title: Phenotypic Variability Leads to Under-recognition of HNPP.
abstract: OBJECTIVE
  To determine the range of phenotypic expression in individuals with hereditary neuropathy with liability to pressure palsy (HNPP) with the chromosome 17 deletion.
  
  
  METHODS
  Twenty-one patients from 10 families were studied. Genetic testing was performed in at least one member of each family. Every patient was examined clinically, electrophysiological data was available in 18 patients, and a sural nerve biopsy was performed on 4 patients. In addition, a patient symptom questionnaire was administered over the telephone to identify symptomatic individuals from the at-risk population.
  
  
  RESULTS
  The identified phenotypes were those of compressive neuropathy, symmetric peripheral neuropathy (often misdiagnosed as Charcot-Marie-Tooth neuropathy), acute brachial paralysis, and confluent mononeuropathy multiplex. Many individuals were oligosymptomatic and these formed the majority of undiagnosed patients.
  
  
  CONCLUSIONS
  The presence of mild symptoms and the marked phenotypic variability of the disease result in underdiagnosis of HNPP.
authors.affiliation: From the Department of Neurology, University of Minnesota, Minneapolis, Minnesota.
authors.forename: Neeraj
authors.initials: N
authors.lastname: Kumar
authors.forename: Suraj
authors.initials: S
authors.lastname: Muley
authors.forename: Anthony
authors.initials: A
authors.lastname: Pakiam
authors.forename: Gareth J
authors.initials: GJ
authors.lastname: Parry