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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 symptoms in the terminal stage of disease development are sweating, emesis, hyperthermia, seizures, and hypotension, which usually results in the death of the child. [13] Life expectancies of affected infants vary, but most infants do not live past the age of ten. [5] Facial view of an infant with macrocephaly
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).
Motor function and development will also be assessed. For more information about the CANaspire trial, visit TreatCanavan.com or ClinicalTrials.gov (NCT04998396). About Canavan Disease Affecting approximately 1,000 children in the U.S. and European Union, Canavan disease is an ultra-rare, disabling and fatal disease with no approved therapy ...
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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 ...
Motor function and development will also be assessed. For more information about the CANaspire trial, visit TreatCanavan.com or ClinicalTrials.gov (NCT04998396). About Canavan Disease Affecting approximately 1,000 children in the U.S. and European Union, Canavan disease is an ultra-rare, disabling and fatal disease with no approved therapy ...
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.