Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene

Pediatr Neurol. 1995 Oct;13(3):242-6. doi: 10.1016/0887-8994(95)00184-h.


A 2.5-year-old boy with bilateral striatal lesions is reported. Using polymerase chain reaction-single-strand conformation polymorphism analysis and direct DNA sequencing, a novel point mutation (T to C) at nucleotide 8851 of the mitochondrial DNA (mtDNA) was identified. This mutation changes a highly conserved tryptophan to arginine in subunit 6 of the mtATPase gene. The mutation was nearly homoplasmic and maternally inherited. This is the first published report of a mutation in the mtDNA in bilateral striatal degeneration. It is possible that other cases of bilateral striatal degeneration have been caused by mutations in the mtATPase 6 gene or genes encoding other subunits of the mtATPase; and therefore the mtATPase genes should be examined in children with this condition.

Publication types

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

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Athetosis / genetics*
  • Athetosis / pathology*
  • Base Sequence
  • Child, Preschool
  • Chorea / genetics*
  • Chorea / pathology*
  • Corpus Striatum / pathology*
  • Corpus Striatum / ultrastructure
  • DNA, Mitochondrial / genetics
  • Female
  • Humans
  • Male
  • Mitochondria / enzymology
  • Mitochondria / genetics*
  • Molecular Sequence Data
  • Necrosis
  • Pedigree
  • Point Mutation*


  • DNA, Mitochondrial
  • Adenosine Triphosphatases