Canavan Disease and Recent Advances
Cyprus Journal of Medical Sciences(2021)
Abstract
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-i-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 hove been identified. Among these diagnostic approaches, the NAA peak delecled wilh the use of MRS is highly characteristic of CD and is the cornerstone in early diagnosis.
MoreTranslated text
Key words
Canavan disease, diagnosis, neuroimaging, genetic, treatment
AI Read Science
Must-Reading Tree
Example
![](https://originalfileserver.aminer.cn/sys/aminer/pubs/mrt_preview.jpeg)
Generate MRT to find the research sequence of this paper
Chat Paper
Summary is being generated by the instructions you defined