Clinical and neuropathological findings in patients with TACO1 mutations

Neuromuscul Disord. 2010 Nov;20(11):720-4. doi: 10.1016/j.nmd.2010.06.017. Epub 2010 Aug 19.


We have recently identified mutations in the translation activator of cytochrome c oxidase 1 (TACO1) gene, leading to cytochrome c oxidase (COX) deficiency. Here, we report the clinical and neuroimaging findings of five members of a big consanguinous family homozygous for c.472insC in TACO1. All 5 patients had an uneventful early childhood and a subtle onset, slowly progressive cognitive dysfunction, dystonia or visual impairment between ages 4 and 16years. Affected girls had a milder phenotype and preserved ambulation into the late twenties. Brain MRI revealed bilateral, symmetric lesions of the basal ganglia in all affected family members, but less prominent in girls. TACO1 analysis showed no mutations in 17 patients with juvenile-onset Leigh syndrome and isolated COX or combined respiratory chain deficiency, indicating that TACO1 mutations are a rare cause of Leigh syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Basal Ganglia / pathology*
  • Child
  • Cognition Disorders / enzymology
  • Cognition Disorders / genetics*
  • Cognition Disorders / pathology
  • Cytochrome-c Oxidase Deficiency / enzymology
  • Cytochrome-c Oxidase Deficiency / genetics*
  • Cytochrome-c Oxidase Deficiency / pathology
  • Electron Transport Complex IV / genetics
  • Electron Transport Complex IV / metabolism
  • Female
  • Humans
  • Leigh Disease / genetics
  • Leigh Disease / pathology
  • Magnetic Resonance Imaging
  • Male
  • Microfilament Proteins / genetics*
  • Microfilament Proteins / metabolism
  • Muscle, Skeletal / enzymology
  • Muscle, Skeletal / pathology*
  • Phenotype
  • Sex Factors


  • Microfilament Proteins
  • coronin proteins
  • Electron Transport Complex IV