Non-genetic therapeutic approaches to Canavan disease
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- 作者：Rebecca B. Roscoea ; Christina Elliotta ; b ; Apostolos Zarrosa ; c ; azarros@outlook.com" class="auth_mail" title="E-mail the corresponding author ; George S. Bailliea
- 刊名：Journal of the Neurological Sciences
- 出版年：2016
- 出版时间：15 July 2016
- 年：2016
- 卷：366
- 期：Complete
- 页码：116-124
- 全文大小：648 K
文摘
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Canavan disease (CD) is a rare leukodystrophy primarily affecting infants.
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The molecular cause of CD is mutations of the gene encoding aspartoacylase (ASPA).
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Functional deficiency of ASPA causes brain N-acetyl-L-aspartic acid accumulation.
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The aetiopathogenesis and treatment of CD are reviewed.
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Potential and limitations of non-genetic approaches to the treatment of CD are discussed.