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

J Neurol Sci. 2003 Oct 15;214(1-2):17-20. doi: 10.1016/s0022-510x(03)00168-0.

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.

Publication types

  • Case Reports

MeSH terms

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

Substances

  • DNA, Mitochondrial
  • Lactic Acid
  • RNA, Transfer