Canavan Disease: A Case Report

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 accumulation of NAA, the absence of NAA-derived acetate, or the absence of any unknown roles of the ASPA enzyme. In this Review, we present an important and timely update on the current and emerging aspects of this neurological disease. Following a brief overview of canavan disease, we discuss current knowledge of neurological findings, pathophysiology, diagnostic approaches, current canavan disease treatment, and gene therapy’s future prospects.