"Canavan Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)
Descriptor ID |
D017825
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MeSH Number(s) |
C10.228.140.163.100.362.375 C10.228.140.695.625.375 C10.314.400.375 C10.574.500.300 C16.320.400.150 C16.320.565.189.362.375 C18.452.132.100.362.375 C18.452.648.189.362.375
|
Concept/Terms |
Canavan Disease- Canavan Disease
- Disease, Canavan
- Leukodystrophy, Spongiform
- Spongiform Leukodystrophy
- Spongy Degeneration Of Central Nervous System
- Spongy Degeneration of Infancy
- Spongy Degeneration of the Brain
- Spongy Degeneration of White Matter In Infancy
- Spongy Disease of Central Nervous System
- Spongy Disease of White Matter
- Van Bogaert-Bertrand Syndrome
- Syndrome, Van Bogaert-Bertrand
- Van Bogaert Bertrand Syndrome
- Von Bogaert-Bertrand Disease
- Disease, Von Bogaert-Bertrand
- Von Bogaert Bertrand Disease
- Canavan-van Bogaert-Bertrand Disease
- Canavan van Bogaert Bertrand Disease
- Disease, Canavan-van Bogaert-Bertrand
- Spongy Degeneration of the Central Nervous System
Aminoacylase 2 Deficiency- Aminoacylase 2 Deficiency
- Deficiency Disease, Aspartoacylase
- ASPA Deficiency
- Aspartoacylase Deficiency
- ACY2 Deficiency
- ASP Deficiency
|
Below are MeSH descriptors whose meaning is more general than "Canavan Disease".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.163.100.362]
- Canavan Disease [C10.228.140.163.100.362.375]
- Leukoencephalopathies [C10.228.140.695]
- Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.695.625]
- Canavan Disease [C10.228.140.695.625.375]
- Demyelinating Diseases [C10.314]
- Hereditary Central Nervous System Demyelinating Diseases [C10.314.400]
- Canavan Disease [C10.314.400.375]
- Neurodegenerative Diseases [C10.574]
- Heredodegenerative Disorders, Nervous System [C10.574.500]
- Canavan Disease [C10.574.500.300]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Heredodegenerative Disorders, Nervous System [C16.320.400]
- Canavan Disease [C16.320.400.150]
- Metabolism, Inborn Errors [C16.320.565]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Hereditary Central Nervous System Demyelinating Diseases [C16.320.565.189.362]
- Canavan Disease [C16.320.565.189.362.375]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Hereditary Central Nervous System Demyelinating Diseases [C18.452.132.100.362]
- Canavan Disease [C18.452.132.100.362.375]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Hereditary Central Nervous System Demyelinating Diseases [C18.452.648.189.362]
- Canavan Disease [C18.452.648.189.362.375]
Below are MeSH descriptors whose meaning is more specific than "Canavan Disease".
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