进行性腓骨肌萎缩症和相关遗传性神经病变：从基因功能到相关表型

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.

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