Case report

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. LarnaoutAffiliated withLaboratoire de Neuropathologie et Biologie Moléculaire, Institut National de Neurologie – La Rabta, 1007 Tunis, Tunisia
  • , S. BelalAffiliated withLaboratoire de Neuropathologie et Biologie Moléculaire, Institut National de Neurologie – La Rabta, 1007 Tunis, Tunisia
  • , M. ZouariAffiliated withLaboratoire de Neuropathologie et Biologie Moléculaire, Institut National de Neurologie – La Rabta, 1007 Tunis, Tunisia
  • , M. FkiAffiliated withLaboratoire de Neuropathologie et Biologie Moléculaire, Institut National de Neurologie – La Rabta, 1007 Tunis, Tunisia
  • , C. Ben HamidaAffiliated withLaboratoire de Neuropathologie et Biologie Moléculaire, Institut National de Neurologie – La Rabta, 1007 Tunis, Tunisia
  • , H. H. GoebelAffiliated withFax: 216 1 567 165
  • , M. Ben HamidaAffiliated withLaboratoire de Neuropathologie et Biologie Moléculaire, Institut National de Neurologie – La Rabta, 1007 Tunis, Tunisia
  • , F. HentatiAffiliated withLaboratoire de Neuropathologie et Biologie Moléculaire, Institut National de Neurologie – La Rabta, 1007 Tunis, Tunisia

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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 E Friedreich’s ataxia Lipofuscin storage