Cerebellar ataxia due to isolated vitamin E deficiency.
Indian J Med Sci
;
2005 Jan; 59(1): 20-3
Article
in English
| IMSEAR
| ID: sea-66941
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Vitamin E Deficiency
/
Female
/
Humans
/
Carrier Proteins
/
Cerebellar Ataxia
/
Adolescent
Language:
English
Journal:
Indian J Med Sci
Year:
2005
Type:
Article
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