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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) [ Articles | Books | Images | Discussion groups ]
Additional comments : (Canavan-van Bogaert-Bertrand Disease, Spongiform Leukodystrophy, Aspartoacylase Deficiency Disease) Free Full Text References Canavan's disease. (Free Full Text) Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease. (Free Full Text) Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease. (Free Full Text) A partial deletion of the aspartoacylase gene is the cause of Canavan disease in a family from Mexico. (Free Full Text) Diffusion-weighted MR imaging in the brain in children: findings in the normal brain and in the brain with white matter diseases. (Free Full Text) C - 1 2 3 4 5 6

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