Hereditary neuropathies: An update
Hereditary neuropathies: An update
复制标题
DOI：
10.1016/j.neurol.2016.06.007
复制
发表时间：
2016-12-01
影响因子：
3
通讯作者：
Stojkovic, T.
中科院分区：
文献类型：
--
作者：
Stojkovic, T.
遗传性神经病变是最常见的遗传性神经肌肉疾病。Charcot-Marie-Tooth(CMT)病是最常见的疾病，根据研究的不同，平均患病率从1/2500到1/1200不等。到目前为止，随着最新一代测序的进展，已经识别了80多个基因。虽然常见的临床表型包括进行性远端肌肉无力和感觉丧失，足部畸形和肌腱反射减少或缺失，但临床和电生理表型表现出很大的变异性。此外，出现不典型的表型，与痉挛性截瘫、遗传性感觉神经病或肌萎缩侧索硬化症重叠。这些致病基因参与了髓鞘的发育和维持、蛋白质的生物合成和降解、神经元结构的维持、轴突运输、内吞作用、膜动力学、离子通道功能和线粒体网络等多种生物学过程。准确的遗传诊断对于适当的遗传咨询和治疗选择是重要的。治疗的进展，特别是小干扰RNA治疗，对遗传性甲状腺激素淀粉样神经病是令人鼓舞的。(C)2016年爱思唯尔·马森SAS。版权所有。
Hereditary neuropathies are the most common inherited neuromuscular diseases. Charcot-Marie-Tooth (CMT) disease represents the most common form with an average prevalence ranging from 1/2500 to 1/1200, depending on the studies. To date and with the advances of the latest generation sequencing, more than 80 genes have been identified. Although the common clinical phenotype comprises a progressive distal muscle weakness and sensory loss, foot deformities and decreased or absent tendon reflexes, clinical and electrophysiological phenotypes exhibit great variability. Moreover, atypical phenotypes are arising, overlapping with spastic paraplegia, hereditary sensory neuropathies or amyotrophic lateral sclerosis. The causative genes are involved in various biological processes such as myelin development and maintenance, biosynthesis and degradation of proteins, neuronal structural maintenance, axonal transport, endocytosis, membrane dynamics, ion-channel function and the mitochondrial network. An accurate genetic diagnosis is important for appropriate genetic counselling and treatment options. Therapeutic advances, particularly small interfering RNA therapy, are encouraging in hereditary transthyretin amyloid neuropathy. (C) 2016 Elsevier Masson SAS. All rights reserved.