Wayne State University School of Medicine, Detroit, Michigan, USA.
Curr Opin Neurol. 2011 Oct;24(5):475-83. doi: 10.1097/WCO.0b013e32834aa331.
The aim is to specify the genetic causes of dominantly and recessively inherited axonal forms of Charcot-Marie-Tooth disease (CMT) and review the biological basis for these disorders.
More than 10 genes that cause axonal CMT have been identified over the past decade. Many of these genes express proteins that are ubiquitously expressed. Clinical phenotypes of many of these disorders are being studied and animal and cellular models of these neuropathies have been created.
Identification of these new genetic causes of axonal neuropathy has not only been important for patients and their families but it has also provided exciting new information about disease mechanisms involved in neuronal degeneration. These mechanisms extend beyond the field of axonal CMT and have relevance to sensory neuropathies and motor neuron disorders. Therapeutic strategies for some of these are also provided. We hope that this review will be of interest to clinicians and scientists interested in axonal forms of CMT.
旨在明确常染色体显性遗传和常染色体隐性遗传轴索型腓骨肌萎缩症（CMT）的遗传病因，并综述这些疾病的生物学基础。
在过去十年中，已经发现了 10 多个导致轴索 CMT 的基因。这些基因中的许多表达广泛表达的蛋白质。许多这些疾病的临床表型正在研究中，并且已经创建了这些神经病变的动物和细胞模型。
鉴定这些新的轴索性神经病的遗传病因不仅对患者及其家属很重要，而且还提供了有关神经元变性所涉及的疾病机制的令人兴奋的新信息。这些机制不仅限于轴索 CMT 领域，与感觉神经病变和运动神经元疾病有关。其中一些疾病的治疗策略也已提供。我们希望本综述能引起对 CMT 的轴索形式感兴趣的临床医生和科学家的兴趣。
