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Leigh disease

MedGen UID:
44095
•Concept ID:
C0023264
•
Disease or Syndrome
Synonyms: Disease, Leigh's; Encephalomyelitides, Subacute Necrotizing; Encephalomyelitis, Subacute Necrotizing; Encephalomyelopathies, Subacute Necrotizing; Encephalomyelopathy, Subacute Necrotizing; Encephalopathies, Subacute Necrotizing; Encephalopathy, Subacute Necrotizing; Leigh Disease; Leigh Syndrome; Leigh's Disease; Leighs Disease; Necrotizing Encephalomyelitides, Subacute; Necrotizing Encephalomyelitis, Subacute; Necrotizing Encephalomyelopathies, Subacute; Necrotizing Encephalomyelopathy, Subacute; Necrotizing Encephalopathies, Subacute; Necrotizing Encephalopathy, Subacute; Subacute Necrotizing Encephalomyelitides; Subacute Necrotizing Encephalomyelitis; Subacute Necrotizing Encephalomyelopathies; Subacute Necrotizing Encephalomyelopathy; Subacute Necrotizing Encephalopathies; Subacute Necrotizing Encephalopathy
SNOMED CT: SNEM - Subacute necrotizing encephalomyelopathy (29570005); Leigh syndrome (29570005); Leigh disease (29570005); Leighs disease (29570005); Leigh's disease (29570005); Subacute necrotizing encephalopathy (29570005); Subacute necrotizing encephalomyelopathy (29570005)
 
OMIM®: 590060; 590095

Definition

An inherited disorder affecting the nervous system, caused by genetic mutations in the mitochondrial DNA or deficiency of pyruvate dehydrogenase. Signs and symptoms appear in infancy and include loss of the motor abilities, poor sucking abilities, irritability, lack of muscle tone, and seizures. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLeigh disease

Professional guidelines

PubMed

Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options.
Thorburn DR, Dahl HH
Am J Med Genet 2001 Spring;106(1):102-14. doi: 10.1002/ajmg.1380. PMID: 11579429

Recent clinical studies

Etiology

Primary mitochondrial diseases.
Pizzamiglio C, Hanna MG, Pitceathly RDS
Handb Clin Neurol 2024;204:53-76. doi: 10.1016/B978-0-323-99209-1.00004-1. PMID: 39322395
Cannabidiol ameliorates mitochondrial disease via PPARγ activation in preclinical models.
Puighermanal E, Luna-Sánchez M, Gella A, van der Walt G, Urpi A, Royo M, Tena-Morraja P, Appiah I, de Donato MH, Menardy F, Bianchi P, Esteve-Codina A, Rodríguez-Pascau L, Vergara C, Gómez-Pallarès M, Marsicano G, Bellocchio L, Martinell M, Sanz E, Jurado S, Soriano FX, Pizcueta P, Quintana A
Nat Commun 2024 Sep 4;15(1):7730. doi: 10.1038/s41467-024-51884-8. PMID: 39231983Free PMC Article
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.
McCormick EM, Keller K, Taylor JP, Coffey AJ, Shen L, Krotoski D, Harding B; NICHD ClinGen U24 Mitochondrial Disease Gene Curation Expert Panel, Gai X, Falk MJ, Zolkipli-Cunningham Z, Rahman S
Ann Neurol 2023 Oct;94(4):696-712. Epub 2023 Aug 12 doi: 10.1002/ana.26716. PMID: 37255483Free PMC Article
Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.
van de Wal MAE, Adjobo-Hermans MJW, Keijer J, Schirris TJJ, Homberg JR, Wieckowski MR, Grefte S, van Schothorst EM, van Karnebeek C, Quintana A, Koopman WJH
Brain 2022 Mar 29;145(1):45-63. doi: 10.1093/brain/awab426. PMID: 34849584Free PMC Article
Nuclear gene defects in mitochondrial disorders.
Zeviani M, Corona P, Nijtmans L, Tiranti V
Ital J Neurol Sci 1999 Dec;20(6):401-8. doi: 10.1007/s100720050059. PMID: 10937860

Diagnosis

Leigh syndrome.
Rahman S
Handb Clin Neurol 2023;194:43-63. doi: 10.1016/B978-0-12-821751-1.00015-4. PMID: 36813320
MEGDEL Syndrome.
Finsterer J, Scorza FA, Fiorini AC, Scorza CA
Pediatr Neurol 2020 Sep;110:25-29. Epub 2020 Jul 16 doi: 10.1016/j.pediatrneurol.2020.03.009. PMID: 32684373
Leigh syndrome: One disorder, more than 75 monogenic causes.
Lake NJ, Compton AG, Rahman S, Thorburn DR
Ann Neurol 2016 Feb;79(2):190-203. Epub 2015 Dec 15 doi: 10.1002/ana.24551. PMID: 26506407
A guide to diagnosis and treatment of Leigh syndrome.
Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F
J Neurol Neurosurg Psychiatry 2014 Mar;85(3):257-65. Epub 2013 Jun 14 doi: 10.1136/jnnp-2012-304426. PMID: 23772060
Mitochondrial disorders.
Edmond JC
Int Ophthalmol Clin 2009 Summer;49(3):27-33. doi: 10.1097/IIO.0b013e3181a8de58. PMID: 19584620

