Neurologic presentations of mitochondrial disorders

Journal of Child Neurology

Volumn 15, Issue 1, 2000, Pages 44-48

  Nissenkorn, Andreea ^a   Zeharia, Avraham ^b   Lev, Dorit ^a   Watemberg, Nathan ^a   Fattal Valevski, Aviva ^c   Barash, Varda ^d   Gutman, Alisa ^d   Harel, Shaul ^c   Lerman Sagie, Tally ^a  

^a WOLFSON MEDICAL CENTER   (Israel)

^b SCHNEIDER CHILDREN'S HOSPITAL   (United States)

^c Dana Children's Hospital   (Israel)

^d HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; AUTONOMIC DYSFUNCTION; BRAIN DISEASE; CHILD; DEVELOPMENTAL DISORDER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXTRAPYRAMIDAL SYMPTOM; HUMAN; MAJOR CLINICAL STUDY; MENTAL DEFICIENCY; MYOPATHY; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SEIZURE;

BRAIN DISEASES, METABOLIC, INBORN; CHILD; DEAFNESS; DEVELOPMENTAL DISABILITIES; FEMALE; FOLLOW-UP STUDIES; HUMANS; MALE; MELAS SYNDROME; MENTAL RETARDATION; MERRF SYNDROME; MITOCHONDRIAL MYOPATHIES; NEUROLOGIC EXAMINATION;

EID: 0033957295     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307380001500110     Document Type: Article

References (35)

1. Shoffner J, Wallace D: Oxidative phosphorylation diseases. Disorders of two genomes. Adv Hum Genet 1990;19:267-330.
2. Clarke L: Mitochondrial disorders in pediatrics. Clinical, biochemical and genetic implications. Pediatr Clin North Am 1992;39: 319-334.
3. Di Mauro S, Moraes C: Mitochondrial encephalomyopathies. Arch Neurol 1993;50:1197-1208.
4. Olson W, Engel WK, Walsh GO, Einaugler R: Oculocraniosomatic neuromuscular disease with "ragged-red muscle fibers." Arch Neurol 1972;26:193-211.
5. Egger J, Lake BD, Wilson J: Mitochondria cytopathy. A multisystem disorder with ragged red fibers on muscle biopsy. Arch Dis Child 1981;56:741-752.
6. Zeviani M, Moraes CT, DiMauro S, et al: Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1988;38:1339-1346.
7. Wallace DC, Singh G, Lott MT, et al: Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988;242:1427-1430.
8. Harding AE, Sweeney MG, Miller DH, et al: Occurrence of a multiple sclerosis-like illness in women who have Leber's hereditary optic neuropathy mitochondrial DNA mutation. Brain 1992;115: 979-989.
9. Parker WD, Oley CA, Parks JK: A defect in mitochondrial electron transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy. N Engl J Med 1989;20:1331-1333.
10. Leigh D: Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 1951;14:216-221.
11. Di Mauro S, De Vivo D: Genetic heterogeneity in Leigh syndrome. Ann Neurol 1996;40:5-7.
12. Hommes FA, Polman HA, Reerink JD: Leigh's encephalomyelopathy: An inborn error of gluconeogenesis. Arch Dis Child 1968;43: 423-426.
13. Fukuhara N, Tokigushi S, Shirakawa K, Tsubaki T: Myoclonus epilepsy associated with ragged-red fibers (mitochondrial abnormalities): Disease entity or syndrome? Light and electron microscopic studies of two cases and review of the literature. J Neurol Sci 1980;47:117-133.
14. Pavlakis SG, Phillips PC, DiMauro S, et al: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: A distinctive clinical syndrome. Ann Neurol 1984;16:481-488.
15. Shoffner JM, Lott MT, Lezza AMS, et al: Myoclonic epilepsy and ragged-red fibers disease (MERRF) is associated with a mitochondrial DNA tRNA Lys mutation. Cell 1990;61:931-937.
16. Goto Y, Nonaka I, Horai S: A mutation in the tRNA-(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990;348:651-653.
17. Birch-Machin MA, Shepherd IM, Watmough NJ, et al: Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain. Pediatr Res 1989;25:553-559.
18. Rustin P, Chretien D, Bourgeron T, et al: Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta 1994;228:35-51.
19. Sherrat HS, Watmough MA, Johnson MA, Turnbull DM: Methods for study of normal and abnormal skeletal muscle mitochondria. Methods Biochem Anal 1988;33:243-335.
20. Sheu KF, Hu CW, Utter MF: Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts. J Clin Invest 1981;67: 1463-1471.
21. Lowry OH, Rosenbrough NJ, Farr AL, Randall RJ: Protein measurement with Folin phenol reagent. J Biol Chem 1951;193:265-275.
22. Zeviani M, Tiranti V, Piantadosi C: Mitochondrial disorders. Medicine 1998;77:59-72.
23. Zeviani M, Servidei S, Gellera C, et al: An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989;339:309-311.
24. Shoffner JM, Lott MT, Voljavec AS, et al: Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial deletion: A slip-replication model and metabolic therapy.Proc Natl Acad Sci USA 1989;86:7952-7956.
25. Seibel P, Lauber J, Klopstock T, et al: Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNA(Asn) gene. Biochem Biophys Res Commun 1994;200:938-942.
26. Munnich A, Rotig A, Chretien D, et al: Clinical presentations of mitochondrial disorders in childhood. J Inherit Metab Dis 1996; 19:521-527.
27. Tulinius MH, Holme E, Kristiansson B, et al: Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations. J Pediatr 1991;119:242-250.
28. Tulinius MH, Holme E, Kristiansson B, et al: Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes. J Pediatr 1991;119:251-259.
29. Jackson MJ, Schaefer JA, Johnson MA, et al: Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients. Brain 1995;118:339-357.
30. Zeviani M, Bertagnolio B, Uziel G: Neurologic presentations of mitochondrial diseases. J Inherit Metab Dis 1996;19:504-520.
31. Gillberg C, Coleman M: Metabolic disorders, in Gillberg C, Coleman M (eds): The Biology of the Autistic Syndromes, 2nd ed. London, MacKeith Press, 1992, 203-217.
32. Lombard J: Autism: A mitochondrial disorder? Med Hypotheses 1998;50:497-500.
33. Hirano M, Silvestri G, Blake DM, et al: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical and genetic features of an autosomal recessive mitochondrial disorder. Neurology 1994;44:721-724.
34. Rotig A, Cormier V, Chatelain P, et al: Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome). J Inherit Metab Dis 1993;16:527-530.
35. Zelnik N, Axelrod FB, Leshinsky E, et al: Mitochondrial encephalomyopathies presenting with features of autonomic and visceral dysfunction. Pediatr Neurol 1996;14:251-254.