Leigh Syndrome

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Xu, C. Leigh Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4509 (accessed on 25 September 2026).

Xu C. Leigh Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4509. Accessed September 25, 2026.

Xu, Camila. "Leigh Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4509 (accessed September 25, 2026).

Xu, C. (2020, December 23). Leigh Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4509

Xu, Camila. "Leigh Syndrome." Encyclopedia. Web. 23 December, 2020.

Leigh Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/leigh-syndrome

Leigh syndrome is a severe neurological disorder that usually becomes apparent in the first year of life.

genetic conditions

References

Finsterer J. Leigh and Leigh-like syndrome in children and adults. PediatrNeurol. 2008 Oct;39(4):223-35. doi: 10.1016/j.pediatrneurol.2008.07.013. Review.
Lake NJ, Compton AG, Rahman S, Thorburn DR. Leigh syndrome: One disorder, morethan 75 monogenic causes. Ann Neurol. 2016 Feb;79(2):190-203. doi:10.1002/ana.24551.
Pecina P, Capková M, Chowdhury SK, Drahota Z, Dubot A, Vojtísková A, HansíkováH, Houst'ková H, Zeman J, Godinot C, Houstek J. Functional alteration ofcytochrome c oxidase by SURF1 mutations in Leigh syndrome. Biochim Biophys Acta. 2003 Sep 1;1639(1):53-63.
Péquignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, Sue C, Di MauroS, Abitbol M, Marsac C. Mutations in the SURF1 gene associated with Leighsyndrome and cytochrome C oxidase deficiency. Hum Mutat. 2001 May;17(5):374-81.
Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J,Thorburn DR. Leigh syndrome: clinical features and biochemical and DNAabnormalities. Ann Neurol. 1996 Mar;39(3):343-51.
Rahman S, Thorburn D. Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview.2015 Oct 1 [updated 2020 Jul 16]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE,Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK320989/
Sgarbi G, Baracca A, Lenaz G, Valentino LM, Carelli V, Solaini G. Inefficient coupling between proton transport and ATP synthesis may be the pathogenicmechanism for NARP and Leigh syndrome resulting from the T8993G mutation inmtDNA. Biochem J. 2006 May 1;395(3):493-500.
Thorburn DR, Rahman J, Rahman S. Mitochondrial DNA-Associated Leigh Syndromeand NARP. 2003 Oct 30 [updated 2017 Sep 28]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet].Seattle (WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1173/
Uziel G, Moroni I, Lamantea E, Fratta GM, Ciceri E, Carrara F, Zeviani M.Mitochondrial disease associated with the T8993G mutation of the mitochondrialATPase 6 gene: a clinical, biochemical, and molecular study in six families. JNeurol Neurosurg Psychiatry. 1997 Jul;63(1):16-22.
Yao J, Shoubridge EA. Expression and functional analysis of SURF1 in Leighsyndrome patients with cytochrome c oxidase deficiency. Hum Mol Genet. 1999Dec;8(13):2541-9.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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