title: [Analysis of the clinical, electrophysiological and genetic features of a family affected with hereditary neuropathy with liability to pressure palsies].
abstract: OBJECTIVE
  To delineate the clinical, electrophysiological and genetics features of a family where 4 members were affected with hereditary neuropathy with liability to pressure palsies (HNPP).
  
  
  METHODS
  Clinical features of the 4 patients were summarized. Electrophysiological examination and genetic analysis were carried out.
  
  
  RESULTS
  All of the patients showed recurrent motor and sensory disturbances after minor traction or constriction. Electrophysiology study revealed that the prolonged latency and reduced conduction velocity of peripheral nerve were general and with multiple sites of affection. The nerve locations liable to entrapment showed conduction block. A deletion mutation of peripheral myelin protein 22 (PMP22) gene was identified by genetic analysis.
  
  
  CONCLUSIONS
  HNPP usually affects areas where nerves are liable to entrapment, and presents with motor and sensory disturbances of the innervated areas. Electrophysiological study reveals general nervous demyelination. Genetic analysis can clarify the diagnosis of HNPP.
authors: Department of Neurology, Linyi People's Hospital, Linyi, Shandong 276003, P. R. China. Email: che1971@126.com.
authors: Faying
authors: F
authors: Qi
authors: Fengyuan
authors: F
authors: Che
mesh_terms: D000328:Adult; D001176:Arthrogryposis / Q000235:genetics* / Q000503:physiopathology; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D009185:Myelin Proteins / Q000235:genetics; D009431:Neural Conduction
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human