Age-dependent axonal loss in nerve biopsy of patients with xeroderma pigmentosum

Neuromuscul Disord. 1992;2(5-6):361-9. doi: 10.1016/s0960-8966(06)80007-6.

Abstract

We describe the histomorphometric changes in the superficial peroneal nerve biopsy from 13 patients with xeroderma pigmentosum (XP). The mean age at time of biopsy was 15 yr (range 2.5-24 yr). The clinical examination was normal in the two youngest patients and showed absence of the deep tendon reflexes, with choreo-athetosis in ten patients. In addition, in the three oldest patients there were cerebellar signs, ataxia and Babinski signs. The nerve biopsy showed an age-dependent decrease of myelinated fibres, which was mild in the youngest and severe in the oldest patients. This was associated with rare acute axonal degeneration, sparse axonal regeneration, rare axonal atrophy and few onion bulb formations. These findings suggest a neuropathic process. This neuronal degeneration seems to be a progressive and stereotyped phenomenon in XP.

MeSH terms

  • Adolescent
  • Adult
  • Aging / pathology*
  • Axons / pathology*
  • Child
  • Child, Preschool
  • Humans
  • Nerve Degeneration
  • Nerve Fibers / ultrastructure
  • Nerve Fibers, Myelinated / pathology
  • Nerve Regeneration
  • Peroneal Nerve / pathology
  • Xeroderma Pigmentosum / pathology*