Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene

Ann Neurol. 2003 Oct;54(4):527-30. doi: 10.1002/ana.10682.


We report the molecular findings in two independent patients presenting with progressive generalized dystonia and bilateral striatal necrosis in whom we have identified a mutation (T14487C) in the mitochondrial ND6 gene. The mutation is heteroplasmic in all samples analyzed, and it fulfills all accepted criteria of pathogenicity. Transmitochondrial cell lines harboring 100% mutant mitochondrial DNA showed a marked decrease in the activity of complex I of the respiratory chain supporting the pathogenic role of T14487C.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Corpus Striatum / pathology*
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Dystonia / blood
  • Dystonia / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Necrosis
  • Oxygen Consumption / genetics
  • Point Mutation*
  • Time Factors
  • Transfection
  • Tumor Cells, Cultured


  • DNA, Mitochondrial