X-linked motor and sensory neuropathy with pyramidal signs and cerebral white matter lesions

Muscle Nerve. 2003 Nov;28(5):623-5. doi: 10.1002/mus.10442.

Abstract

We report two brothers with hereditary motor and sensory neuropathies and pyramidal signs. Electrophysiological evaluation revealed polyneuropathy and involvement of the central motor, somatosensory, and auditory pathways. Brain magnetic resonance imaging studies showed diffuse white matter lesions, and sural nerve biopsy identified a reduction in the large myelinated nerve fibers. The patients' mother and sister exhibited similar, but milder neurologic findings suggesting that the genetic defect may be X-linked; however, a point mutation in the connexin 32 gene was negative.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Aged, 80 and over
  • Female
  • Genetic Diseases, X-Linked / genetics
  • Genetic Diseases, X-Linked / pathology*
  • Humans
  • Male
  • Middle Aged
  • Nerve Fibers, Myelinated / pathology
  • Pedigree*
  • Pyramidal Tracts / pathology
  • Spastic Paraplegia, Hereditary / genetics
  • Spastic Paraplegia, Hereditary / pathology*
  • Telencephalon / pathology*