Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C

Mitochondrion. 2010 Aug;10(5):567-72. doi: 10.1016/j.mito.2010.05.006. Epub 2010 May 27.


The most common mitochondrial DNA (mtDNA) mutations giving rise to Leigh syndrome reside in the MTATP6 gene. We report a rare mutation, m. 9185 T>C that gives rise to a progressive, but episodic pattern of neurological impairment with partial recovery. Disease progression corresponded to febrile viral illness and nuclear magnetic resonance imaging (MRI) changes. The patient displayed nearly 100% homoplasmy, while his asymptomatic mother was 30%. Phenotypically, exacerbations of muscle weakness with endurance intolerance, dysarthric speech, ataxia, and eyelid ptosis accompanied febrile viral illness. This case demonstrates an episodic pattern of febrile illness-induced disease exacerbation with corresponding MRI changes.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / diagnostic imaging
  • Child, Preschool
  • Disease Progression
  • Fever / complications*
  • Humans
  • Leigh Disease / genetics*
  • Leigh Disease / pathology*
  • Magnetic Resonance Imaging
  • Male
  • Mitochondrial Proton-Translocating ATPases / genetics*
  • Point Mutation*
  • Radiography
  • Virus Diseases / complications*


  • MT-ATP6 protein, human
  • Mitochondrial Proton-Translocating ATPases