loading...| Preferred Name |
Canavan Disease |
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| Synonyms |
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| Definitions |
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 (MeSH). |
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| ID |
http://uri.neuinfo.org/nif/nifstd/birnlex_12529 |
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| createdDate |
2007-10-05 |
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| definingCitation |
Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71 |
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| definingCitationURI | ||
| definition |
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 (MeSH). |
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| hasExternalSource | ||
| label |
Canavan Disease |
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| MeshUid |
D017825 |
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| modifiedDate |
April 11, 2009 |
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| preferred label |
Canavan Disease |
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| scope note |
Do not confuse X ref CANAVAN-VAN BOGAERT-BERTRAND DISEASE with VAN BOGAERT'S LEUKOENCEPHALITIS see SUBACUTE SCLEROSING PANENCEPHALITIS (MeSH). |
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| synonym |
Spongy Disease of White Matter Aspartoacylase Deficiency Disease Canavan-van Bogaert-Bertrand Disease Spongy Disease of Central Nervous System Familial Form of Canavan Disease Leukodystrophy, Spongiform Canavan's Disease Canavans Disease |
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