A case of ovarioleukodystrophy without eIF2B mutations

Carmen Gaudiano, Carol Di Perri, Ornella Scali, Alessandra Rufa, Carla Battisti, Nicola De Stefano, Antonio Federico

Research output: Contribution to journalArticlepeer-review

Abstract

A new association of Vanishing White Matter (VWM) and premature ovarian failure (POF) was recently described as a sole entity called ovarioleukodystrophy. Seven out of eight patients reported by Fogli et al. had translation initiation factor (eIF2B) mutations, specific to the VWM. The only patient without mutations had a distinctive neurological presentation that included cognitive deterioration without motor signs and white matter abnormalities restricted to the frontal lobe. We describe here a case suggestive of ovarioleukodistrophy carrying no eIF2B mutations.

Original languageEnglish
Pages (from-to)183-186
Number of pages4
JournalJournal of the Neurological Sciences
Volume268
Issue number1-2
DOIs
Publication statusPublished - May 15 2008

Keywords

  • eIF2B mutations
  • Genetic heterogeneity
  • Ovarioleukodystrophy

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Surgery
  • Developmental Neuroscience
  • Neurology
  • Neuroscience(all)

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