Deficiency of respiratory chain complex I is a common cause of Leigh disease

Annals of Neurology

Volumn 40, Issue 1, 1996, Pages 25-30

  Morris, A A M ^a   Leonard, J V ^a   Brown, G K ^c   Bidouki, S K ^b   Bindoff, L A ^b   Woodward, C E ^d   Harding, A E ⁱ   Lake, B D ^e   Harding, B N ^e   Farrell, M A ^f   Bell, J E ^g   Mirakhur, M ^h   Turnbull, D M ^b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^f BEAUMONT HOSPITAL   (Ireland)

^g WESTERN GENERAL HOSPITAL   (United Kingdom)

^h ROYAL VICTORIA HOSPITAL   (United Kingdom)

ⁱ NONE

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; LACTIC ACID; MITOCHONDRIAL DNA; PYRUVATE DEHYDROGENASE COMPLEX; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ARTICLE; CEREBROSPINAL FLUID LEVEL; CHILD; CONTROLLED STUDY; ENZYME ASSAY; ENZYME DEFICIENCY; FEMALE; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; INFANT; LEIGH DISEASE; MAJOR CLINICAL STUDY; MALE; MUSCLE BIOPSY; MUTATION; PEDIGREE; PRIORITY JOURNAL; RESPIRATORY CHAIN;

BLOTTING, SOUTHERN; BRAIN; CHILD; CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; ELECTRON TRANSPORT COMPLEX IV; FEMALE; HUMANS; INFANT; LEIGH DISEASE; MALE; MUSCLE, SKELETAL; POINT MUTATION; PYRUVATE DEHYDROGENASE COMPLEX;

EID: 8944244529     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410400107     Document Type: Article

References (23)

1. Matthews PM, Marchington DR, Squier M, et al. Molecular genetic characterization of an X-linked form of Leigh's syndrome. Ann Neurol 1993;33:652-655
2. Van Coster R, Lombes A, De Vivo D, et al. Cytochrome c oxidase-associated Leigh syndrome: phenotypic features and pathogenic speculations, J Neurol Sci 1991;104:97-111
3. Santorelli FM, Shanske S, Macaya A, et al. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol 1993;34:827-834
4. Fujii T, Ito M, Okuno T, et al. Complex I (reduced nicotinamide-adenine dinucleotide-coenzyme Q reductase) deficiency in two patients with probable Leigh syndrome. J Pediatr 1990; 116:84-87
5. Cavanagh JB, Harding BN. Pathogenic factors underlying the lesions in Leigh's disease. Brain 1994;117:1357-1376
6. Barkovich AJ, Good WV, Koch TK, Berg BO. Mitochondrial disorders: analysis of their clinical and imaging characteristics. AJNR 1993;14:1119-1137
7. Shepherd IM, Birch-Machin MA, Johnson MA, et al. Cytochrome oxidase deficiency: immunological studies of skeletal muscle mitochondrial fractions. J Neurol Sci 1988;87:265-274
8. Birch-Machin MA, Briggs HL, Saborido AA, et al. An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria. Biochem Med Metab Biol 1994;51:35-42
9. Lowerson SA, Taylor L, Briggs HL, Turnbull DM. Measurement of the activity of individual respiratory chain complexes in isolated fibroblast mitochondria. Anal Biochem 1992;205: 372-374
10. Wijburg FA, Barth PG, Bindoff LA, et al. Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet. Neuropediatrics 1992;23:147-152
11. Wicking CA, Scholem RD, Hunt SM, Brown GK. Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase. Biochem J 1986;239:89-96
12. Moraes CT, Shanske S, Tritschler HJ, et al. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 1991;48:492-501
13. Santorelli FM, Shanske S, Jain KD, et al. A T→C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. Neurology 1994;44:972-974
14. Sweeney MG, Hammans SR, Duchen LW, et al. Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy. J Neurol Sci 1994; 121:57-65
15. Fryer A, Appleton R, Sweeney MG, et al. Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including "cerebral palsy." Arch Dis Child 1994;71: 419-422
16. Cross JH, Connelly A, Gadian DG, et al. The clinical diversity of pyruvate dehydrogenase deficiency. Pediatr Neurol 1994;10: 276-283
17. Thyagarajan D, Shanske S, Vazquez-Menije M, et al. A novel mitochondrial ATPase 6 mutation in familial bilateral striatal necrosis. Ann Neurol 1995;38:468-472
18. Larsson NG, Andersen O, Holme E, et al. Leber's hereditary optic neuropathy and complex I deficiency in muscle. Ann Neurol 1991;30:701-708
19. Robinson BH. Lacticacidemia. Biochim Biophys Acta 1993; 1182:231-244
20. Van Erven PMM, Gabreëls FJM, Ruitenbeek W, et al. Subacute necrotising encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver. Acta Neurol Scand 1985;72: 36-42
21. Van Erven PMM, Ruitenbeek W, Gabreëls FJM, Reiner WO. Disturbed oxidative metabolism in subacute necrotising encephalomyelopathy (Leigh syndrome). Neuropaediatrics 1986; 17:28-32
22. 1 oxidoreductase deficiency without lactic acidosis in a patient with Leigh syndrome: implications for the diagnosis of inborn errors of the respiratory chain. J Inherit Metab Dis 1991;14: 297-300
23. Nagai T, Goto Y, Matsuoka T, et al. Leigh encephalopathy: histologic and biochemical analyses of muscle biopsies. Pediatr Neurol 1992;8:328-332