Canavan's spongiform leukodystrophy -: A clinical anatomy of a genetic metabolic CNS disease
Canavan's spongiform leukodystrophy -: A clinical anatomy of a genetic metabolic CNS disease
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DOI：
10.1385/jmn:15:2:61
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发表时间：
2000-10-01
影响因子：
3.1
通讯作者：
Baslow, MH
中科院分区：
文献类型：
--
作者：
Baslow, MH
Canavan病（CD）是一种全球性分布的早发性脑白质营养不良。它本质上是遗传性的，并且是由常染色体遗传的隐性性状引起的，其特征在于轴突的髓鞘损失，而留下轴突完整，以及海绵状变性，特别是在白色物质中。脑内也有N-乙酰-L-天冬氨酸（NAA）的积累，以及NAA酸血症和NAA酸尿症。NAA代谢改变的原因可以追溯到位于17号染色体上的β-乙酰化酶基因的几个突变，β-乙酰化酶是参与NAA分解代谢的主要酶。在这篇综述中，试图将CD中遗传缺陷导致的NAA代谢变化与CD综合征的发展过程相关。此外，目前的努力，以对付这种疾病的遗传缺陷的结果也被认为是。
Canavan disease (CD) is a globally distributed early-onset leukodystrophy. It is genetic in nature, and results from an autosomally inherited recessive trait that is characterized by loss of the axon's myelin sheath while leaving the axons intact, and spongiform degeneration especially in white matter. There is also a buildup of N-acetyl-L-aspartate (NAA) in brain, as well as NAA acidemia and NAA aciduria. The cause of the altered NAA metabolism has been traced to several mutations in the gene for the production of aspartoacylase, located on chromosome 17, which is the primary enzyme involved in the catabolic metabolism of NAA. In this review, an attempt is made to correlate the change in NAA metabolism that results from the genetic defects in CD with the processes involved in the development of the CD syndrome. In addition, present efforts to counter the results of the genetic defects in this disease are also considered.