ATAXIA WITH ISOLATED VITAMIN-E-DEFICIENCY PRESENTING AS MUTATION NEGATIVE FRIEDREICHS ATAXIA

Ataxia with vitamin E deficiency is an autosomal recessive condition a ssociated with a defect in the alpha-tocopherol transfer protein. Clin ically it manifests as a progressive ataxia with a phenotype resemblin g 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 ataxi a. Molecular genetic analysis showed the absence of the frataxin gene expansion. Subsequent vitamin E assay showed deficiency and a diagnosi s of ataxia with vitamin E deficiency was made. It is recommended that all patients with ataxia of unknown cause should have vitamin E defic iency excluded. When a diagnosis of Friedreich's ataxia is considered patients should have frataxin analysis in addition. Further, neurologi sts should be aware that ataxia with vitamin E deficiency may present as ''mutation negative'' Friedreich's ataxia.