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Indian Journal of Medical Sciences
Medknow Publications on behalf of Indian Journal of Medical Sciences Trust
ISSN: 0019-5359 EISSN: 0019-5359
Vol. 59, No. 1, 2005, pp. 20-23
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Bioline Code: ms05004
Full paper language: English
Document type: Research Article
Document available free of charge
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Indian Journal of Medical Sciences, Vol. 59, No. 1, 2005, pp. 20-23
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Case Report - Cerebellar ataxia due to isolated vitamin E deficiency
Jayaram S, Soman Aamod, Tarvade Sanjay, Londhe Vikram
Abstract
Ataxia is a common and important neurological finding in medical practice. Severe deficiency of Vitamin E can profoundly affect the central nervous system and can cause ataxia and peripheral neuropathy resembling Friedreich′s ataxia. Vitamin E deficiency can occur with abetalipoproteinemia, cholestatic liver disease or fat malabsorption. Ataxia with isolated Vit E deficiency (AVED) is an Autosomal Recessive genetic disorder with a mutation in the alpha tocopherol transfer protein gene (TTPA). This condition responds to high dose of Vit E and is one of the important causes of treatable ataxia. We report a young patient with Ataxia with isolated Vit E deficiency (AVED) who responded partially to replacement of Vitamin E.
Keywords
Vitamin E, Ataxia, Alpha tocopherol transfer protein, Friedreich′s Ataxia, Ataxia with isolated Vitamin E deficiency
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© Copyright 2005 Indian Journal of Medical Sciences. Alternative site location: http://www.indianjmedsci.org/
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