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Hereditary neuropathy with liability to pressure palsies

  • Shahram AttarianEmail author
  • Farzad Fatehi
  • Yusuf A. Rajabally
  • Davide Pareyson
Review
  • 37 Downloads

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.

Keywords

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

Notes

Compliance with ethical standards

Conflicts of interest

The authors declare that they have no conflict of interest.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Neuromuscular Disease and ALS Reference Center, Timone University HospitalAix-Marseille UniversityMarseille Cedex 05France
  2. 2.Department of Neurology, Iranian Center of Neurological Research, Neurosciences Institute, Shariati HospitalTehran University of Medical SciencesTehranIran
  3. 3.Aston Brain CentreAston UniversityBirminghamUK
  4. 4.Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical NeurosciencesFondazione IRCCS Istituto Neurologico Carlo BestaMilanItaly

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