Article
Postmortem study of ataxia with retinitis pigmentosa by mutation of the alpha-tocopherol transfer protein gene.
Journal of neurology, neurosurgery, and psychiatry - 1 Apr 2000
Yokota T, Uchihara T, Kumagai J, Shiojiri T, Pang J J, Arita M, Arai H, Hayashi M, Kiyosawa M, Okeda R, Mizusawa H
Abstract excerpt
A new syndrome of ataxia and retinitis pigmentosa with vitamin E deficiency caused by the missense mutation of alpha-tocopherol transfer protein (alpha-TTP) gene was recently proposed. After studying the first postmortem case with this mutation pathologically and biochemically, whether the symptoms can be treated by supplementation of vitamin E or not is discussed. The major pathological findings were retinal...
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