Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient

Research output: Contribution to journalArticle

Abstract

We describe a young patient affected by vitamine E deficiency with mutation in the tocopherol tranfer protein aleles and the unique presentation as myoclonic dystonia, which was practically the only symptom for 6 years before ataxia became evident. Vitamin E supplementation markedly improved both symptoms. This unusual clinical phenotype must be considered, because isolated vitamin E deficiency is eminently treatable.

Original languageEnglish
Pages (from-to)612-614
Number of pages3
JournalMovement Disorders
Volume17
Issue number3
DOIs
Publication statusPublished - May 2002

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Fingerprint Dive into the research topics of 'Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient'. Together they form a unique fingerprint.

  • Cite this