title: Friedreich's ataxia with isolated vitamin E deficiency: a neuropathological study of a Tunisian patient.
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.
authors.affiliation: Laboratoire de Neuropathologie et Biologie Moléculaire, Institut National de Neurologie-La Rabta, Tunis, Tunisia.
authors.forename: A
authors.initials: A
authors.lastname: Larnaout
authors.forename: S
authors.initials: S
authors.lastname: Belal
authors.forename: M
authors.initials: M
authors.lastname: Zouari
authors.forename: M
authors.initials: M
authors.lastname: Fki
authors.forename: C
authors.initials: C
authors.lastname: Ben Hamida
authors.forename: H H
authors.initials: HH
authors.lastname: Goebel
authors.forename: M
authors.initials: M
authors.lastname: Ben Hamida
authors.forename: F
authors.initials: F
authors.lastname: Hentati
mesh_terms: D000328:Adult; D002531:Cerebellum / Q000473:pathology / Q000648:ultrastructure; D002540:Cerebral Cortex / Q000473:pathology / Q000648:ultrastructure; D005621:Friedreich Ataxia / Q000473:pathology*; D006801:Humans; D008297:Male; D013116:Spinal Cord / Q000473:pathology / Q000648:ultrastructure; D014416:Tunisia; D014811:Vitamin E Deficiency / Q000473:pathology*