[Friedreich's ataxia and hereditary vitamin E deficiency. Case study]

Rev Neurol (Paris). 1998 May;154(4):339-41.
[Article in French]


A 24-year-old patient, born from consanguineous parents, consulted for cerebellar syndrome, ataxia, loss of proprioception, bilateral Babinski sign and lower limbs areflexia. No mutation on Friedreich's ataxia gene was found. Plasmatic vitamin E level was extremely low. Point mutation on gene coding for alpha-tocopherol transfer protein (alpha-TTP) confirmed the diagnosis of familial isolated vitamin E deficiency (AVED). Vitamin E therapy restored normal serum levels and neurological symptoms were stabilized.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adult
  • Carrier Proteins / genetics*
  • Consanguinity
  • Electromyography
  • Female
  • Friedreich Ataxia / complications
  • Friedreich Ataxia / genetics*
  • Friedreich Ataxia / physiopathology
  • Humans
  • Male
  • Pedigree
  • Point Mutation
  • Vitamin E / blood
  • Vitamin E Deficiency / complications
  • Vitamin E Deficiency / genetics*
  • Vitamin E Deficiency / physiopathology


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