Canavan's spongiform leukodystrophy: a clinical anatomy of a genetic metabolic CNS disease

J Mol Neurosci. 2000 Oct;15(2):61-9. doi: 10.1385/JMN:15:2:61.

Abstract

Canavan disease (CD) is a globally distributed early-onset leukodystrophy. It is genetic in nature, and results from an autosomally inherited recessive trait that is characterized by loss of the axon's myelin sheath while leaving the axons intact, and spongiform degeneration especially in white matter. There is also a buildup of N-acetyl-L-aspartate (NAA) in brain, as well as NAA acidemia and NAA aciduria. The cause of the altered NAA metabolism has been traced to several mutations in the gene for the production of aspartoacylase, located on chromosome 17, which is the primary enzyme involved in the catabolic metabolism of NAA. In this review, an attempt is made to correlate the change in NAA metabolism that results from the genetic defects in CD with the processes involved in the development of the CD syndrome. In addition, present efforts to counter the results of the genetic defects in this disease are also considered.

Publication types

  • Review

MeSH terms

  • Aspartic Acid / analogs & derivatives*
  • Aspartic Acid / metabolism
  • Astrocytes / metabolism
  • Axons / metabolism
  • Brain / metabolism*
  • Canavan Disease / diagnosis
  • Canavan Disease / genetics*
  • Canavan Disease / metabolism*
  • Canavan Disease / pathology
  • Humans

Substances

  • Aspartic Acid
  • N-acetylaspartate