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

• Published in: Acta neuropathologica Vol. 93; no. 6; pp. 633 - 637
• Main Authors: LARNAOUT, A, BELAL, S, ZOUARI, M, FKI, M, HAMIDA, C. B, GOEBEL, H. H, BEN HAMIDA, M, HENTATI, F
• Format: Journal Article
• Language: English
• Published: Berlin Springer 01-06-1997; Springer Nature B.V
• Subjects: Adult; Ataxia; Atrophy; Biological and medical sciences; Cerebellum - pathology; Cerebellum - ultrastructure; Cerebral cortex; Cerebral Cortex - pathology; Cerebral Cortex - ultrastructure; Cortex (somatosensory); Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Demyelination; Friedreich Ataxia - pathology; Ganglia; Humans; Male; Medical sciences; Neurology; Neuropathology; Spheroids; Spinal Cord - pathology; Spinal Cord - ultrastructure; Thalamus; Tropical medicine; Tunisia; Vitamin deficiency; Vitamin E; Vitamin E Deficiency - pathology; Tunisia; Africa; Human; Nervous system diseases; Family study; Deficiency; Vitamin; Male; α-Tocopherol; Lipofuscin; Electron microscopy; Cerebral disorder; Genetic disease; Case study; Pathology; Storage; Autopsy; Central nervous system disease; Young adult; Chromosome 8; Degenerative disease; Friedreich ataxia; Mutation; Spinal cord disease
• ISSN: 0001-6322; 1432-0533
• DOI: 10.1007/s004010050662

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.