A guide to diagnosis and treatment of Leigh syndrome

@article{Baertling2013AGT,
  title={A guide to diagnosis and treatment of Leigh syndrome},
  author={F. Baertling and R. Rodenburg and J. Schaper and J. Smeitink and W. Koopman and E. Mayatepek and E. Morava and F. Distelmaier},
  journal={Journal of Neurology, Neurosurgery & Psychiatry},
  year={2013},
  volume={85},
  pages={257 - 265}
}
Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy or early childhood. However, also late-onset cases have been reported. Since its first description by Denis Archibald Leigh in 1951, it has evolved from a postmortem diagnosis, strictly defined by histopathological observations, to a clinical entity with indicative laboratory and radiological findings. Hallmarks of the disease are symmetrical lesions in the basal ganglia or brain stem on MRI, and a… Expand
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References

SHOWING 1-10 OF 102 REFERENCES
Leigh and Leigh-like syndrome in children and adults.
  • 281
Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.
  • 18
Adult Leigh syndrome with mitochondrial DNA mutation at 8993
  • 32
MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome.
  • 47
...
1
2
3
4
5
...