Hereditary neuropathy with liability to pressure palsies

Shahram Attarian, Farzad Fatehi, Yusuf A. Rajabally, Davide Pareyson

Research output: Contribution to journalArticle

Abstract

Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by recurrent sensory and motor neuropathy in individual nerves starting in adolescence or young adulthood, focal conduction abnormalities at entrapment sites on nerve conduction studies, and sausage-like swellings (tomacula) of the myelin sheaths by nerve biopsy. It is characterized genetically by the deletion of the chromosome 17p11.2–p12 region including the peripheral myelin protein-22 gene in the overwhelming majority of cases. HNPP may be frequently underdiagnosed or misdiagnosed owing to the heterogeneity of clinical and electrophysiological appearance. The main objective of this review is to describe clinical manifestations, paraclinical features such as electrodiagnostic, pathological, radiological and genetics findings, and possible treatments.
Original languageEnglish
Number of pages9
JournalJournal of Neurology
Early online date15 Apr 2019
DOIs
Publication statusE-pub ahead of print - 15 Apr 2019

Keywords

  • Entrapment
  • HNPP
  • Hereditary motor and sensory neuropathy
  • Hereditary neuropathy with liability to pressure palsies
  • PMP22

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