Bertorini Tulio, Narayanaswami Pushpa, Rashed Hani
Department of Neurology, College of Medicine, University of Tennessee, Wesley Neurology Clinic, 1211 Union Avenue #400, Memphis, TN 38104, USA.
Neurologist. 2004 Nov;10(6):327-37. doi: 10.1097/01.nrl.0000145596.38640.27.
Since the description of Charcot-Marie-Tooth disease over a century ago. it has now been recognized that these conditions are not caused by generalized metabolic defects but rather have various discrete genetic origins. These disorders can also have variable phenotypes due to dysfunction of peripheral nerve axons or their myelin due to the genetic defects that affect the formation of specific nerve proteins.
This article summarizes the clinical presentation of various phenotypes of the hereditary motor sensory neuropathies and the hereditary sensory and autonomic neuropathies, genetic mutations, and their relevant protein products. Proper identification of the genetic defects provides the opportunity for better genetic counseling and hopefully therapies in the future.
自一个多世纪前首次描述夏科-马里-图思病以来，现在已经认识到这些病症并非由全身性代谢缺陷引起，而是具有多种不同的遗传起源。由于影响特定神经蛋白形成的遗传缺陷，导致周围神经轴突或其髓鞘功能障碍，这些疾病也可能具有可变的表型。
本文总结了遗传性运动感觉神经病和遗传性感觉自主神经病的各种表型的临床表现、基因突变及其相关蛋白产物。正确识别遗传缺陷为未来更好的遗传咨询和有望的治疗提供了机会。
