Postmortem study of ataxia with retinitis pigmentosa by mutation of the α-tocopherol transfer protein gene. Issue 4 (1st April 2000)

• Record Type: Journal Article
• Authors: Yokota, T; Uchihara, T; Kumagai, J; Shiojiri, T; Pang, J J; Arita, M; Arai, H; Hayashi, M; Kiyosawa, M; Okeda, R; Mizusawa, H
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 68:Issue 4(2000)
• Page Start: 521
• Page End: 525
• Publication Date: 2000-04-01
• Subjects: ataxia -- retinitis pigmentosa -- α-tocopherol transfer protein -- vitamin E; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.68.4.521
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : A new syndrome of ataxia and retinitis pigmentosa with vitamin E deficiency caused by the missense mutation of α-tocopherol transfer protein (α-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 atrophy; severe dying back-type degeneration of the posterior column; and massive accumulation of lipofuscin in neurons including dorsal root ganglion (DRG) cells, which were almost identical to those in vitamin E deficient animals and patients with fat malabsorption. Also, mild loss of Purkinje cells was noted. Because robust expression of α-TTP was detected in the cerebellum as well as in the liver and the tissue concentration of vitamin E in the cerebellum was still low even after oral supplementation, the mild Purkinje cell loss might be related to the mutant α-TTP in the cerebellum. By contrast, in the DRG, thought to be mainly responsible for ataxia, no expression of α-TTP was detected, and the tissue concentration of vitamin E increased to normal after supplementation. It is therefore considered that oral supplementation of vitamin E should effectively counteract the progression of ataxia.