A progressive limb and gait ataxia, distal loss of proprioception and vibration sense, and areflexia, caused by a prolonged and severe vitamin E deficiency, are reported in four patients evaluated as adults at King’s College, Hammersmith Hospital, and Institutes of Neurology and Child Health, London, UK. Two patients had abetalipoproteinemia and vitamin E was undetectable from birth. One had a familial vitamin E defiency, and had been diagnosed as Friedreich’s ataxia at 13 years of age. One had Crohn’s disease and fat malabsorption dating back to 16 years. Three had striking head tremor. Impaired nigrostriatal activity in the patients with abetalipoproteinemia, demonstrated by reduced dopa uptake using PET studies, was similar to that seen in Parkinson’s disease. 
COMMENT. Some children with typical signs of Friedreich’s ataxia have familial vitamin E deficiency syndrome, with autosomal recessive inheritance. (Ped Neur Briefs Dec 1993;7:91). Early identification and supplementation with vitamin E may halt progression of the ataxia. A dose of 800 mg/day vitamin E in the 43-year-old male patient with this syndrome reported above had stabilized the neurologic status and his serum level of vitamin E was normal.