PT - JOURNAL ARTICLE AU - Hammans, S R AU - Kennedy, C R TI - Ataxia with isolated vitamin E deficiency presenting as mutation negative Friedreich’s ataxia AID - 10.1136/jnnp.64.3.368 DP - 1998 Mar 01 TA - Journal of Neurology, Neurosurgery & Psychiatry PG - 368--370 VI - 64 IP - 3 4099 - http://jnnp.bmj.com/content/64/3/368.short 4100 - http://jnnp.bmj.com/content/64/3/368.full SO - J Neurol Neurosurg Psychiatry1998 Mar 01; 64 AB - Ataxia with vitamin E deficiency is an autosomal recessive condition associated with a defect in the α-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.