title: [Analysis of the pathological features and gene mutations of Chinese patients with Charcot-Marie-Tooth disease].
abstract: OBJECTIVE
  To analyze the relationship of the pathological features and the gene mutations of Chinese patients with Charcot-Marie-Tooth disease.
  
  
  METHODS
  The clinical manifestations and pathological investigations of 26 Chinese patients with Charcot-Marie-Tooth disease, 17 males and 9 females, aged 19.0 (4 - 49), with an average disease course of 0.5 - 30 years, 16 being with CMT1 type and 10 being with CMT2 type. Biopsy of sural nerve was conducted in 26 cases, and gene diagnosis was carried out in 13 cases.
  
  
  RESULTS
  Five patients were with peripheral myelin protein-22 (PMP22) duplication, 4 of which showed demyelination, 4 of which showed incrassation of myelin sheath, and two of which showed "onion bulb" change without axonal denaturation. Four cases were with connexin 32 (Cx32) point mutations, 3 of which showed demyelination and one of which showed incrassation of myelin sheath and absence of axonal denaturation. The 2 patients with heat shock protein 22 (Hsp22) and heat shock protein 27 (Hsp27) point mutations both showed axonal atrophy, axonal loss and axonal regeneration.
  
  
  CONCLUSIONS
  The pathological findings of the Chinese CMT patients performed by mutation screening were not completely consistent with the pathological features reported abroad. The results of the mutation screening are consistent with the pathological features; mutation screening has the character of high accuracy, little harm and helps diagnose early, so it is suggested to be performed widely clinically, especially to the patients who has family history or to their lineal relatives.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China.
authors.forename: Peng
authors.initials: P
authors.lastname: Guo
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
authors.forename: Guo-hua
authors.initials: GH
authors.lastname: Zhao
authors.forename: Xiao-min
authors.initials: XM
authors.lastname: Liu
authors.forename: Fu-feng
authors.initials: FF
authors.lastname: Zhang
authors.forename: Ru-xu
authors.initials: RX
authors.lastname: Zhang
authors.forename: Lu
authors.initials: L
authors.lastname: Shen
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
authors.forename: Jing-hui
authors.initials: JH
authors.lastname: Liang
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D017630:Connexins / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D055551:HSP27 Heat-Shock Proteins / Q000235:genetics; D006360:Heat-Shock Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones; D009154:Mutation; D009185:Myelin Proteins / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D012189:Retrospective Studies; D013497:Sural Nerve / Q000473:pathology*; D055815:Young Adult; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D055551:HSP27 Heat-Shock Proteins; D006360:Heat-Shock Proteins; D018832:Molecular Chaperones; D009185:Myelin Proteins; D017346:Protein Serine-Threonine Kinases; D000097002:Gap Junction beta-1 Protein; C057725:HSPB1 protein, human; C413214:HSPB8 protein, human; C073687:PMP22 protein, human