The causes of Charcot-Marie-Tooth disease

被引：35

作者：

Young, P

Suter, U ^{[1
]}

机构：

[1] ETH Honggerberg, Swiss Fed Inst Technol, Dept Biol, Inst Cell Biol, CH-8093 Zurich, Switzerland

[2] Univ Munster, Dept Neurol, D-4400 Munster, Germany

来源：

CELLULAR AND MOLECULAR LIFE SCIENCES | 2003年 / 60卷 / 12期

关键词：

myelin; peripheral nervous system; Schwann cell; neurodegeneration; Charcot-Marie-Tooth disease; hereditary neuropathy; axon degeneration;

D O I：

10.1007/s00018-003-3133-5

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Charcot-Marie-Tooth (CMT) disease serves as the summary term for the most frequent forms of inherited peripheral neuropathies that affect motor and sensory nerves. In the last 12 years, 14 genes have been identified that cause different CMT subforms. The genes found initially are predominantly responsible for demyelinating and dysmyelinating neuropathies. Genes affected in axonal and rare forms of CMT have only recently been identified. In this review, we will focus on the currently known genes that are associated with CMT syndromes with regards to their genetics and function.

引用

页码：2547 / 2560

页数：14

共 222 条

[1] Studies in transgenic mice indicate a loss of connexin32 function in X-linked Charcot-Marie-tooth disease [J].