Metachromatic Leukodystrophy (MLD): VIII. MLD in Adults; Diagnosis and Pathogenesis
Metachromatic Leukodystrophy (MLD): VIII. MLD in Adults; Diagnosis and Pathogenesis
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异染性脑白质营养不良（MLD）：VIII。
DOI：
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发表时间：
1968
期刊：
影响因子：
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通讯作者：
O. Briner
中科院分区：
文献类型：
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作者：
James H. Austin;Donald Armstrong;Sally Fouch;Curtin Mitchell;David A. Stumpf;Leslie Shearer;O. Briner
成人和儿童都可发生异染性脑白质营养不良（MLD）。患有MLD的成年人也有硫酸酯酶A缺乏症吗？如果是这样，这种酶缺乏真的能解释他的病吗？例如，如果假定酶缺陷是先天性的，为什么他的症状不是在他还是个孩子的时候开始的？与影响幼儿的MLD相比，成人MLD的延迟脱髓鞘是否涉及不同的机制？1-3对MLD模型中提出的问题的回答可能有助于解释为什么其他神经系统疾病，尽管是“天生的”，但在临床上只出现在以后的生活中。本报告的目的有三个：（1）注意一个62岁的MLD患者的硫酸酯酶研究和其他实验室数据;（2）回顾相关文献，并对成人MLD的一些特殊临床特征和致病机制进行评论;（3）从这些信息中综合一个有效的
ADULTS, as well as children, develop metachromatic leukodystrophy (MLD). Does the adult with MLD also have a sulfatase A deficiency? If he does, can this enzyme deficiency really explain his illness? For example, if one presumes that the enzymic defect is inborn, why did his symptoms not begin when he was a child? Are different mechanisms involved in the delayed demyelination of adult MLD than in the form of MLD which affects young children?1-3Answers to questions posed in the MLD model may help explain why other neurological disorders, though "inborn," appear clinically only later in life. The purpose of the present report is threefold: (1) to note sulfatase studies and other laboratory data in a 62-year-old adult with MLD; (2) to review the pertinent literature and to comment on some special clinical features and pathogenic mechanisms of adult MLD; (3) to synthesize from this information a working