Translational Neuroscience Facility, University of New South Wales, Randwick, Sydney, NSW, Australia.
Prog Neurobiol. 2009 Nov;89(3):288-313. doi: 10.1016/j.pneurobio.2009.08.002. Epub 2009 Aug 21.
Over recent decades, the development of specialised techniques such as patch clamping and site-directed mutagenesis have established the contribution of neuronal ion channel dysfunction to the pathophysiology of common neurological conditions including epilepsy, multiple sclerosis, spinal cord injury, peripheral neuropathy, episodic ataxia, amyotrophic lateral sclerosis and neuropathic pain. Recently, these insights from in vitro studies have been translated into the clinical realm. In keeping with this progress, novel clinical axonal excitability techniques have been developed to provide information related to the activity of a variety of ion channels, energy-dependent pumps and ion exchange processes activated during impulse conduction in peripheral axons. These non-invasive techniques have been extensively applied to the study of the biophysical properties of human peripheral nerves in vivo and have provided important insights into axonal ion channel function in health and disease. This review will provide a translational perspective, focusing on an overview of the investigational method, the clinical utility in assessing the biophysical basis of ectopic symptom generation in peripheral nerve disease and a review of the major findings of excitability studies in acquired and inherited neurological disease states.
近几十年来， patched clamping 和 site-directed mutagenesis 等专业技术的发展，确立了神经元离子通道功能障碍对常见神经疾病（包括癫痫、多发性硬化、脊髓损伤、周围神经病、发作性共济失调、肌萎缩侧索硬化和神经性疼痛）病理生理学的贡献。最近，这些来自体外研究的见解已经转化为临床领域。为了顺应这一进展，开发了新型临床轴突兴奋性技术，以提供与各种离子通道、能量依赖性泵和离子交换过程在周围轴突冲动传导过程中激活相关的活性信息。这些非侵入性技术已广泛应用于对人体周围神经生物物理特性的研究，并为了解健康和疾病状态下轴突离子通道功能提供了重要见解。本综述将提供一个转化视角，重点介绍研究方法概述、评估周围神经疾病中异位症状产生的生物物理基础的临床实用性，以及对获得性和遗传性神经疾病状态下兴奋性研究的主要发现的回顾。
