A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study

Ann Neurol. 1995 Mar;37(3):400-3. doi: 10.1002/ana.410370317.


A novel mitochondrial DNA transfer RNA mutation at position 5549 was identified in a patient with dementia, chorea, cerebellar ataxia, deafness, and peripheral neuropathy in the absence of clinical myopathy. Muscle biopsy specimens showed ragged red and cytochrome oxidase-negative fibers, and reduced complex I activity on polarography. There was diffuse neuronal loss and gliosis throughout the brain on postmortem examination. The heteroplasmic mutation had a widespread distribution in autopsy tissues.

Publication types

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

MeSH terms

  • Adult
  • Biopsy
  • Brain / pathology
  • Cerebellar Ataxia / genetics*
  • Cerebellar Ataxia / pathology
  • Chorea / genetics*
  • Chorea / pathology
  • DNA, Mitochondrial / analysis*
  • Deafness / genetics*
  • Dementia / genetics*
  • Dementia / pathology
  • Fatal Outcome
  • Humans
  • Male
  • Muscle, Skeletal / pathology
  • Peripheral Nervous System Diseases / genetics*
  • Peripheral Nervous System Diseases / pathology
  • Point Mutation
  • Syndrome


  • DNA, Mitochondrial