Journal
JOURNAL OF THE NEUROLOGICAL SCIENCES
Volume 198, Issue 1-2, Pages 25-29Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/S0022-510X(02)00057-6
Keywords
Friedreich ataxia; vitamin E; GAA expansion; alpha-tocopherol gene
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Fifteen Moroccan families with a phenotype resembling Friedreich Ataxia (FA) were studied. Seven families (13 patients) had the 744 del A mutation in the alpha-tocopherol transfer protein (alpha-TTP) gene, characteristic of ataxia with vitamin E deficiency (AVED). The other eight families (16 patients) had GAA expansions in the first intron of the frataxin gene. The clinical differences between the two groups differed. AVED caused by the 744 del A could be distinguished by head titubation, lower frequency of the neuropathy and slower disease progression, decreased visual activity and retinitis pigmentosa, which has also been associated with a His(101) Gln missense mutation in the a-TTP gene. The neurological disorder associated with vitamin E deficiency can be improved by the alpha-tocopherol treatment. (C) 2002 Elsevier Science B.V. All rights reserved.
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