NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement
NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement
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DOI：
10.1016/j.nmd.2006.10.002
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发表时间：
2007-02-01
影响因子：
2.8
通讯作者：
Leheup, Bruno
中科院分区：
文献类型：
--
作者：
Echaniz-Laguna, Andoni;Degos, Bertrand;Leheup, Bruno
腓骨肌萎缩症4D型（CMT 4D）是一种常染色体隐性遗传性脱髓鞘性多发性神经病，与仅在吉普赛人中发现的耳聋相关，由N-myc下游调节基因1（NDRG 1）中的纯合R148 X突变引起。我们报告了一个没有吉普赛血统的家族的详细表型研究，该家族表现为严重的脱髓鞘性多发性神经病、耳聋、脑磁共振成像研究中皮质下白色物质异常和NDRG 1中的R148 X突变。首次在CMT 4D中显示中枢神经系统白色病变。该报告扩展了CMT 4D的临床知识，并表明NDRG 1中的R148 X突变在中枢神经系统中的作用应进一步研究。(C)2006 Elsevier B. V.保留所有权利。
Charcot-Marie-Tooth disease type 4D (CMT4D) is an autosomal recessive demyelinating polyneuropathy, associated with deafness exclusively found in Gypsies and resulting from a homozygous R148X mutation in the N-myc downstream-regulated gene 1 (NDRG1). We report the detailed phenotypic study of a family without Gypsy ancestry, who presented with severe demyelinating polyneuropathy, deafness, subcortical white matter abnormalities on brain magnetic resonance imaging studies, and the R148X mutation in NDRG1. For the first time, central nervous system white matter lesions are demonstrated in CMT4D. This report extends the clinical knowledge of CMT4D and indicates that the role of the R148X mutation in NDRG1 in the central nervous system should be further studied. (C) 2006 Elsevier B.V. All rights reserved.