Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy

Mov Disord. 2004 Feb;19(2):235-7. doi: 10.1002/mds.10646.


The combination of optic atrophy and dystonia has been etiologically associated with mitochondrial DNA (mtDNA) mutations. We report here on the complete mtDNA sequence from the proband of a consanguineous family exhibiting "mitochondrial-like" optic atrophy and dystonia. A candidate tRNA(Gly) mutation was identified that was unique to the family. However, the mutation was homoplasmic in both affected and unaffected family members and we were unable to demonstrate a biochemical defect in patient mitochondria. Hence, it is unlikely that a mtDNA mutation accounts for the phenotype in this family.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Base Pairing / genetics
  • Caudate Nucleus / physiology
  • Child
  • Chromosomes, Human, X
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Dystonic Disorders / diagnosis
  • Dystonic Disorders / genetics*
  • Female
  • Functional Laterality / genetics
  • Genotype
  • Humans
  • Israel
  • Jews / genetics*
  • Male
  • Mitochondrial Myopathies / diagnosis
  • Mitochondrial Myopathies / genetics*
  • Optic Atrophy / diagnosis
  • Optic Atrophy / genetics*
  • Optic Atrophy, Hereditary, Leber / diagnosis
  • Optic Atrophy, Hereditary, Leber / genetics
  • Pedigree
  • Phenotype
  • Polymorphism, Restriction Fragment Length
  • Putamen / pathology
  • RNA, Transfer, Gly / genetics
  • Sequence Analysis, DNA*
  • Sex Chromosome Aberrations


  • DNA, Mitochondrial
  • RNA, Transfer, Gly