Peripheral nerve fibre changes in asymptomatic children of patients with familial amyloid polyneuropathy

Brain. 1976 Mar;99(1):1-10. doi: 10.1093/brain/99.1.1.

Abstract

Sural nerve biopsies of 5 children of patients with familial amyloid polyneuropathy were studied by electronmicroscopy. The subjects were 14-17 years old and were in normal health. Neurological examination was negative. In none of the sural nerve specimens were there any amyloid deposits. In Case 4 no fine structural changes were detected. In the remaining 4 cases, there were frequent deposits of glycogen and clusters of multimembranous bodies in the Schwann-cell crescents of large myelinated fibres which presented infoldings of the myelin sheath, irregular myelin lamellation and a great number of Schmidt-Lanterman incisures. In one nerve fasciculus of Case 5 the myelin sheaths of some large myelinated fibres were extremely thickened; the axoplasm exhibited dilated vesicles and disordered microfilaments. These findings were taken as evidence of the occurrence of nerve fibre lesions at the pre-symptomatic stage of the disease, which seem to precede the appearance of amyloid deposition. The lesions affected primarily the Schwann cell and myelin sheath, and spared the unmyelinated fibres.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Amyloidosis / genetics*
  • Female
  • Humans
  • Inclusion Bodies / ultrastructure
  • Male
  • Middle Aged
  • Myelin Sheath / pathology
  • Pedigree
  • Peripheral Nerves / pathology*
  • Peripheral Nervous System Diseases / genetics*
  • Peripheral Nervous System Diseases / pathology
  • Schwann Cells / ultrastructure
  • Sural Nerve / pathology
  • Syndrome