Ataxia with isolated vitamin E deficiency: A Japanese family carrying a novel mutation in the α-tocopherol transfer protein gene
Masataka Hoshino MD
Department of Neurology, Division of Neuroscience, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
Search for more papers by this authorNaoki Masuda MD, PhD
Department of Neurology, Division of Neuroscience, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
Search for more papers by this authorYasuhiko Ito MD
Department of Neurology, Division of Neuroscience, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
Search for more papers by this authorMiho Murata MD, PhD
Department of Neurology, Division of Neuroscience, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
Search for more papers by this authorCorresponding Author
Jun Goto MD, PhD
Department of Neurology, Division of Neuroscience, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
Department of Neurology, Division of Neuroscience, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, JapanSearch for more papers by this authorMasaki Sakurai MD, PhD
Department of Neurology, Division of Neuroscience, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
Search for more papers by this authorIchiro Kanazawa MD, PhD
Department of Neurology, Division of Neuroscience, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
Search for more papers by this authorMasataka Hoshino MD
Department of Neurology, Division of Neuroscience, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
Search for more papers by this authorNaoki Masuda MD, PhD
Department of Neurology, Division of Neuroscience, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
Search for more papers by this authorYasuhiko Ito MD
Department of Neurology, Division of Neuroscience, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
Search for more papers by this authorMiho Murata MD, PhD
Department of Neurology, Division of Neuroscience, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
Search for more papers by this authorCorresponding Author
Jun Goto MD, PhD
Department of Neurology, Division of Neuroscience, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
Department of Neurology, Division of Neuroscience, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, JapanSearch for more papers by this authorMasaki Sakurai MD, PhD
Department of Neurology, Division of Neuroscience, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
Search for more papers by this authorIchiro Kanazawa MD, PhD
Department of Neurology, Division of Neuroscience, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
Search for more papers by this authorAbstract
We report a Japanese family with ataxia with isolated vitamin E deficiency (AVED). Gene analysis revealed a single nucleotide substitution of T to C at nucleotide position 2 in the α-tocopherol transfer protein gene (TTPA). This substitution abolishes the start codon. The proband and his affected sister were homozygous for this mutation, and their serum α-tocopherol concentrations were remarkably reduced. Relations between the mutations and clinical features are discussed. Ann Neurol 1999;45:809–812
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