Abstract:Canavan disease is an autosomal recessive leukodystrophy associated with hypotonia, megalencephaly, mental retardation, blindness and spasticity. The biochemical deficiency of aspartoacylase (ASPA) causes CD. Deficiency in ASPA, which hydrolyzes N-acetylaspartate, results in NAA building up to high millimolar amounts in the brain. The hallmarks of the disease are loss of oligodendrocytes and spongy myelin degradation in the CNS. However, it is unclear whether the disease’s pathophysiology is caused by the accu… Show more
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