Characteristics of demyelinating Charcot-Marie-Tooth disease with concurrent diabetes mellitus.
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| Abstract | PURPOSE:
Charcot-Marie-Tooth disease (CMT) is the most common type of inherited peripheral neuropathy and has a high degree of genetic heterogeneity. CMT with concurrent diabetes mellitus (DM) is rare. The purpose of this study is to explore the genetic, clinical and pathological characteristics of the patients with CMT and concurrent DM. METHODS: We investigated gene mutations (the peripheral myelin protein 22 gene, myelin protein zero gene, lipopolysaccharide-induced tumor necrosis factor-α factor gene, early growth response gene and the neurofilament light chain gene loci) of a relatively large and typical Chinese family with CMT1 and concurrent DM2. From the literature, we also retrieved all reported families and single cases with CMT and concurrent DM. We comprehensively analyzed the characteristics of total 33 patients with CMT and concurrent DM, and further compared these characteristics with those of patients of diabetic peripheral neuropathy (DPN). RESULTS: Patients with CMT and concurrent DM had some relatively independent characteristics and pathogenic mechanisms. So we designated that kind of characteristic demyelinating CMT which accompanies DM as Yu-Xie syndrome (YXS), a new specific clinical subtype of CMT. CONCLUSION: CMT is an etiologic factor of DM, even though the intrinsic association between CMT and DM still remains further exploration.
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| Authors | Zhiliang Yu, Xiaohua Wu, Huijun Xie, Ying Han, Yangtai Guan, Yong Qin, Huimin Zheng, Jianming Jiang, Zhenmin Niu |
| Journal | International journal of clinical and experimental pathology (Int J Clin Exp Pathol) Vol. 7 Issue 7 Pg. 4329-38 ( 2014) ISSN: 1936-2625 [Electronic] United States |
| PMID | 25120817 (Publication Type: Journal Article) |
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