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] It is caused by a deficiency of the enzyme aminoacylase 2,[4] and is one of a group of genetic diseases referred to as leukodystrophies. It is characterized by degeneration of myelin in the phospholipid layer insulating the axon of a neuron and is associated with a gene located on human chromosome 17.
^Namboodiri, Am; Peethambaran, A; Mathew, R; Sambhu, Pa; Hershfield, J; Moffett, Jr; Madhavarao, Cn (June 2006). "Canavan disease and the role of N-acetylaspartate in myelin synthesis". Molecular and Cellular Endocrinology. 252 (1–2): 216–23. doi:10.1016/j.mce.2006.03.016. PMID 16647192. S2CID 12255670.
^Bokhari, Maria R.; Debopam, Samanta; Bokhari, Syed Rizwan A. (July 6, 2020). "StatPearls". National Center for Biotechnology Information. Archived from the original on 2021-06-10. Retrieved 2021-04-06.
^"Canavan Disease". NORD (National Organization for Rare Disorders). Retrieved 2021-04-06.
^Online Mendelian Inheritance in Man (OMIM): 271900
Canavandisease, or Canavan–Van Bogaert–Bertrand disease, is a rare and fatal autosomal recessive degenerative disease that causes progressive damage to...
leukodystrophy (MLD), (2) Krabbe disease, (3) X-Linked adrenoleukodystrophy (ALD), (4) Canavandisease, and (5) Alexander disease. Each type of leukodystrophy...
Michael Noel Canavan, Irish police officer, recipient of the Scott Medal Myrtelle Canavan, American pathologist who described Canavandisease in 1931 Niall...
Paola Leone is an Italian researcher of Canavandisease, a leukodystrophy. Leone was born and raised in Cagliari, Italy. She received her undergraduate...
leukodystrophies (brain white matter degeneration) such as Alexander disease, Canavandisease, and megalencephalic leukoencephalopathy with subcortical cysts;...
dysmyelination. Human diseases where dysmyelination has been implicated include leukodystrophies (Pelizaeus–Merzbacher disease, Canavandisease, phenylketonuria)...
aspartoacylase activity are associated with Canavandisease, a rare autosomal recessive neurodegenerative disease. Aspartoacylase is a dimer of two identical...
for publishing a description of Canavandisease in 1931. Born in Greenbush Township, near St. Johns, Michigan, Canavan studied at (Michigan) State Agricultural...
type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the...
Multiple sclerosis (MS) is an autoimmune disease in which the insulating covers of nerve cells in the brain and spinal cord are damaged. This damage disrupts...
acquired insult.)[citation needed] Examples include: Alexander diseaseCanavandisease Krabbe disease leukoencephalopathy with vanishing white matter megalencephalic...
pathologist. Myrtelle Canavan (1879–1953), American physician, medical researcher, and one of the first female pathologists (see Canavandisease). Karl Friedrich...
other tumors in the posterior fossa.) Canavandisease COVID-19 Head trauma Lateral medullary syndrome Ménière's disease and other balance disorders Multiple...
Spongy degeneration of the central nervous system, also known as Canavan'sdisease, Van Bogaert-Bertrand type or Aspartoacylase (AspA) deficiency, is...
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