Zhiliang Yu1, Xiaohua Wu2, Huijun Xie3, Ying Han2, Yangtai Guan3, Yong Qin2, Huimin Zheng3, Jianming Jiang3, Zhenmin Niu4. 1. Department of Neurology, Shanghai Seventh People's Hospital Shanghai, China ; Department of Neurology, Changhai Hospital, Second Military Medical University Shanghai, China. 2. Department of Neurology, Shanghai Seventh People's Hospital Shanghai, China. 3. Department of Neurology, Changhai Hospital, Second Military Medical University Shanghai, China. 4. Chinese National Human Genome Center at Shanghai Shanghai, China.
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.
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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