Acta Neuropathologica

, Volume 93, Issue 6, pp 633–637

Friedreich’s ataxia with isolated vitamin E deficiency: a neuropathological study of a Tunisian patient

  • A. Larnaout
  • S. Belal
  • M. Zouari
  • M. Fki
  • C. Ben Hamida
  • H. H. Goebel
  • M. Ben Hamida
  • F. Hentati
Case report

DOI: 10.1007/s004010050662

Cite this article as:
Larnaout, A., Belal, S., Zouari, M. et al. Acta Neuropathol (1997) 93: 633. doi:10.1007/s004010050662

Abstract

The neuropathological findings in a Tunisian patient with Friedreich’s ataxia with vitamin E deficiency are reported. The main histological changes are: (1) spinal sensory system demyelination with neuronal atrophy, axonal spheroids and corpora amylacea; (2) neuronal lipofuscin accumulation in the third cortical layer of the cerebral cortex, thalamus, lateral geniculate body, twelfth and ambiguus nuclei, spinal horns and posterior root ganglia. Ultrastructurally, the lipopigments were of uniform granularity without lipid droplets.

Key words Vitamin EFriedreich’s ataxiaLipofuscin storage

Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • A. Larnaout
    • 1
  • S. Belal
    • 1
  • M. Zouari
    • 1
  • M. Fki
    • 1
  • C. Ben Hamida
    • 1
  • H. H. Goebel
    • 2
  • M. Ben Hamida
    • 1
  • F. Hentati
    • 1
  1. 1.Laboratoire de Neuropathologie et Biologie Moléculaire, Institut National de Neurologie – La Rabta, 1007 Tunis, Tunisia
  2. 2.Fax: 216 1 567 165
  3. 3.Division of Neuropathology, Johannes Gutenberg University, Mainz, GermanyDE