title: Characteristics of demyelinating Charcot-Marie-Tooth disease with concurrent diabetes mellitus.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  CMT is an etiologic factor of DM, even though the intrinsic association between CMT and DM still remains further exploration.
authors.affiliation: Department of Neurology, Shanghai Seventh People's Hospital Shanghai, China ; Department of Neurology, Changhai Hospital, Second Military Medical University Shanghai, China.
authors.forename: Zhiliang
authors.initials: Z
authors.lastname: Yu
authors.affiliation: Department of Neurology, Shanghai Seventh People's Hospital Shanghai, China.
authors.forename: Xiaohua
authors.initials: X
authors.lastname: Wu
authors.affiliation: Department of Neurology, Changhai Hospital, Second Military Medical University Shanghai, China.
authors.forename: Huijun
authors.initials: H
authors.lastname: Xie
authors.affiliation: Department of Neurology, Shanghai Seventh People's Hospital Shanghai, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Han
authors.affiliation: Department of Neurology, Changhai Hospital, Second Military Medical University Shanghai, China.
authors.forename: Yangtai
authors.initials: Y
authors.lastname: Guan
authors.affiliation: Department of Neurology, Shanghai Seventh People's Hospital Shanghai, China.
authors.forename: Yong
authors.initials: Y
authors.lastname: Qin
authors.affiliation: Department of Neurology, Changhai Hospital, Second Military Medical University Shanghai, China.
authors.forename: Huimin
authors.initials: H
authors.lastname: Zheng
authors.affiliation: Department of Neurology, Changhai Hospital, Second Military Medical University Shanghai, China.
authors.forename: Jianming
authors.initials: J
authors.lastname: Jiang
authors.affiliation: Chinese National Human Genome Center at Shanghai Shanghai, China.
authors.forename: Zhenmin
authors.initials: Z
authors.lastname: Niu
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000235:genetics; D002681:China; D003924:Diabetes Mellitus, Type 2 / Q000209:etiology* / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction
keywords: Charcot-Marie-Tooth disease; Yu-Xie syndrome; diabetes mellitus; pedigree analysis