Ataxia With Isolated Vitamin E Deficiency☆

Ataxia with vitamin E deficiency is a rare recessive disorder due to mutations in the α-tocopherol transfer protein gene. The disease usually starts between 4 and 18 years of age with progressive gait and limb ataxia, dysarthria, lower-limb areflexia, loss of proprioceptive and vibration sense, and extensor plantar response. Frequently, the patients have head titubation and retinopathy. The finding very low levels of plasma vitamin E, in the absence of clinical conditions associated with fat malabsorption, can guide differential diagnosis. Mutational screening of TTPA gene can identify the pathogenic mutations and confirm the diagnosis of AVED. Patients need vitamin E supplementation therapy for stabilization of the neurological symptoms.