Canavan disease: from spongy degeneration to molecular analysis

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

Biochemistry and molecular biology of Canavan disease.

Canavan disease is a severe progressive leukodystrophy characterized by swelling and spongy degeneration of the white matter of the brain. It is an autosomal recessive disease found more frequently among Ashkenazi Jews. The clinical features are those of severe mental retardation with inability to gain developmental milestones. Hypotonia, head lag and macrocephaly are characteristic of Canavan disease and become apparent after 5-6 months of age. Massive excretion in the urine of N-acetylaspartic acid is the biochemical marker for Canavan disease, which is caused by deficiency of the enzyme aspartoacylase. This discovery allowed for accurate diagnosis of Canavan disease, while prior to that, a brain biopsy was needed. The gene for aspartoacylase has been cloned and two mutations predominate among Ashkenazi Jewish individuals with Canavan disease and account for more than 98% of the Ashkenazi Jewish patients. The mutations among other ethnic groups are more diverse. The carrier frequency for the two common mutations among Ashkenazi Jews was found to be surprisingly high, 1:37. Screening for carriers is now common practice for this population. A knock-out mouse for Canavan disease is being genetically engineered in our laboratory. The mouse model will allow for development of strategies for gene therapy.

Spongy degeneration of the brain, Canavan disease: biochemical and molecular findings.

Canavan disease: a monogenic trait with complex genomic interaction.

Molecular basis of Canavan disease.

R. MATALON l*, R. KAUL 1, G. E GAO l, K. MICHALS l, R. G. F. Gga'c 2, S. BENNETT-BRITON 3, A. NORMAN 4, M. SMITH 5 and C. JAKOBS 6 1Research Institute, Miami Children's Hospital, USA; 2Children's Hospital, Birmingham, UK; 3Good Hope Hospital, West Midlands, UK; 4Birmingham Maternity Hospital, Birmingham, UK; 5Burton District General Hospital, Birmingham, UK; 6Department of Pediatrics, Free University of Amsterdam, The Netherlands

Prenatal diagnosis for Canavan disease: the use of DNA markers.

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Prenatal diagnosis for Canavan disease: the use of DNA markers.