Ataxia with vitamin E deficiency is an autosomal recessive condition associated 
with a defect in the a-tocopherol transfer protein. Clinically it manifests as a 
progressive ataxia with a phenotype resembling that of Friedreich's ataxia. 
There is some evidence that progression of neurological symptoms is prevented by 
vitamin E therapy. A patient is described who was given a clinical diagnosis of 
Friedreich's ataxia. Molecular genetic analysis showed the absence of the 
frataxin gene expansion. Subsequent vitamin E assay showed deficiency and a 
diagnosis of ataxia with vitamin E deficiency was made. It is recommended that 
all patients with ataxia of unknown cause should have vitamin E deficiency 
excluded. When a diagnosis of Friedreich's ataxia is considered patients should 
have frataxin analysis in addition. Further, neurologists should be aware that 
ataxia with vitamin E deficiency may present as "mutation negative" Friedreich's 
ataxia.