Hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibers

G. L. Mancardi, M. Di Rocco, A. Schenone, E. Veneselli, M. Doria, M. Abbruzzese, M. Tabaton, C. Borrone

Research output: Contribution to journalArticle


Two brothers with a presumably hereditary motor and sensory polyneuropathy (HMSN), sensory-neural hearing loss and mental retardation had clinical features and neuropathological changes in the sural nerve which may set the disorder apart from previously described types of HMSN. Consecutive sural nerve biopsies from one case showed absence of large myelinated fibers and a normal complement of small fibers. We infer from our findings that a developmental abnormality with faulty growth and subsequent axonal atrophy may be responsible.

Original languageEnglish
Pages (from-to)121-130
Number of pages10
JournalJournal of the Neurological Sciences
Issue number1-2
Publication statusPublished - 1992



  • Axonal atrophy
  • Deafness
  • Hereditary motor and sensory neuropathy
  • Mental retardation
  • Sural nerve biopsy

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Surgery
  • Neuroscience(all)
  • Developmental Neuroscience
  • Neurology

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