Recessive hereditary sensory neuropathy

J Neurol Sci. 1976 Oct;29(2-4):371-87. doi: 10.1016/0022-510x(76)90186-6.

Abstract

Clinical features in 2 cases of a recessive form of hereditary sensory neuropathy and the light and electron microscopy of sural nerve biopsy in 1 of them are described. The patients showed symptoms typical of this form of the disease; it should be stressed however that the loss of cutaneous sensation appeared to be limited to the distal parts of the lower extremities and involved all modalities of cutaneous sensation. Histological examination of sural nerve revealed a marked reduction in the number of myelinated fibres due to Wallerian-like axonal degeneration, of which various stages were represented. In addition, segmental demyelination, probably secondary to axonal changes, was seen. The unmyelinated fibres were also involved but to a lesser degree than the myelinated fibres. The observations indicate a progressive nature of the pathological process.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Axons / ultrastructure
  • Child
  • Endoplasmic Reticulum / ultrastructure
  • Genes, Recessive*
  • Humans
  • Male
  • Nerve Fibers, Myelinated / ultrastructure
  • Peripheral Nervous System Diseases / genetics*
  • Peripheral Nervous System Diseases / pathology
  • Sural Nerve / ultrastructure