Update on Charcot-Marie-Tooth Disease

被引：112

作者：

Patzko, Agnes ^{[1
]}

Shy, Michael E. ^{[1
]}

机构：

[1] Wayne State Univ, Detroit, MI 48201 USA

来源：

CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS | 2011年 / 11卷 / 01期

基金：

美国国家卫生研究院;

关键词：

Charcot-Marie-Tooth; Hereditary; Neuropathy; Genetics; Therapy; Disease pathomechanism; TREMBLER-J MOUSE; TRANSFER-RNA SYNTHETASE; TRANSGENIC RAT MODEL; TRANSMEMBRANE DOMAIN; MOLECULAR-GENETICS; NERVOUS-SYSTEM; POINT MUTATION; SCHWANN-CELLS; NEUROPATHY; MYELIN;

D O I：

10.1007/s11910-010-0158-7

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Charcot-Marie-Tooth disease (CMT) disease encompasses a genetically heterogeneous group of inherited neuropathies, also known as hereditary motor and sensory neuropathies. CMT results from mutations in more than 40 genes expressed in Schwann cells and neurons causing overlapping phenotypes. The classic CMT phenotype reflects length-dependent axonal degeneration characterized by distal sensory loss and weakness, deep tendon reflex abnormalities, and skeletal deformities. Recent articles have provided insight into the molecular pathogenesis of CMT, which, for the first time, suggest potential therapeutic targets. Although there are currently no effective medications for CMT, multiple clinical trials are ongoing or being planned. This review will focus on the underlying pathomechanisms and diagnostic approaches of CMT and discuss the emerging therapeutic strategies.

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页码：78 / 88

页数：11

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