Related MeSH Hierarchy (8)
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Hereditary Central Nervous System Demyelinating Diseases » Canavan Disease
Diseases [C] » Nervous System Diseases [C10] » Central Nervous System Diseases » Brain Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » Hereditary Central Nervous System Demyelinating Diseases » Canavan Disease
Diseases [C] » Nervous System Diseases [C10] » Central Nervous System Diseases » Brain Diseases » Leukoencephalopathies » Hereditary Central Nervous System Demyelinating Diseases » Canavan Disease
Diseases [C] » Nervous System Diseases [C10] » Demyelinating Diseases » Hereditary Central Nervous System Demyelinating Diseases » Canavan Disease
Diseases [C] » Nervous System Diseases [C10] » Neurodegenerative Diseases » Heredodegenerative Disorders, Nervous System » Canavan Disease
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Heredodegenerative Disorders, Nervous System » Canavan Disease
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Hereditary Central Nervous System Demyelinating Diseases » Canavan Disease
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » Hereditary Central Nervous System Demyelinating Diseases » Canavan Disease
Description
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) MeSH
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Organization Involved with Other Experimental Indications (1)
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