Leigh syndrome

From Ganfyd

Jump to: navigation, search

Leigh's syndrome (Leigh syndrome,LS) is characterised by:

  • Early-onset progressive neurodegeneration
  • Focal, bilateral lesions in one or more of:
    • Brainstem
    • Thalamus
    • Basal ganglia
    • Cerebellum
    • Spinal cord

It is caused by a large number of mutations in both nuclear- and mt-DNA genes involved in energy metabolism. It can also be caused by coenzyme Q10 deficiency. These genes code for mostly components of complex I but also are associated with the other complexs of the respoiratory chain, pyruvate dehydrogenase and mitochondrial tRNA. They include: