Recurrent familial neuropathy due to liability to pressure palsies

R. Marazzi, D. Pareyson, V. Scaioli, M. Corbo, A. Boiardi, G. Chiodelli, A. Sghirlanzoni

Research output: Contribution to journalArticle

Abstract

Two families with hereditary neuropathy with liability to pressure palsies (HNPP) were evaluated clinically, electrophysiologically and pathologically (2 index cases). Familial patterns suggest autosomal dominant inheritance. The clinical presentation is characteristic, with recurrent painless transitory mononeuropathy, without evident triggering factors, or caused by trivial trauma or pressure. In affected members neurophysiological studies showed diffuse slowing in nerve conduction, more evident at common sites of entrapment. Somatosensory evoked potentials (SEPs) showed bilateral peripheral abnormalities with proximal nerve incolvement more pronounced in older patients. 40 to 75% of teased fibers displayed sausage-shaped swellings. Ultrastructurally some sausages showed redundant myelin loops and excessive number of myelin lamellae that seem to cause axonal constriction.

Original languageEnglish
Pages (from-to)355-363
Number of pages9
JournalItalian Journal of Neurological Sciences
Volume9
Issue number4
DOIs
Publication statusPublished - Aug 1988

Keywords

  • Hereditary neuropathy
  • myelin abnormalities
  • pressure palsies
  • Schwann cell dysfunction

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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