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]
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).
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]
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.
Former Rep. Lee Zeldin, Trump's pick to lead the EPA, made $186,000 from paid op-eds and speeches. Some of those op-eds criticized climate policies and ESG. The former NY congressman also made ...
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.
It consists of ordinal rating system ranging from 0 (normal neurological status) to 10 (death due to MS) in 0.5 increments interval (when reaching EDSS 1). The lower scale values of the EDSS measure impairments based on the neurological examination, while the upper range of the scale (> EDSS 6) measures handicaps of patients with MS.