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Leigh Disease

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Encyclopedia of Autism Spectrum Disorders

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Synonyms

Infantile subacute necrotizing encephalopathy; Juvenile subacute necrotizing encephalopathy; Leigh necrotizing encephalopathy; Leigh syndrome; Leigh’s disease; SNE; Subacute necrotizing encephalomyelopathy; Subacute necrotizing encephalopathy

Definition

Leigh disease is a rare neurometabolic disorder characterized by a progressive loss of motor and cognitive abilities. It is estimated to affect 1 in 40,000 newborns, with a higher prevalence in Quebec, Canada (approximately 1 in 2000 newborns) and on the Faroe Islands (approximately 1 in 1700 newborns). The onset of symptoms typically occurs during infancy; although in rare cases, onset occurs during adolescence or adulthood.

The first noticeable signs for Leigh disease are gastrointestinal symptoms (e.g., nausea and recurrent vomiting and diarrhea) and failure to thrive. Additionally, affected individuals may develop severe movement difficulties and experience motor regressions. Symptoms may include: difficulty swallowing...

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References and Reading

  • Dhillon, S., A Hellings, J., & G Butler, M. (2011). Genetics and mitochondrial abnormalities in autism spectrum disorders: a review. Current Genomics, 12, 322–332.

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  • Finsterer, J. (2008). Leigh and Leigh-like syndrome in children and adults. Pediatric Neurology, 39, 223–235.

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  • Lake, N. J., Compton, A. G., Rahman, S., & Thorburn, D. R. (2016). Leigh syndrome: one disorder, more than 75 monogenic causes. Annals of Neurology, 79, 190–203.

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  • Tiranti, V., Hoertnagel, K., Carrozzo, R., Galimberti, C., Munaro, M., Granatiero, & Bayona-Bafaluy, M. P. (1998). Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. The American Journal of Human Genetics, 63, 1609–1621.

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Author information

Authors and Affiliations

  1. Yale Child Study Center, New Haven, CT, USA

    Anamiguel Pomales-Ramos

Authors
  1. Anamiguel Pomales-Ramos
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Correspondence to Anamiguel Pomales-Ramos .

Editor information

Editors and Affiliations

  1. Yale Child Study Center, New Haven, CT, USA

    Fred R. Volkmar

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Pomales-Ramos, A. (2018). Leigh Disease. In: Volkmar, F. (eds) Encyclopedia of Autism Spectrum Disorders. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6435-8_102083-1

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  • DOI: https://doi.org/10.1007/978-1-4614-6435-8_102083-1

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-6435-8

  • Online ISBN: 978-1-4614-6435-8

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