Canavan’s disease

Other leukodystrophies are associated with the lysosomal and peroxisomal disorders in which specific lipids or other substances accumulate due to a deficiency in a catabolic enzyme - for example Krabbe s disease, meta-chromatic leukodystrophy (MLD) and adrenoleuko-dystrophy (ALD) [1,2]. (These are discussed in detail in Ch. 40.) Similarly, disorders of amino acid metabolism can lead to hypomyelination - for example phenylketonuria and Canavan s disease (spongy degeneration) [1, 2, 25] (Ch. 40). The composition of myelin in the genetically... 

Canavan s disease (spongy degeneration) AR Aspartoacylase Widespread white matter edema with diminished myelin AT-acetylaspartic aciduria see text 1,25, Ch. 40... 

Surendran, S., Matalon, K. M., Tyring, S. K. etal. Molecular basis of Canavan s disease from human to mouse. /. Child Neurol. 18 604-610,2003. 

Canavan s disease is the result of a deficiency of the enzyme that breaks down N-acetylaspartate, an important donor of acetyl groups for brain myelin synthesis 682... 

Canavan s disease Absence of N-acetylaspartate acylase Rapidly progressive demyelinating disease of infancy Gene therapy (experimental)... 

Adachi, M., L. Schneck, J. Cara, and B. W. Volk. 1973. Spongy degeneration of the central nervous system (van Bogaert and Bertrand type Canavan s disease). A review. Hum Pathol 4 331-347. 

Pearce, J. M. 2004. Canavan s disease. J Neurol Neurosurg Psychiatry 75 1410. 

Several other trials are in progress and await completion and reporting of the data. Diseasesunder study include alphaj-antitrypsin deficiency, Fanconi s anemia, Gaucher s disease. Hunter s syndrome, Canavan s disease, limb girdle muscular dystrophy, amyotrophic lateral sclerosis, ornithine transcarbamylase deficiency, and junctional epidermolysis bullosa. 

Baslow, M. 2000. Canavan s spongiform leukodystrophy A clinical anatomy of a genetic metabolic CNS disease — An analytical review. J. Mol. Neurosci 15 61-69. 

Baslow M. H. (1999). Molecular water pumps and the aetiology of Canavan disease a case ofthe sorcerer s apprentice. J. Inherit. Metab Dis. 22 99-101. 

Feigenbaum A, Moore R, Clarke J, Hewson S, Chitayat D, Ray PN, Stockley TL. Canavan disease carrier frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay. Am J Med Genet 2004 124A 142-147. 

Matalon R, Surendran S, Rady PL, Quasi MJ, Campbell GA, Matalon KM, Tyring SK, Wei J, Peden CS, Ezell EL, Muzyczka N, Mandel RJ. Adeno-associated virus-mediated aspartoa-cylase gene transfer to the brain of knockout mouse for Canavan disease. Mol Ther... 

Kumar, S., N. S. Mattan, and J. de VeUis. 2006. Canavan disease A white matter disorder. Ment Retard Dev Disabil Res Rev 12 157-165. 

A. Ereese, S. W. McPhee, E. Mee, and M. J. During. 2000. Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan disease. Ann Neurol 48 27-38. 

No loading tests are available for Canavan disease. 8.S Specimen Collection... 

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