Reilly M M
National Hospital for Neurology and Neurosurgery, London, UK.
J Neurol. 1998 Jan;245(1):6-13. doi: 10.1007/s004150050167.
There have been major advances in the understanding of the genetically determined neuropathies in recent years. The underlying genetic defects are now known for many of the demyelinating hereditary motor and sensory neuropathies, and linkage data are available for some of the axonal hereditary motor and sensory neuropathies. This has important implications for both diagnosis and genetic counselling in this group of conditions. The genetic defect in most cases of familial amyloid polyneuropathy is also now known. In the most common form of familial amyloid polyneuropathy (FAP), transthyretin-related FAP, liver transplantation has been established as the first definitive treatment for a hereditary neuropathy and should be considered especially in young adult patients. This review will concentrate on the advances in the molecular genetics of the hereditary motor and sensory neuropathies, the hereditary sensory and autonomic neuropathies and the familial amyloid polyneuropathies with particular emphasis on the difficulties in classifying the first group.
近年来，在对基因决定的神经病变的认识方面取得了重大进展。现在已经知道许多脱髓鞘性遗传性运动和感觉神经病变的潜在基因缺陷，并且对于一些轴索性遗传性运动和感觉神经病变也有了连锁数据。这对于这组病症的诊断和遗传咨询都具有重要意义。现在也已经知道大多数家族性淀粉样多神经病病例中的基因缺陷。在家族性淀粉样多神经病（FAP）最常见的形式，即转甲状腺素蛋白相关FAP中，肝移植已被确立为一种遗传性神经病变的首个确定性治疗方法，尤其应考虑用于年轻成年患者。本综述将集中于遗传性运动和感觉神经病变、遗传性感觉和自主神经病变以及家族性淀粉样多神经病的分子遗传学进展，特别强调在对第一组疾病进行分类时所遇到的困难。
