Changes in vitamin E concentration in red blood cells and plasma of patients with olivopontocerebellar ataxia within the Schut-Swier kindred.

Many reports have documented the importance of vitamin E for the function of the nervous system, especially of the cerebellum. Therefore, we studied the concentrations of vitamin E in the blood plasma and red blood cells of patients with a hereditary form of olivopontocerebellar ataxia. The concentrations of alpha tocopherol (the principal biologically-active form of vitamin E) in the plasma and red cells of the ataxic subjects were significantly lower than those of unaffected, close relatives as well as unrelated control subjects. Total lipids, cholesterol, triglycerides and lipoproteins in the serum of the ataxia group were all within normal range. The results suggest that this specific type of familial ataxia is associated with a rare and isolated abnormality in vitamin E and/or antioxidant metabolism. The vast majority of previous reports of lower blood concentrations or deficiency of vitamin E in children or adults were also associated with deficits in the absorption of lipids or abnormalities in serum lipids and lipoproteins.