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Acta Neuropathologica

, Volume 83, Issue 5, pp 543–546 | Cite as

Giant axonal neuropathy: report on a case with focal fiber loss

  • M. Sabatelli
  • E. Bertini
  • S. Servidei
  • E. Fernandez
  • S. Magi
  • P. Tonali
Case Reports

Summary

We report on a 5 1/2 year-old boy with chronic progressive polynèuropathy, ataxia, and pyramidal signs. His hair was not curled. Sural nerve biopsy disclosed many axons enlarged by accumulation of 10-nm neurofilaments and a marked variability in the number of myelinated fibers as well as in the amount of axonal enlargements among different fascicles. These findings and the electrophysiological data were consistent with a giant axonal polyneuropathy with a multifocal fiber loss.

Key words

Giant axonal neuropathy Intermediate filaments 

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Copyright information

© Springer-Verlag 1992

Authors and Affiliations

  • M. Sabatelli
    • 1
  • E. Bertini
    • 1
  • S. Servidei
    • 1
  • E. Fernandez
    • 2
  • S. Magi
    • 1
  • P. Tonali
    • 1
  1. 1.Neurological Institute and V.I.L.D.M. RomeRomeItaly
  2. 2.Neurosurgical InstituteCatholic UniversityRomeItaly

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