Clinical and genetic aspects of Charcot-Marie-Tooth disease subtypes

被引：16

作者：

Nam, Soo Hyun ^{[1
]}

Choi, Byung-Ok ^{[1
]}

机构：

[1] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Neurol, 81 Irwon Ro, Seoul 06351, South Korea

来源：

PRECISION AND FUTURE MEDICINE | 2019年 / 3卷 / 02期

关键词：

Charcot-Marie-Tooth disease; Classification; Diagnosis; Genes; Mutation; TRANSFER-RNA SYNTHETASE; DIFFERENTIATION-ASSOCIATED PROTEIN-1; DOMINANT HEREDITARY MOTOR; SENSORY NEUROPATHY; DEJERINE-SOTTAS; AXONAL NEUROPATHY; PERIPHERAL NEUROPATHY; MUSCULAR-ATROPHY; POINT MUTATION; HEARING-LOSS;

D O I：

10.23838/pfm.2018.00163

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neuropathies and is both genetically and clinically heterogeneous, with variable inheritance modes. With regard to clinical and genetic aspects, CMT is divided into several subtypes, including CMT1, CMT2, CMT3, CMT4, CMT5, CMT6, X-linked CMT, and intermediate CMT. Up to date, more than 90 causative genes for CMT have been identified. Furthermore, previous animal studies reported some molecules to have therapeutic effects on specific CMT subtypes, depending on the underlying genetic cause. Therefore, accurate genetic diagnosis is of crucial importance when performing customized therapy. Finally, recent investigations on induced pluripotent stem cells expanded the possibility of both patient-specific cell therapy and drug discovery. The current review focuses on the latest classification updates for accurate CMT diagnosis.

引用

页码：43 / 68

页数：26

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