Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency

J Pediatr. 1999 Feb;134(2):240-4. doi: 10.1016/s0022-3476(99)70424-5.


Dysfunction of the alpha-tocopherol transfer protein causes ataxia with isolated vitamin E deficiency. A 14-year-old male patient presented with ataxia and mental symptoms caused by a homozygous (552G-->A) alpha-tocopherol transfer protein mutation. After initiation of high-dosage alpha-tocopherol therapy, the organic mental syndrome disappeared and cognitive function improved rapidly. Neurologic recovery, however, was slow and incomplete.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Ataxia / drug therapy
  • Ataxia / etiology*
  • Carrier Proteins / genetics*
  • DNA / analysis
  • Humans
  • Male
  • Mutation
  • Vitamin E / therapeutic use
  • Vitamin E Deficiency / complications*
  • Vitamin E Deficiency / drug therapy
  • Vitamin E Deficiency / genetics


  • Carrier Proteins
  • alpha-tocopherol transfer protein
  • Vitamin E
  • DNA