Acta Neuropathologica

, Volume 33, Issue 1, pp 9–21 | Cite as

Fabry's disease on the mechanism of the peripheral nerve involvement

  • Nobuyoshi Fukuhara
  • Masahiko Suzuki
  • Nagahisa Fujita
  • Tadao Tsubaki
Original Investigations

Summary

A sural nerve biopsy of a patient with Fabry's disease showed depletion of larger myelinated fibres, but smaller myelinated and unmyelinated fibres were intact. Epineurial and to a lesser degree endoneurial vessels revealed abundant lamellar inclusions in the endothelial and perithelial cells. Larger myelinated nerve fibres contained glycogen granules in the vacuoles caused by splitting of the adaxonal membranes. A skin biopsy revealed abundant inclusions in the secretory cells and myoepithelial cells of the sweat glands. The lumen of the gland was packed with inclusions like those in the vessel walls. The pain and anhydrosis might be caused by accumulation of glycolipid in the vasa nervorum and sweat glands and not by autonomic nerve involvement.

Key words

Fabry's Disease Glycolipid Anhydrosis Pain Ultrastructure 

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Copyright information

© Springer-Verlag 1975

Authors and Affiliations

  • Nobuyoshi Fukuhara
    • 1
  • Masahiko Suzuki
    • 1
  • Nagahisa Fujita
    • 1
  • Tadao Tsubaki
    • 1
  1. 1.Department of Neurology, Brain Research InstituteNiigata UniversityNiigataJapan

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