July 25, 2016: Ataxia with vitamin E deficiency

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July 25, 2016

Ataxia with vitamin E deficiency

Ataxia with vitamin E deficiency (AVED) is an autosomal recessive hereditary progressive neurodegenerative disorder characterized by ataxia and peripheral neuropathy. It is caused by alpha-tocopherol transfer protein (TTPA) gene mutations resulting in decreased serum vitamin E concentrations and neuronal oxidative stress. The clinical presentation is similar to Friedrich's ataxia with ataxia, hyporeflexia, dysarthria, decreased proprioception and vibration sense.1 AVED is also associated with cardiomyopathy and retinitis pigmentosa. Other vitamin E deficiency causes including malabsorption syndromes have been described with similar presentations. Investigation of progressive ataxia should consider AVED, as early treatment with high dose vitamin E may affect prognosis.2

  1. Mariotti C, Gellera C, Rimoldi M, et al. Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. Neurol Sci 2004; 25:130-137.
  2. Anheim M, Tranchant C, Koenig M. The autosomal recessive hereditary ataxias. N Engl J Med 2012; 366:636-646.

Submitted by David Dongkyung Kim, MD, Western University, London, ON, Canada.

Dr. Kim report no disclosures.

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