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J Child Neurol. 2016 May;31(6):761-72. doi: 10.1177/0883073815604227. Epub 2015 Sep 18.

A Review of X-linked Charcot-Marie-Tooth Disease.

Author information

1
Department of Pediatrics, Xiangya Hospital of Central South University, Changsha, Hunan, China.
2
Department of Pediatrics, Xiangya Hospital of Central South University, Changsha, Hunan, China Hunan Intellectual and Developmental Disabilities Research Center, Hunan, China yf2323@hotmail.com.

Abstract

X-linked Charcot-Marie-Tooth disease (CMTX) is the second common genetic variant of CMT. CMTX type 1 causes 90% of CMTX. The most important clinical features of CMTX are similar with other types of CMT; however, a few patients get the central nervous system involved with or without white matter lesions; males are more severely and earlier affected than females. In this review, the authors focus on the origin and classification of CMTX, the central nervous system manifestations of CMTX1, the possible mechanism by which GJB1 mutations cause CMT1X, and the emerging therapeutic strategies for CMTX. Moreover, several cases are presented to illustrate the central nervous system manifestations.

KEYWORDS:

Charcot-Marie-Tooth disease; X-linked; central nervous system manifestations; therapeutic strategies; white matter lesions

PMID:
26385972
DOI:
10.1177/0883073815604227
[Indexed for MEDLINE]

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