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

M. Sabatelli, E. Bertini, S. Servidei, E. Fernandez, S. Magi, P. Tonali

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)543-546
Number of pages4
JournalActa Neuropathologica
Volume83
Issue number5
DOIs
Publication statusPublished - Apr 1992

Keywords

  • Giant axonal neuropathy
  • Intermediate filaments

ASJC Scopus subject areas

  • Neuroscience(all)
  • Pathology and Forensic Medicine
  • Clinical Neurology

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    Sabatelli, M., Bertini, E., Servidei, S., Fernandez, E., Magi, S., & Tonali, P. (1992). Giant axonal neuropathy: report on a case with focal fiber loss. Acta Neuropathologica, 83(5), 543-546. https://doi.org/10.1007/BF00310034