title: Hereditary neuropathy with liability to pressure palsy: an investigation in a rare and large Chinese family.
abstract: BACKGROUND
  Hereditary neuropathy with liability to pressure palsy (HNPP), mainly associated with the peripheral myelin protein 22 (PMP22) gene, is generally an autosomal-dominant inherited peripheral neuropathy. The present large family including four generations provides an exciting opportunity to gain important insights into HNPP in China.
  
  
  METHODS
  A large 43-member family with ten members suspected to be affected by HNPP was studied. Neurologic examinations, electrophysiological and neuropathological studies and molecular genetic testing were used for these kindred.
  
  
  RESULTS
  Clinically, the proband had limb hyposthenia and atrophy, and his mother showed declined tendon reflexes in the right lower limb. Electrophysiologically, sensory and motor nerve conduction velocities were generalized reduced. Sural nerve biopsy for the proband showed focal thickesning of the myelin sheaths. Furthermore, real-time quantitative PCR demonstrated that the PMP22 gene has a higher Ct value than reference gene in all suspected patients.
  
  
  CONCLUSIONS
  These results indicated that the family is indeed a rare and large pedigree of HNPP caused by the deletion of PMP22 gene. Given that the suspected patient in the fourth generation is absent, this family is still worthy of further follow-up study.
authors.affiliation: School of Basic Medical Sciences, Wuhan University, Wuhan, PR China.
authors.forename: Yuan
authors.initials: Y
authors.lastname: He
authors.forename: Qiang
authors.initials: Q
authors.lastname: Wu
authors.forename: Zhipeng
authors.initials: Z
authors.lastname: Xu
authors.forename: Qianqian
authors.initials: Q
authors.lastname: Wang
authors.forename: Weili
authors.initials: W
authors.lastname: Wang
authors.forename: Dezhong
authors.initials: D
authors.lastname: Li
authors.forename: Wanhong
authors.initials: W
authors.lastname: Liu
authors.forename: Xiaohua
authors.initials: X
authors.lastname: He
mesh_terms: D002681:China; D005260:Female; D005500:Follow-Up Studies; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008297:Male; D009186:Myelin Sheath / Q000235:genetics; D009431:Neural Conduction / Q000235:genetics*; D010243:Paralysis / Q000235:genetics*; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D011312:Pressure; D013497:Sural Nerve / Q000473:pathology* / Q000648:ultrastructure