Mitochondrial disorders: A proposal for consensus diagnostic criteria in infants and children

Neurology

Volumn 59, Issue 9, 2002, Pages 1402-1405

  Wolf, Nicole I ^a,b   Smeitink, Jan A M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC IMAGING; DISEASE CLASSIFICATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; PRIORITY JOURNAL; RESPIRATORY CHAIN; RESPIRATORY TRACT DISEASE; SCORING SYSTEM;

EID: 0037069274     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000031795.91814.D8     Document Type: Article

References (26)

1. Smeitink J, van den Heuvel L, DiMauro S. The genetics and pathology of oxidative phosphorylation. Nat Rev Genet 2001;2:342-352.
2. De Vivo DC. The expanding clinical spectrum of mitochondrial diseases. Brain Dev 1993;15:1-22.
3. Munnich A, Rustin P, Rotig A, et al. Clinical spectrum and diagnosis of mitochondrial disorders. Am J Med Genet (Semin Med Genet) 2001;106:4-17.
4. Di Mauro S, Bonilla E, De Vivo DC. Does the patient have a mitochondrial encephalomyopathy? J Child Neurol 1999;14:S23-S35.
5. Uusima J, Remes AM, Rantala H, et al. Childhood encephalopathies and myopathies: A prospective study in a defined population to assess the frequency of mitochondrial disorders. Pediatrics 2000;105:598-603.
6. Darin N, Oldfors A, Moslemi A-R, Holme E, Tulinius M. The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities. Ann Neurol 2001;49:377-383.
7. Walker UA, Collins S, Byrne E. Respiratory chain encephalomyopathies: A diagnostic classification. Eur Neurol 1996;36:260-267.
8. Bernier FP, Boneh A, Dennett X, Chow CW, Cleary MA, Thorburn DR. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 2002;59:1406-1411.
9. Loeffen JL, Smeitink JA, Trijbels JM, et al. Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects. Hum Mutat 2000;15:123-134.
10. Bourgeron T, Rustin P, Chretien D, et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet 1995;11:144-149.
11. Sue CM, Karadimas C, Checcarelli N, et al. Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2. Ann Neurol 2000;47:589-595.
12. Nishino I, Spinazzola A, Papadimitriou A, et al. Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol 2000;792-800:
13. Petty RK, Harding AE, Morgan-Hughes JA. The clinical features of mitochondrial myopathy. Brain 1986;109:915-938.
14. Bookelman H, Trijbels JMF, Sengers RCA, Janssen AJM, Veerkamp JH, Stadhouders AM. Pyruvate oxidation in rat and human skeletal muscle mitochondria. Biochem Med 1978;20:395-403.
15. Ruitenbeek W, Janssen AJM, Fischer JC, Sengers RCA, Trijbels JMF, Stadhouders AM. Investigation of the energy metabolism in diseased human muscular tissue. In: Scarlato G, Cerri C, eds. Mitochondrial Pathology in Muscle Diseases. Padua: Piccin Nuova Libraria, 1983:197-293.
16. 1 ATPase in regenerating rat liver. Eur J Biochem 1986;439-445.
17. Sperl W, Trijbels JM, Ruitenbeek W, et al. Measurement of totally activated pyruvate dehydrogenase complex activity in human muscle: Evaluation of an useful assay. Enzyme Protein 1993;47:37-46.
18. Fischer JC, Ruitenbek W, Gabreels FJ, et al. A mitochondrial encephalomyopathy: The first case with an established defect at the level of coenzyme Q. Eur J Pediatr 1986;144:441-444.
19. Trijbels F, Smeitink J, Sengers R, Janssen A, van den Heuvel L. Diagnostik der mitochondriopathien. In: Milner M, ed. Aktuelle Neuropädiatrie 1999. Zürich: Novartis Pharma Verlag, 2000:105-111.
20. Ventura FV, Ruiter JP, Ijlst L, de Almeida IT, Wanders RJ. Inhibition of oxidative phosphorylation by palmitoyl-CoA in digitonin-permeabilized fibroblasts: Implication for long-chain fatty acid beta-oxidation disorders. Biochim Biophys Acta 1995;1272:14-20.
21. Scharfe C, Hauschild M, Klopstock T, et al. A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I. J Mol Genet 2000;37:669-673.
22. Das AM, Kohlschütter A. Decreased activity of the mitochondrial ATP-synthase in fibroblasts from children with late-infantile and juvenile neuronal ceroid lipofuscinosis. J Inherit Metab Dis 1996;19:130-132.
23. Lücke T, Das AM, Riedel J, et al. Atypical Pelizaeus-Merzbacher disease: PLP gene duplication and respiratory chain deficit in two unrelated children of both sexes. Neuropediatrics 2000;31:A29. Abstract.
24. Rötig A, de Lonlay P, Chretien D, et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet 1997;17:215-217.
25. Lodi R, Cooper JM, Bradley JL, et al. Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. Proc Natl Acad Sci USA 1999;96:11492-11495.
26. Rustin P, von Kleist-Retzow JC, Chantrel-Groussard K, Sidi D, Munnich A, Rötig A. Effect of idebenone on cardiomyopathy in Friedreich's ataxia: A preliminary study. Lancet 1999;354:477-479.