Biochemistry and molecular biology of Canavan disease

Reuben Matalon, Kimberlee Michals-Matalon

Research output: Contribution to journalArticle

47 Scopus citations

Abstract

Canavan in 1931 described spongy degeneration of the brain in a child who was thought to have had Schilder's disease. Since that classic histological description, Canavan disease has become a distinct clinical entity, with the recognition by Van Bogaert and Bertrand that this is an autosomal recessive disease prevalant among children of Jewish extraction. Recent advances in the understanding of the biochemical defect led to an increase in awareness and ease in diagnosis, and indeed the disease is not as rare as initially thought. Exploring the molecular aspects of Canavan disease has led to exciting new developments in carrier detection and prevention of Canavan disease. Work is underway in our laboratory to develop a knock-out mouse for Canavan disease for understanding of the pathophysiology of this disease and formulating gene therapy.

Original languageEnglish (US)
Pages (from-to)507-513
Number of pages7
JournalNeurochemical Research
Volume24
Issue number4
StatePublished - 1999
Externally publishedYes

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Keywords

  • Aspartoacylase
  • Canavan disease
  • N-acetylaspartic acid
  • Spongy degeneration of the brain

ASJC Scopus subject areas

  • Neuroscience(all)
  • Biochemistry

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