Ataxia with isolated vitamin E deficiency presenting as mutation negative Friedreich’s ataxia

Hammans SR, Kennedy CR. Journal of Neurology, Neurosurgery & Psychiatry 1998;64:368-370. doi:10.1136/jnnp.64.3.368

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.

Case report: A 16 year old girl was referred with a previous clinical diagnosis of Friedreich’s ataxia.

We suggest that all patients with progressive ataxia of unknown cause should have vitamin E assayed. This should be performed with frataxin studies in patients in whom the diagnosis of Friedreich’s ataxia is considered. Further, any patient with a clinical diagnosis of Friedreich’s ataxia with negative mutation analysis should have vitamin E measured.