PMID: 8972536Nov 1, 1996Paper

Ataxia with isolated vitamin E deficiency in four siblings

Pediatric Neurology
Z ShorerS Moses

Abstract

We describe 4 siblings of a consanguineous Bedouin family with Friedreich ataxia phenotype in whom low serum vitamin E levels without other indicators of fat malabsorption were detected. Although age of onset and some of the clinical features were alike in all 4 patients, the electrophysiological parameters were markedly abnormal in 2, but normal in the other 2. Erythrocytes revealed both membranous and intracellular evidence of oxidative damage. The mutations described in other families with ataxia with isolated vitamin E deficiency were not detectable, nor was an abnormal single-stranded conformation polymorphism pattern apparent in the three exons at the 3' region of the gene. Vitamin E administration in pharmacological doses improved the neurological condition in 2 patients and also corrected some of the patients' erythrocyte cell abnormalities. The finding of vitamin E deficiency in other cases of Friedreich ataxia phenotype may allow treatment at an early stage of the disease, when large dose Vitamin E therapy may reverse the neurological lesions.

References

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Citations

Nov 14, 1997·Clinica Chimica Acta; International Journal of Clinical Chemistry·D MazorN Meyerstein
Jun 27, 2009·Nutrition Research Reviews·Concepción Sánchez-MorenoAntonio Martín
Sep 25, 2001·Journal of Pediatric Gastroenterology and Nutrition·J M AparicioH Escobar
Aug 2, 2002·Journal of Child Neurology·Jacek PilchElzbieta Marszał

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