ATAXIA WITH ISOLATED VITAMIN-E-DEFICIENCY IN 4 SIBLINGS

We describe 4 siblings of a consanguineous Bedouin family with Friedre ich ataxia phenotype in whom low serum vitamin E levels without other indicators of fat malabsorption were detected, Although age of onset a nd some of the clinical features were alike in all 4 patients, the ele ctrophysiological parameters were markedly abnormal in 2, but normal i n the other 2. Erythrocytes revealed both membranous and intracellular evidence of oxidative damage. The mutations described in other famili es 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 a dministration in pharmacological doses improved the neurological condi tion in 2 patients and also corrected some of the patients' erythrocyt e cell abnormalities, The finding of vitamin E deficiency in other cas es of Friedreich ataxia phenotype may allow treatment at an early stag e of the disease, when large dose Vitamin E therapy may reverse the ne urological lesions. (C) 1996 by Elsevier Science Inc.