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Leigh syndrome

Other Names for this Disease
  • Leigh's disease
  • Leigh's necrotizing encephalopathy
  • LS
  • Necrotizing encephalopathy infantile subacute of Leigh
  • SNE
More Names
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What is Leigh syndrome?

How is Leigh syndrome inherited?

What is Leigh syndrome?

Leigh syndrome is a rare inherited degenerative neurological condition that affects the central nervous system. It usually begins in infants between the ages of three months and two years. Rarely, it occurs in teenagers and adults. Signs and symptoms usually progress rapidly. The earliest signs may be poor sucking ability, and the loss of head control and motor skills. These symptoms may be accompanied by loss of appetite, vomiting, irritability, continuous crying, and seizures. As the disorder progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function. There are several different gene mutations that can cause this condition. Leigh syndrome can be caused by mutations in mitochondrial DNA or nuclear DNA.[1]
Last updated: 10/5/2011

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.[2]

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.[2] 

There is also evidence for an X-linked recessive form of Leigh's disease. This form has been linked to a specific genetic defect in a gene known as PDHA1 (E1-alpha subunit of the pyruvate dehydrogenase complex) that is located on the X chromosome.[2]

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 traits to all of her children, but only the daughters will pass the mutation(s) onto the next generation. The specific mtDNA defect that may be responsible for some cases of Leigh syndrome is associated with a gene known as MT-ATP6. These cases are sometimes referred to as maternally inherited Leigh syndrome (MILS).[2]
Last updated: 10/6/2011

  1. Leigh's Disease Information Page. National Institute of Neurological Disorders and Stroke. October 2008; Accessed 10/5/2011.
  2. Leigh's disease. National Organization for Rare Disorders (NORD). 2009; Accessed 10/6/2011.