Ataxia with vitamin E deficiency and severe dystonia: report of a case

Brain Dev. 2003 Sep;25(6):442-5. doi: 10.1016/s0387-7604(03)00054-8.

Abstract

Mutation of the gene for alpha-tocopherol transfer protein causes ataxia with isolated vitamin E deficiency, a disorder usually stabilized or improved after vitamin E supplementation. Dystonia has rarely been described in ataxia with isolated vitamin E deficiency (AVED) patients. We present the case of a young boy with AVED, whose neurological and extra-neurological cardinal symptoms of the disease improved after vitamin E supplementation but who progressively developed generalized dystonia.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Ataxia / etiology
  • Ataxia / genetics
  • Carrier Proteins / genetics
  • Child
  • Dystonia / etiology*
  • Evoked Potentials, Somatosensory / physiology
  • Humans
  • Male
  • Mutation
  • Prodrugs / therapeutic use
  • Tocopherols
  • Vitamin E / blood
  • Vitamin E Deficiency / complications*
  • Vitamin E Deficiency / drug therapy
  • Vitamin E Deficiency / genetics
  • Vitamin E Deficiency / physiopathology
  • alpha-Tocopherol / analogs & derivatives*
  • alpha-Tocopherol / therapeutic use

Substances

  • Carrier Proteins
  • Prodrugs
  • alpha-tocopherol transfer protein
  • Vitamin E
  • alpha-Tocopherol
  • Tocopherols