Biochemistry and molecular biology of Canavan disease

• Published in: Neurochemical research Vol. 24; no. 4; pp. 507 - 513
• Main Authors: MATALON, R, MICHALS-MATALON, K
• Format: Journal Article
• Language: English
• Published: New York, NY Springer 01.04.1999; Springer Nature B.V
• Subjects: Amidohydrolases - deficiency; Amidohydrolases - genetics; Animals; Biochemistry; Biological and medical sciences; Canavan Disease - diagnosis; Canavan Disease - genetics; Canavan Disease - metabolism; Canavan Disease - physiopathology; Canavan Disease - therapy; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Diagnosis, Differential; Disease Models, Animal; Humans; Medical sciences; Neurology; Phenotype; Prevalence; Animal model; Nervous system diseases; Pathophysiology; Enzyme; Metabolic diseases; Lipids; Sphingolipidosis; Enzymopathy; Cerebral disorder; Canavan disease; Central nervous system disease; Hydrolases; Aspartoacylase; Degenerative disease; Lipoidosis
• ISSN: 0364-3190; 1573-6903
• DOI: 10.1023/A:1022531829100

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.