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Diseases

Genetic and Rare Diseases Information Center (GARD)

Leigh syndrome


Other Names for this Disease
  • LS
  • Subacute necrotizing encephalopathy
  • SNE
  • Necrotizing encephalopathy infantile subacute of Leigh
  • Leigh's necrotizing encephalopathy
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Inheritance

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How is Leigh syndrome inherited?

The inheritance pattern for Leigh syndrome varies depending on the specific mutation causing the disease in the individual. These mutations can be inherited as an autosomal recessive trait, an X-linked recessive trait, or as a mutation found within the mitochondrial DNA. In some cases of Leigh syndrome, no genetic cause can be identified.[1]

The autosomal recessive form of Leigh syndrome has been linked to mutations in one of several different genes. These genes cause specific enzyme deficiencies. All of these different genetic defects seem to have a common effect on the central nervous system, resulting in progressive neurological deterioration.[1] 

In some cases, Leigh syndrome may be inherited from the mother as a mutation found within the mitochondrial DNA (mtDNA). Mitochondria regulate the production of cellular energy and carry the genetic blueprints for this process within their own unique DNA. All human mtDNA comes from the mother. An affected mother will pass the disease to all of her children (sons and daughters), but only the daughters will pass the mutation(s) to the next generation. These cases are sometimes referred to as maternally inherited Leigh syndrome (MILS).[1]
Last updated: 3/3/2016

References
  1. Leigh's disease. National Organization for Rare Disorders (NORD). 2009; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/392/viewAbstract. Accessed 10/6/2011.


Other Names for this Disease
  • LS
  • Subacute necrotizing encephalopathy
  • SNE
  • Necrotizing encephalopathy infantile subacute of Leigh
  • Leigh's necrotizing encephalopathy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.