抄録
I found the new disease 'familial ataxia with idiopathic vitamin E deficiency (AVED)' without fat malabsorption. I identified the causative gene : α-tocopherol transfer protein (αTTP). By impairing αTTP function in the liver, α-tocopherol cannot be transferred to VLDL, resulting in low concentration of serum vitamin E. l establish the disease entity and made clear the clinical picture of posterior column ataxia and retinitis pigmentosa. Furthermore, by investigating αTTP knockout mouse, I clarify the mechanism of vitamin E deficiency and neuronal degeneration. In this disease, almost symptoms can be prevented to progress by vitamin E supplementation.
