Dominant optic atrophy, neuropathy, ataxia, white matter FLAIR hypersignals, middle cerebellar peduncule atrophy and asthenia in OPA1 mutation

Eur Neurol. 2012;67(5):287. doi: 10.1159/000336743. Epub 2012 Apr 3.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Asthenia / complications
  • Asthenia / genetics*
  • Cerebellar Ataxia / complications
  • Cerebellar Ataxia / genetics*
  • Fluorescein Angiography
  • GTP Phosphohydrolases / genetics*
  • Humans
  • Leukoencephalopathies / complications
  • Leukoencephalopathies / genetics*
  • Magnetic Resonance Imaging
  • Mutation / genetics*
  • Optic Atrophy, Autosomal Dominant / complications
  • Optic Atrophy, Autosomal Dominant / genetics*
  • Optic Atrophy, Autosomal Dominant / pathology

Substances

  • GTP Phosphohydrolases
  • OPA1 protein, human