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Hereditary neuropathy with liability to pressure palsies.

Shahram AttarianFarzad FatehiYusuf A RajaballyDavide Pareyson
Published in: Journal of neurology (2019)
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.
Keyphrases
  • depressive symptoms
  • copy number
  • peripheral nerve
  • single cell
  • genome wide
  • protein protein
  • gene expression
  • middle aged
  • case control
  • amino acid
  • dna methylation
  • fine needle aspiration
  • early life