Adult onset Leigh syndrome with mitochondrial DNA 8344 A>G mutation

J Clin Neurosci. 2014 Nov;21(11):2009-11. doi: 10.1016/j.jocn.2014.03.020. Epub 2014 Jun 21.

Abstract

We report a pedigree of adult-onset Leigh syndrome (LS) with mitochondrial mutation 8344 A>G. A 38-year-old woman presented with optic neuropathy, weakness and cognitive impairment. Family history of optic neuropathy and systemic involvement was suggestive of mitochondrial encephalopathy. Genetic and radiologic studies showed m.8344 A>G mutation with characteristics of LS. To our knowledge this is the first case of adult-onset LS demonstrating the m.8344 A>G mutation.

Keywords: Adult-onset; Leigh syndrome; Mitochondrial disorders; Mitochondrial encephalopathy; Myoclonic epilepsy and ragged red fibers.

Publication types

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

MeSH terms

  • Adenine
  • Adult
  • Age of Onset
  • Brain / pathology*
  • Cognitive Dysfunction / genetics
  • DNA, Mitochondrial / genetics*
  • Diffusion Magnetic Resonance Imaging
  • Female
  • Genetic Testing
  • Guanine
  • Humans
  • Leigh Disease / diagnosis*
  • Leigh Disease / genetics*
  • Leigh Disease / pathology
  • Memory Disorders / genetics
  • Muscle Weakness / genetics
  • Mutation*
  • Optic Atrophies, Hereditary / diagnosis*
  • Optic Atrophies, Hereditary / genetics*
  • Optic Atrophies, Hereditary / pathology
  • Pedigree*

Substances

  • DNA, Mitochondrial
  • Guanine
  • Adenine

Supplementary concepts

  • Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult