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Leigh syndrome with leukodystrophy

MedGen UID:
798630
•Concept ID:
CN202083
•
Disease or Syndrome
Synonyms: Infantile subacute necrotizing encephalopathy with leukodystrophy; Leigh disease with leukodystrophy
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Orphanet: ORPHA255241

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLeigh syndrome with leukodystrophy
Follow this link to review classifications for Leigh syndrome with leukodystrophy in Orphanet.

Recent clinical studies

Etiology

Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients.
Ardissone A, Ferrera G, Lamperti C, Tiranti V, Ghezzi D, Moroni I, Lamantea E
Eur J Neurol 2023 Jul;30(7):2079-2091. Epub 2023 Apr 25 doi: 10.1111/ene.15814. PMID: 37038312
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF; Genomics England Research Consortium
BMJ 2021 Nov 3;375:e066288. doi: 10.1136/bmj-2021-066288. PMID: 34732400Free PMC Article
Neuroimaging of mitochondrial disease.
Saneto RP, Friedman SD, Shaw DW
Mitochondrion 2008 Dec;8(5-6):396-413. Epub 2008 May 23 doi: 10.1016/j.mito.2008.05.003. PMID: 18590986Free PMC Article
Human cytochrome oxidase deficiency.
Robinson BH
Pediatr Res 2000 Nov;48(5):581-5. doi: 10.1203/00006450-200011000-00004. PMID: 11044474
Neuropathological aspects of infantile spasms.
Jellinger K
Brain Dev 1987;9(4):349-57. doi: 10.1016/s0387-7604(87)80106-7. PMID: 3324792

Diagnosis

Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients.
Ardissone A, Ferrera G, Lamperti C, Tiranti V, Ghezzi D, Moroni I, Lamantea E
Eur J Neurol 2023 Jul;30(7):2079-2091. Epub 2023 Apr 25 doi: 10.1111/ene.15814. PMID: 37038312
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF; Genomics England Research Consortium
BMJ 2021 Nov 3;375:e066288. doi: 10.1136/bmj-2021-066288. PMID: 34732400Free PMC Article
What Can Mimic Multiple Sclerosis?
Jewells VL, Latchaw RE
Semin Ultrasound CT MR 2020 Jun;41(3):284-295. Epub 2020 Feb 29 doi: 10.1053/j.sult.2020.02.003. PMID: 32448485
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He L, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW
J Med Genet 2012 Sep;49(9):569-77. doi: 10.1136/jmedgenet-2012-101146. PMID: 22972948Free PMC Article
Neuroimaging of mitochondrial disease.
Saneto RP, Friedman SD, Shaw DW
Mitochondrion 2008 Dec;8(5-6):396-413. Epub 2008 May 23 doi: 10.1016/j.mito.2008.05.003. PMID: 18590986Free PMC Article

Therapy

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF; Genomics England Research Consortium
BMJ 2021 Nov 3;375:e066288. doi: 10.1136/bmj-2021-066288. PMID: 34732400Free PMC Article
Identification of diffuse and focal brain lesions by clinical magnetic resonance spectroscopy.
Kingsley PB, Shah TC, Woldenberg R
NMR Biomed 2006 Jun;19(4):435-62. doi: 10.1002/nbm.1039. PMID: 16763970

Prognosis

NDUFV1-Related Mitochondrial Complex-1 Disorders: A Retrospective Case Series and Literature Review.
Mahesan A, Choudhary PK, Kamila G, Rohil A, Meena AK, Kumar A, Jauhari P, Chakrabarty B, Gulati S
Pediatr Neurol 2024 Jun;155:91-103. Epub 2024 Mar 6 doi: 10.1016/j.pediatrneurol.2024.02.012. PMID: 38626668
Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients.
Ardissone A, Ferrera G, Lamperti C, Tiranti V, Ghezzi D, Moroni I, Lamantea E
Eur J Neurol 2023 Jul;30(7):2079-2091. Epub 2023 Apr 25 doi: 10.1111/ene.15814. PMID: 37038312
Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency.
Tang X, Xu W, Song X, Ye H, Ren X, Yang Y, Zhang H, Wu S, Lan X
Genes Genomics 2022 Jun;44(6):691-698. Epub 2022 Apr 28 doi: 10.1007/s13258-022-01260-x. PMID: 35482246
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF; Genomics England Research Consortium
BMJ 2021 Nov 3;375:e066288. doi: 10.1136/bmj-2021-066288. PMID: 34732400Free PMC Article
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.
Hallmann K, Kudin AP, Zsurka G, Kornblum C, Reimann J, Stüve B, Waltz S, Hattingen E, Thiele H, Nürnberg P, Rüb C, Voos W, Kopatz J, Neumann H, Kunz WS
Brain 2016 Feb;139(Pt 2):338-45. Epub 2015 Dec 17 doi: 10.1093/brain/awv357. PMID: 26685157

Clinical prediction guides

NDUFV1-Related Mitochondrial Complex-1 Disorders: A Retrospective Case Series and Literature Review.
Mahesan A, Choudhary PK, Kamila G, Rohil A, Meena AK, Kumar A, Jauhari P, Chakrabarty B, Gulati S
Pediatr Neurol 2024 Jun;155:91-103. Epub 2024 Mar 6 doi: 10.1016/j.pediatrneurol.2024.02.012. PMID: 38626668
Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency.
Tang X, Xu W, Song X, Ye H, Ren X, Yang Y, Zhang H, Wu S, Lan X
Genes Genomics 2022 Jun;44(6):691-698. Epub 2022 Apr 28 doi: 10.1007/s13258-022-01260-x. PMID: 35482246
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.
Antonicka H, Leary SC, Guercin GH, Agar JN, Horvath R, Kennaway NG, Harding CO, Jaksch M, Shoubridge EA
Hum Mol Genet 2003 Oct 15;12(20):2693-702. Epub 2003 Aug 19 doi: 10.1093/hmg/ddg284. PMID: 12928484
Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.
Loeffen JL, Smeitink JA, Trijbels JM, Janssen AJ, Triepels RH, Sengers RC, van den Heuvel LP
Hum Mutat 2000;15(2):123-34. doi: 10.1002/(SICI)1098-1004(200002)15:2<123::AID-HUMU1>3.0.CO;2-P. PMID: 10649489
Neuropathological aspects of infantile spasms.
Jellinger K
Brain Dev 1987;9(4):349-57. doi: 10.1016/s0387-7604(87)80106-7. PMID: 3324792

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