Effect of vitamin E supplementation in patients with ataxia with vitamin Edeficiency

Ataxia with vitamin E (Vit E) defciency (AVED) is an autosomal recessive di sorder caused by mutations of the alpha tocopherol transfer protein gene. T he Friedreich ataxia phenotype is the most frequent clinical presentation. In AVED patients, serum Vit E levels are very low in the absence of intesti nal malabsorption. As Vit E is a major antioxidant agent, Vit E deficiency is supposed to be responsible for the pathological process. Twenty-four AVE D patients were fully investigated (electromyography, nerve conduction velo city (NVC) studies, somatosensory evoked potentials, cerebral computed tomo graphy scan, sural nerve biopsy, genetic studies) and supplemented with Vit E (800 mg daily) during a 1-year period. Clinical evaluation was mainly ba sed on the Ataxia Rating Scale (ARS) for cerebellar ataxia assessment and s erum Vit E levels were monitored. Serum Vit E levels normalized and ARS sco res decreased moderately but significantly suggesting clinical improvement. Better results were noted with mean disease duration less than or equal to 5 years. Reflexes remained abolished and posterior column disturbances unch anged. Vitamin E supplementation in AVED patients stabilizes the neurologic al signs and can lead to mild improvement of cerebellar ataxia, especially in early stages of the disease.