Cyprus Journal of Medical Sciences
Review

Canavan Disease and Recent Advances

1.

Department of Radiology, Dr. Suat Gu¨nsel University Faculty of Medicine, Kyrenia, North Cyprus

2.

Division of Pediatric Neurology, Department of Pediatrics, Near East University Faculty of Medicine, Nicosia, North Cyprus

Cyprus J Med Sci 2021; 6: 273-278
DOI: 10.5152/cjms.2021.953
Read: 128 Downloads: 66 Published: 18 October 2021

Canavan disease (CD) is a rare autosomal recessively inherited leukodystrophy. The genetic defect related to the aspartoacylase gene. The clinical characteristics of CD include hypotonia, macrocephaly, developmental delay, and visual impairment within the first year of life. There is currently no cure for CD, however, new therapeutic modalities and gene therapy options are under investigation. Possible mechanisms in the pathogenesis include astrocytic edema caused by N-acetyl-L-aspartic acid (NAA) serving as a water pump and diminished acetate that is required for myelin synthesis. The current diagnostic approach to identify CD cases includes the demonstration of increased urinary NAA level, diminished or absence of enzyme activity in cultured skin fibroblasts, the loss of white matter including U-fibers in magnetic resonance (MR) imaging, NAA peak in MR spectroscopy (MRS), and genetic testing, in which more than 70 mutations have been identified. Among these diagnostic approaches, the NAA peak detected with the use of MRS is highly characteristic of CD and is the cornerstone in early diagnosis.

Cite this article as: DirikMA, Sanlidag B, Dirik E, Bulakbası N. Canavan Disease and Recent Advances.Cyprus JMed Sci. 2021; 6(3): 273-278.

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ISSN 2149-7893 EISSN 2536-507X