Ataxia with isolated vitamin E deficiency: a Japanese family carrying a novel mutation in the alpha-tocopherol transfer protein gene

Ann Neurol. 1999 Jun;45(6):809-12. doi: 10.1002/1531-8249(199906)45:6<809::aid-ana19>;2-9.


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 alpha-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 alpha-tocopherol concentrations were remarkably reduced. Relations between the mutations and clinical features are discussed.

MeSH terms

  • Adult
  • Ataxia / genetics*
  • Carrier Proteins / genetics*
  • Female
  • Humans
  • Japan
  • Male
  • Mutation / genetics
  • Pedigree
  • Polymerase Chain Reaction
  • Vitamin E Deficiency / genetics*


  • Carrier Proteins
  • alpha-tocopherol transfer protein