Hanyang Med Rev.  2006 Feb;26(1):94-103.

Pathogenic Mechanisms and Causable Genes in Charcot-Marie-Tooth Disease

• Kim SB
• Park KD
• Choi BO

Abstract

Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. CMT is a genetically heterogeneous disorder of the peripheral nervous system; thus, many genes have been identified as CMTcausative genes. Traditionally, subclassification of CMT has been divided into autosomal dominant inherited demyelinating (CMT1) and axonal (CMT2) neuropathies, X-linked neuropathy (CMTX), and autosomal recessive inherited neuropathy (CMT4). Recently, intermediate type (CMT-Int) with NCVs between CMT1 and CMT2 is considered as a CMT type. There are several related peripheral neuropathies, such as Dejerine- Sottas neuropathy (DSN), congenital hypomyelination (CH), hereditary neuropathy with pressure palsies (HNPP), and giant axonal neuropathy (GAN). Great advances have been made in understanding the molecular basis of CMT, and 17 distinct genetic causes of CMT have been identified. The number of newly discovered mutations and identified genetic loci is rapidly increasing, and this expanding list has proved challenging for physicians trying to keep up with the field. In addition, the encouraging studies have been published on rational potential therapies for the CMT1A.

Keyword

Charcot-Marie-Tooth disease; Peripheral nervous system; Schwann cell; Axonopathy; Gene; Mutation

MeSH Terms

Axons
Charcot-Marie-Tooth Disease*
Genetic Loci
Giant Axonal Neuropathy
Paralysis
Peripheral Nervous System
Peripheral Nervous System Diseases