title: Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy.
abstract: BACKGROUND
  The first episode of hereditary neuropathy with liability to pressure palsy (HNPP) in childhood is rare.
  
  
  METHODS
  We analyzed retrospectively the data of 7 patients with a deletion in PMP22 and onset of symptoms before age 18 years. Direct sequencing of the LITAF (lipopolysaccharide-induced tumor necrosis factor) gene was performed in patients and family members.
  
  
  RESULTS
  Clinical presentations varied from mononeuropathies to brachial plexopathy, with recurrent episodes in 4 patients. Electrophysiological abnormalities characteristic for HNNP were found in most subjects. Analysis of the LITAF gene revealed an Ile92Val polymorphism in 6 of 7 (86%) probands and 5 of 7 (83%) family members, over 4 times greater frequency than in the general population.
  
  
  CONCLUSIONS
  Clinical suspicion of HNPP even when nerve conduction study results do not fulfill HNPP criteria should indicate genetic testing. In our patients, early-onset HNPP was associated frequently with isoleucine92valine LITAF polymorphism.
authors.affiliation: Department of Neurology, Medical University of Warsaw, Banacha 1a Street, 02-097, Warsaw, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Potulska-Chromik
authors.forename: Elena
authors.initials: E
authors.lastname: Sinkiewicz-Darol
authors.forename: Barbara
authors.initials: B
authors.lastname: Ryniewicz
authors.forename: Marta
authors.initials: M
authors.lastname: Lipowska
authors.forename: Dagmara
authors.initials: D
authors.lastname: Kabzińska
authors.forename: Andrzej
authors.initials: A
authors.lastname: Kochański
authors.forename: Anna
authors.initials: A
authors.lastname: Kostera-Pruszczyk
mesh_terms: D000293:Adolescent; D000367:Age Factors; D017668:Age of Onset; D001176:Arthrogryposis / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D004594:Electrophysiology / Q000379:methods; D005260:Female; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D008297:Male; D009185:Myelin Proteins / Q000235:genetics; D009431:Neural Conduction / Q000502:physiology*; D009687:Nuclear Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D012189:Retrospective Studies; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C118738:LITAF protein, human; D009185:Myelin Proteins; D009687:Nuclear Proteins; C073687:PMP22 protein, human; D014157:Transcription Factors
keywords: Charcot-Marie-Tooth disease; LITAF; PMP22; childhood hereditary neuropathy; hereditary neuropathy with liability to pressure palsy