Late onset of stroke-like episode associated with a 3256C-->T point mutation of mitochondrial DNA

Tina Dysgaard Jeppesen, Marianne Schwartz, Klaus Hansen, Else R Danielsen, Flemming Wibrand, John Vissing

Abstract

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) are usually associated with the common 3243A-->G mutation of mtDNA. Onset of stroke-like episodes usually occurs before age 30. We report a patient with late onset MELAS harboring a rare 3256C-->T mutation in the tRNA(Leu(UUR)) gene of mtDNA. The patient presented with a stroke-like episode at age 36. MRI showed a stroke-like lesion in the right parietooccipital brain region. Proton MR spectroscopy showed elevated lactate concentrations in the lesion (8.4 mmol/l), and in the mid-occipital region (2.3-3.2 mmol/l) that appeared normal on MRI. Further tests revealed evidence of a severe oxidative defect of muscle metabolism as well.

Original languageEnglish
JournalJournal of the Neurological Sciences
Volume214
Issue number1-2
Pages (from-to)17-20
Number of pages4
ISSN0022-510X
DOIs
Publication statusPublished - 15 Oct 2003

Keywords

  • Adult
  • Age of Onset
  • Cerebral Cortex/diagnostic imaging
  • DNA, Mitochondrial/genetics
  • Exercise Tolerance/genetics
  • Female
  • Humans
  • Lactic Acid/metabolism
  • MELAS Syndrome/diagnostic imaging
  • Magnetic Resonance Imaging
  • Magnetic Resonance Spectroscopy
  • Muscle, Skeletal/metabolism
  • Oxidative Phosphorylation
  • Point Mutation/genetics
  • RNA, Transfer/genetics
  • Radionuclide Imaging

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