Charcot-Marie-Tooth 病的最新进展。
Update on Charcot-Marie-Tooth disease.
机构信息
Wayne State University, 421 East Canfield, Elliman Building 3209, Detroit, MI 48201, USA.
出版信息
Curr Neurol Neurosci Rep. 2011 Feb;11(1):78-88. doi: 10.1007/s11910-010-0158-7.
Abstract
Charcot-Marie-Tooth disease (CMT) disease encompasses a genetically heterogeneous group of inherited neuropathies, also known as hereditary motor and sensory neuropathies. CMT results from mutations in more than 40 genes expressed in Schwann cells and neurons causing overlapping phenotypes. The classic CMT phenotype reflects length-dependent axonal degeneration characterized by distal sensory loss and weakness, deep tendon reflex abnormalities, and skeletal deformities. Recent articles have provided insight into the molecular pathogenesis of CMT, which, for the first time, suggest potential therapeutic targets. Although there are currently no effective medications for CMT, multiple clinical trials are ongoing or being planned. This review will focus on the underlying pathomechanisms and diagnostic approaches of CMT and discuss the emerging therapeutic strategies.
摘要
Charcot-Marie-Tooth 病（CMT）是一组遗传性周围神经病，又称遗传性运动感觉神经病，其具有遗传异质性。CMT 由施万细胞和神经元中表达的 40 多种基因突变引起，导致重叠表型。经典的 CMT 表型反映了轴突退行性变的长度依赖性，其特征是远端感觉丧失和无力、深腱反射异常和骨骼畸形。最近的文章提供了对 CMT 分子发病机制的深入了解，这首次提示了潜在的治疗靶点。虽然目前尚无有效的 CMT 药物，但仍有多项临床试验正在进行或计划中。本综述将重点讨论 CMT 的潜在病理机制和诊断方法，并讨论新兴的治疗策略。
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