Therapy

Cannabidiol ameliorates mitochondrial disease via PPARγ activation in preclinical models.
Puighermanal E, Luna-Sánchez M, Gella A, van der Walt G, Urpi A, Royo M, Tena-Morraja P, Appiah I, de Donato MH, Menardy F, Bianchi P, Esteve-Codina A, Rodríguez-Pascau L, Vergara C, Gómez-Pallarès M, Marsicano G, Bellocchio L, Martinell M, Sanz E, Jurado S, Soriano FX, Pizcueta P, Quintana A
Nat Commun 2024 Sep 4;15(1):7730. doi: 10.1038/s41467-024-51884-8. PMID: 39231983Free PMC Article
Orbital rhabdomyosarcoma in a child with Leigh syndrome.
Li A, Blandford A, Chundury RV, Traboulsi EI, Anderson P, Murphy E, Parikh S, Perry J
J AAPOS 2018 Apr;22(2):150-152.e1. Epub 2017 Dec 20 doi: 10.1016/j.jaapos.2017.09.006. PMID: 29274371
Hypoxia as a therapy for mitochondrial disease.
Jain IH, Zazzeron L, Goli R, Alexa K, Schatzman-Bone S, Dhillon H, Goldberger O, Peng J, Shalem O, Sanjana NE, Zhang F, Goessling W, Zapol WM, Mootha VK
Science 2016 Apr 1;352(6281):54-61. Epub 2016 Feb 25 doi: 10.1126/science.aad9642. PMID: 26917594Free PMC Article
Reproductive medicine: The power of three.
Callaway E
Nature 2014 May 22;509(7501):414-7. doi: 10.1038/509414a. PMID: 24848045
Clinical chemistry of thiamin.
Davis RE, Icke GC
Adv Clin Chem 1983;23:93-140. doi: 10.1016/s0065-2423(08)60399-6. PMID: 6398618

Prognosis

Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.
Stenton SL, Zou Y, Cheng H, Liu Z, Wang J, Shen D, Jin H, Ding C, Tang X, Sun S, Han H, Ma Y, Zhang W, Jin R, Wang H, Sun D, Lv JL, Prokisch H, Fang F
Ann Neurol 2022 Apr;91(4):466-482. Epub 2022 Mar 6 doi: 10.1002/ana.26313. PMID: 35094435
Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.
van de Wal MAE, Adjobo-Hermans MJW, Keijer J, Schirris TJJ, Homberg JR, Wieckowski MR, Grefte S, van Schothorst EM, van Karnebeek C, Quintana A, Koopman WJH
Brain 2022 Mar 29;145(1):45-63. doi: 10.1093/brain/awab426. PMID: 34849584Free PMC Article
A guide to diagnosis and treatment of Leigh syndrome.
Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F
J Neurol Neurosurg Psychiatry 2014 Mar;85(3):257-65. Epub 2013 Jun 14 doi: 10.1136/jnnp-2012-304426. PMID: 23772060
A mitochondrial protein compendium elucidates complex I disease biology.
Pagliarini DJ, Calvo SE, Chang B, Sheth SA, Vafai SB, Ong SE, Walford GA, Sugiana C, Boneh A, Chen WK, Hill DE, Vidal M, Evans JG, Thorburn DR, Carr SA, Mootha VK
Cell 2008 Jul 11;134(1):112-23. doi: 10.1016/j.cell.2008.06.016. PMID: 18614015Free PMC Article
The hereditary ataxias.
Skre H, Haugstad TS, Berg K
Prog Med Genet 1985;6:123-240. PMID: 2425393

Clinical prediction guides

Primary cilia formation requires the Leigh syndrome-associated mitochondrial protein NDUFAF2.
Lo CH, Liu Z, Chen S, Lin F, Berneshawi AR, Yu CQ, Koo EB, Kowal TJ, Ning K, Hu Y, Wang WJ, Liao YJ, Sun Y
J Clin Invest 2024 Jul 1;134(13) doi: 10.1172/JCI175560. PMID: 38949024Free PMC Article
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.
Stenton SL, Zou Y, Cheng H, Liu Z, Wang J, Shen D, Jin H, Ding C, Tang X, Sun S, Han H, Ma Y, Zhang W, Jin R, Wang H, Sun D, Lv JL, Prokisch H, Fang F
Ann Neurol 2022 Apr;91(4):466-482. Epub 2022 Mar 6 doi: 10.1002/ana.26313. PMID: 35094435
A guide to diagnosis and treatment of Leigh syndrome.
Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F
J Neurol Neurosurg Psychiatry 2014 Mar;85(3):257-65. Epub 2013 Jun 14 doi: 10.1136/jnnp-2012-304426. PMID: 23772060
A mitochondrial protein compendium elucidates complex I disease biology.
Pagliarini DJ, Calvo SE, Chang B, Sheth SA, Vafai SB, Ong SE, Walford GA, Sugiana C, Boneh A, Chen WK, Hill DE, Vidal M, Evans JG, Thorburn DR, Carr SA, Mootha VK
Cell 2008 Jul 11;134(1):112-23. doi: 10.1016/j.cell.2008.06.016. PMID: 18614015Free PMC Article
Infantile mitochondrial disorders.
Carrozzo R, Piemonte F, Tessa A, Lucioli S, Rizza T, Meschini MC, Fattori F, Santorelli FM
Biosci Rep 2007 Jun;27(1-3):105-12. doi: 10.1007/s10540-007-9039-y. PMID: 17486440

Recent systematic reviews

Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome.
Finsterer J
J Clin Neuromuscul Dis 2023 Mar 1;24(3):140-146. doi: 10.1097/CND.0000000000000422. PMID: 36809201
Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a 'Treatabolome'.
Tiet MY, Lin Z, Gao F, Jennings MJ, Horvath R
J Neuromuscul Dis 2021;8(6):885-897. doi: 10.3233/JND-210715. PMID: 34308912Free PMC Article
A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations.
Chang X, Wu Y, Zhou J, Meng H, Zhang W, Guo J
Medicine (Baltimore) 2020 Jan;99(5):e18634. doi: 10.1097/MD.0000000000018634. PMID: 32000367Free PMC Article

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