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.