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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. (From Adams et al., Principles of Neurology, 6th ed, p944; Am j med Genet 1988 Feb;29(2):463-71) |
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Synonyms: - Aspartoacylase Deficiency Disease
- Aspartoacylase Deficiency Diseases
- Bogaert-Bertrand Disease, Canavan-van
- Canavan Disease, Familial Form
- Canavan Disease, Infantile
- Canavan Disease, Juvenile
- Canavan Disease, Neonatal
- Canavan Disease, Sporadic Form
- Canavan Disease, Type I
- Canavan Disease, Type II
- Canavan Disease, Type III
- Canavan van Bogaert Bertrand Disease
- Canavan-van Bogaert-Bertrand Disease
- Deficiency Disease, Aspartoacylase
- Deficiency Diseases, Aspartoacylase
- Disease, Aspartoacylase Deficiency
- Diseases, Aspartoacylase Deficiency
- Familial Form of Canavan Disease
- Infantile Canavan Disease
- Juvenile Canavan Disease
- Leukodystrophies, Spongiform
- Leukodystrophy, Spongiform
- Neonatal Canavan Disease
- Spongiform Leukodystrophies
- Spongiform Leukodystrophy
- Spongy Degeneration of Infancy
- Spongy Disease of Central Nervous System
- Spongy Disease of White Matter
- Sporadic Form of Canavan Disease
- Type I Canavan Disease
- Type II Canavan Disease
- Type III Canavan Disease
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