Cerebellar ataxia due to isolated vitamin E deficiency.
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.
Jayaram
S
S
Department of Medicine, Sir J. J. Group of Hospitals, Grant Medical College, Mumbai - 400 008, India.
Soman
Aamod
A
Tarvade
Sanjay
S
Londhe
Vikram
V
D000293:Adolescent; D002352:Carrier Proteins / Q000235:genetics; D002524:Cerebellar Ataxia / Q000209:etiology*; D005260:Female; D006801:Humans; D014811:Vitamin E Deficiency / Q000150:complications*
D002352:Carrier Proteins; C017763:alpha-tocopherol transfer protein