Hereditary neuropathy with liability to pressure palsy

Folia Neuropathol. 2006;44(4):290-4.

Abstract

Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disease with sensory and motor nerve palsies usually precipitated by trivial trauma or compression. In the majority of cases HNPP is caused by deletion of the peripheral myelin protein 22 gene (PMP22) on chromosome 17p11.2. The authors present a family case with genetically proven HNPP.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Female
  • Gene Deletion*
  • Genetic Predisposition to Disease*
  • Hereditary Sensory and Motor Neuropathy / genetics
  • Hereditary Sensory and Motor Neuropathy / pathology*
  • Hereditary Sensory and Motor Neuropathy / physiopathology*
  • Humans
  • Myelin Proteins / genetics*
  • Paralysis / etiology
  • Paralysis / genetics*
  • Pressure

Substances

  • Myelin Proteins
  • PMP22 protein, human