摘要
进行性腓骨肌萎缩症(CMT)和相关的神经病变是一种高度的遗传异质性神经病变性疾病。CMT同时影响感觉神经和运动神经,远端型遗传性运动神经病(dHMN)是只涉及到运动神经表型相似的疾病,而遗传性感觉和自主神经病变(HSAN)是非常不同的疾病,其影响感官神经,有时影响自主神经。已经鉴定出约有70个基因与这些疾病相关。令人惊奇的发现细胞亚定位和CMT相关基因所编码的蛋白质的功能作用的多样性都将导致外周神经系统类似病症髓鞘的形成和维持,线粒体动力学,细胞骨架组织,轴突运输,和囊泡运输是最经常涉及的通路。然而,从细胞核转移到神经肌肉接点的一些活性混乱,形成了这些遗传性神经病发生的基础,使得预测新鉴定的突变基因的功能变得很有挑战性。在这篇综述中,我们将讨论所有与CMT, dHMN 和 HSAN相关的功能和表型。
关键词: 进行性神经性腓骨肌萎缩症(CMT),进行性神经性腓骨肌萎缩症(CMT),遗传性感觉和自主神经病变(HSAN),遗传性感觉运动神经病(HSMN)
Current Molecular Medicine
Title:Charcot-Marie-Tooth Disease and Related Hereditary Neuropathies: From Gene Function to Associated Phenotypes
Volume: 14 Issue: 8
Author(s): D. Pareyson, P. Saveri and G. Piscosquito
Affiliation:
关键词: 进行性神经性腓骨肌萎缩症(CMT),进行性神经性腓骨肌萎缩症(CMT),遗传性感觉和自主神经病变(HSAN),遗传性感觉运动神经病(HSMN)
摘要: Charcot-Marie-Tooth disease (CMT) and related neuropathies are a genetically highly heterogeneous group of neurodegenerative disorders. CMT affects both the sensory and motor nerves, distal Hereditary Motor Neuropathies (dHMN) are phenotypically similar disorders involving only motor nerves, while Hereditary Sensory and Autonomic Neuropathies (HSAN) are rare distinct disorders affecting sensory and sometimes autonomic nerves. Almost 70 genes have been identified as responsible for these disorders. It is astonishing to learn how diverse are the cellular sublocalisation and the functional roles of the encoded proteins of CMT-associated genes which all lead to similar disorders of the peripheral nervous system. Myelin formation and maintenance, mitochondrial dynamics, cytoskeleton organization, axonal transport, and vesicular trafficking are the most frequently involved pathways. However, dysfunction of several activities from the nucleus to the neuromuscular junction forms the basis for these hereditary neuropathies, making it challenging predicting the functions of newly identified mutated genes. In this review we will discuss the function and related phenotypes of all the genes thus far associated with CMT, dHMN, and HSAN.
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Cite this article as:
Pareyson D., Saveri P. and Piscosquito G., Charcot-Marie-Tooth Disease and Related Hereditary Neuropathies: From Gene Function to Associated Phenotypes, Current Molecular Medicine 2014; 14 (8) . https://dx.doi.org/10.2174/1566524014666141010154205
DOI https://dx.doi.org/10.2174/1566524014666141010154205 |
Print ISSN 1566-5240 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5666 |

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