Canavan Disease
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)
Year introduced: 1994
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Subheadings:
Tree 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
MeSH Unique ID: D017825
Entry Terms:
- Disease, Canavan
- Leukodystrophy, Spongiform
- Spongiform Leukodystrophy
- Spongy Disease of White Matter
- Spongy Degeneration of Infancy
- Von Bogaert-Bertrand Disease
- Disease, Von Bogaert-Bertrand
- Von Bogaert Bertrand Disease
- Spongy Degeneration of the Central Nervous System
- Spongy Degeneration Of Central Nervous System
- Spongy Degeneration of White Matter In Infancy
- Spongy Degeneration of the Brain
- Van Bogaert-Bertrand Syndrome
- Syndrome, Van Bogaert-Bertrand
- Van Bogaert Bertrand Syndrome
- Canavan-van Bogaert-Bertrand Disease
- Canavan van Bogaert Bertrand Disease
- Disease, Canavan-van Bogaert-Bertrand
- Spongy Disease of Central Nervous System
- Canavan Disease, Familial Form
- Familial Form of Canavan Disease
- Canavan Disease, Infantile
- Canavan Disease, Type II
- Infantile Canavan Disease
- Type II Canavan Disease
- Canavan Disease, Juvenile
- Canavan Disease, Type III
- Juvenile Canavan Disease
- Type III Canavan Disease
- Canavan Disease, Neonatal
- Canavan Disease, Type I
- Neonatal Canavan Disease
- Type I Canavan Disease
- Canavan Disease, Sporadic Form
- Sporadic Form of Canavan Disease
- Aminoacylase 2 Deficiency
- Deficiency Disease, Aspartoacylase
- Aspartoacylase Deficiency
- ACY2 Deficiency
- ASP Deficiency
- ASPA Deficiency
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