Adult-Onset Spinocerebellar Dysfunction Caused by a Mutation in the Gene for the α-Tocopherol–Transfer Protein

Abstract excerpt

BACKGROUND: Patients with isolated vitamin E deficiency have an impaired ability to incorporate alpha-tocopherol into lipoproteins in the liver and usually have symptoms and signs of spinocerebellar dysfunction before adolescence. Accumulated evidence suggests that the alpha-tocopherol-transfer protein, which is presumed to function in the intracellular transport of alpha-tocopherol, is abnormal in these...

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