AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH NEUROPATHY
AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH NEUROPATHY
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DOI：
10.1007/978-1-4614-0653-2_5
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发表时间：
2012-01-01
影响因子：
3
通讯作者：
Lupo, Vincenzo
中科院分区：
文献类型：
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作者：
Espinos, Carmen;Calpena, Eduardo;Lupo, Vincenzo
腓骨肌萎缩症（Charcot-Marie-Tooth disease，CMT）是一种遗传性运动和感觉神经病，包括50多种疾病，是最常见的遗传性神经病。CMT一般分为脱髓鞘型、轴突型和中间型。CMT还具有广泛的遗传异质性，涉及29个基因和30多个位点。最常见的遗传模式是常染色体显性（AD），尽管常染色体隐性（AR）形式在地中海国家更常见。在本章中，我们给出了相关的基因，机制和流行病学的AR-CMT形式及其相关的表型的概述。
Charcot-Marie-Tooth (CMT) disease, a hereditary motor and sensory neuropathy that comprises a complex goup of more than 50 diseases, is the most common inherited neuropathy. CMT is generally divided into demyelinating forms, axonal forms and intermediate forms. CMT is also characterized by a wide genetic heterogeneity with 29 genes and more than 30 loci involved. The most common pattern of inheritance is autosomal dominant (AD), although autosomal recessive (AR) forms are more frequent in Mediterranean countries. In this chapter we give an overview of the associated genes, mechanisms and epidemiology of AR-CMT forms and their associated phenotypes.