Friedreich-like ataxia with retintis pigmentosa caused by the His101Gln mutation of the α-tocopherol transfer protein gene

Takanori Yokota, Toshiaki Shiojiri, Takanari Gotoda, Makoto Arita, Hiroyuki Arai, Tatsuhide Ohga, Takashi Kanda, Junichi Suzuki, Tomihiro Imai, Hiroyuki Matsumoto, Seiyo Harino, Motohiro Kiyosawa, Hidehiro Mizusawa, Keizo Inoue

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126 Citations (Scopus)


The α-tocopherol transfer protein (α-TTP) is a cytosolic liver protein that is presumed to function in the intracellular transport of α-tocopherol, the most biologically active form of vitamin E. We studied 4 unrelated patients with autosomal recessive Friedreich-like ataxia who had isolated vitamin E deficiency. A point mutation was identified in all of them at position 101 of the gene for α-TTP, where histidine (CAT) was replaced with glutamine (CAG). Three of the 4 patients developed retinitis pigmentosa subsequent to the onset of ataxia. Neurological symptoms included ataxia, dysarthria, hyporeflexia, and decreased proprioceptive and vibratory sensations. Electrophysiological and pathological examinations showed that the cardinal sites affected were the central axons of dorsal root ganglion cells and the retina, with minor involvement of the peripheral sensory nerve, optic nerve, and pyramidal tract. The vitamin E tolerance test performed showed that the absorption of vitamin E was normal but that its decrease from the serum was accelerated. Oral administration of vitamin E appeared to halt the progression of visual and neurological symptoms. We propose a new treatable syndrome of Friedreich-like ataxia and retinitis pigmentosa caused by a defect in the α-TTP gene.

Original languageEnglish
Pages (from-to)826-832
Number of pages7
JournalAnnals of Neurology
Issue number6
Publication statusPublished - 1997 Jun
Externally publishedYes

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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