Peripheral neuropathy in genetic mitochondrial diseases

Pediatric Neurology

Volumn 34, Issue 2, 2006, Pages 127-131

  Stickler, David E ^a,c   Valenstein, Edward ^a   Neiberger, Richard E ^b   Perkins, Leigh Ann ^b   Carney, Paul R ^b   Shuster, Jonathan J ^a   Theriaque, Douglas W ^a   Stacpoole, Peter W ^a,b  

^a UNIVERSITY OF FLORIDA   (United States)

^b UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^c MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DICHLOROACETIC ACID;

ADOLESCENT; ADULT; ARTICLE; CELL ENERGY; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL TRIAL; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ELECTROPHYSIOLOGY; FEMALE; HUMAN; INCIDENCE; LACTIC ACIDOSIS; MALE; MEDIAN NERVE; MOTOR NERVE CONDUCTION; NERVE CONDUCTION; PERIPHERAL NEUROPATHY; PERONEUS NERVE; PRIORITY JOURNAL; SCHOOL CHILD; SURAL NERVE;

ACIDOSIS, LACTIC; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MALE; MEDIAN NERVE; MITOCHONDRIAL DISEASES; NEURAL CONDUCTION; PERIPHERAL NERVOUS SYSTEM DISEASES; PERONEAL NERVE; REACTION TIME; SURAL NERVE;

EID: 31944434773     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2005.08.006     Document Type: Article

References (37)

1. S. Coker Leigh Disease presenting as Guillain-Barré Syndrome Pediatr Neurol 9 1993 61 63
2. S. Bouillot, M.L. Martin-Negrier, A. Vital Peripheral neuropathy associated with mitochondrial disorders 8 cases and review of the literature J Peripher Nerv Syst 7 2002 213 220
3. C.C. Chu, C.C. Huang, W. Fang, N.S. Chu, C.Y. Pang, Y.H. Wei Peripheral neuropathy in mitochondrial encephalopathies Eur Neurol 37 1997 110 115
4. H.H. Goebel, A. Bardosi, R.L. Friede, A. Kohlschutter, M. Albani, H. Siemes Sural nerve biopsy in Leigh's subacute necrotizing encephalomyelopathy Muscle Nerve 9 1986 165 173
5. C. Yiannikas, J. McLeod, J. Pollard, J. Baverstock Peripheral neuropathy associated with mitochondrial myopathy Ann Neurol 20 1986 249 257
6. Leu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome Neurology 41 1991 1663 1665
7. M. Naumann, R. Kiefer, K.V. Toyka, C. Sommer, P. Seibel, H. Reichmann Mitochondrial dysfunction with myoclonus epilepsy and ragged red fibers point mutation in nerve, muscle and adipose tissue of a patient with multiple symmetric lipomatosis Muscle Nerve 20 1997 833 839
8. H. Mizusawa, M. Watanabe, I. Kanazawa Familial mitochondrial myopathy associated with peripheral neuropathy Partial deficiencies of complex I and IV J Neurol Sci 86 1988 171 184
9. A. Moosa Motor nerve conduction velocities in Leigh's encephalomyelopathy Arch Dis Child 53 1978 62 65
10. Leu(UUR) mutation at the base pair 3243 of the mitochondrial DNA Neurology 45 1995 1188 1192
11. M. Kärppä, P. Syrjälä, U. Tolonen, K. Majamaa Peripheral neuropathy in patients with the 3243 A>G mutation in mitochondrial DNA J Neurol 250 2003 216 221
12. J. Peyronnard, L. Charron, A. Bellavance, L. Marchand Neuropathy and mitochondrial myopathy Ann Neurol 7 1980 262 268
13. G. Pezeshkpour, C. Krarup, F. Buchthal, S. DiMauro, N. Bresolin, J. McBurney Peripheral neuropathy in mitochondrial disease J Neurol Sci 77 1987 285 304
14. G. Bonne, C. Benelli, L. De Meirleir E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy Pediatr Res 33 1990 284 288
15. E. Byrne, X. Dennett, I. Trounce, J. Burdon Mitochondrial myoneuropathy with respiratory failure and myoclonic epilepsy J Neurol Sci 71 1985 273 281
16. C.C. Huang, C.C. Chu, C.Y. Pang, Y.H. Wei Tissue mosaicism in the skeletal muscle and sural nerve biopsies in the MELAS syndrome Acta Neurol Scand 99 1999 125 129
17. I.M. Shepherd, M.A. Birch-Machin, M.A. Johnson Cytochrome oxidase deficiency Immunological studies of skeletal muscle mitochondrial fractions J Neurol Sci 87 1988 265 274
18. J. Schröder, C. Sommer Mitochondrial abnormalities in human sural nerves Fine structural evaluation of cases with mitochondrial myopathy, hereditary and non-hereditary neuropathies, and a review of the literature Acta Neuropathol 82 1991 471 482
19. Stacpoole PW, Kerr DS, Barnes C, et al. A controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children. Pediatrics. In press.
20. F. Cai, J. Zhang Study of nerve conduction and late responses in normal Chinese infants, children and adults J Child Neurol 12 1997 13 18
21. I. Gamstorp Normal conduction velocity of ulnar, median and peroneal nerves in infancy, childhood and adolescence Acta Paediatr 146 1963 68 76
22. E. Parano, A. Uncini, D. DeVivo, R. Lovelace Electrophysiologic correlates of peripheral nervous system maturation in infancy and childhood J Child Neurol 8 1993 336 338
23. R.M. Buschbacher, J. Koch Race effect on nerve conduction studies A comparison between 50 blacks and 50 whites Arch Phys Med Rehabil 80 1999 536 539
24. B. Chabrol, J. Mancini, C. Benelli, C. Gire, A. Munnich Leigh syndrome: Pyruvate dehydrogenase defect. A case with peripheral neuropathy J Child Neurol 9 1994 52 55
25. Lys gene associated with myoclonus epilepsy with ragged-red fibers Neurology 52 1999 377 382
26. P. Calabresi, G. Silvestri, S. DiMauro, R. Griggs Ekbom's syndrome Lipomas, ataxia, and neuropathy with MEERF Muscle Nerve 17 1994 943 945
27. T. Nagashima, H. Kato, S. Maguchi A mitochondrial encephalo-myo- neuropathy with a nucleotide position 3271 (T-C) point mutation in the mitochondrial DNA Neuromuscul Disord 11 2001 470 476
28. Y. Barak, S. Arnon, B. Wolach MELAS syndrome: Peripheral neuropathy and cytochrome c-oxidase deficiency: A case report and review of the literature Isr J Med Sci 31 1995 224 229
29. S.H. Chang, J. Garcia, J.A. Melendez, M. Kilberg, A. Agarwal Haem oxygenase 1 gene induction by glucose deprivation is mediated by reactive oxygen species via the mitochondrial electron transport chain Biochem J 371 2003 877 885
30. J. Schröder Neuropathy associated with mitochondrial disorders Brain Pathol 3 1993 177 190
31. E.L. Logigian, J.J. Kelley, L.S. Adelman Nerve conduction and biopsy correlation in over 100 consecutive patients with suspected polyneuropathy Muscle Nerve 17 1994 1010 1020
32. G.M. Enns The contribution of mitochondria to common disorders Mol Genet Metab 80 2003 11 26
33. P.W. Stacpoole Lactic acidosis and other mitochondrial disorders Metabolism 46 1997 306 321
34. H. Ischiropoulos, J.S. Beckman Oxidative stress and nitration in neurodegeneration Cause, effect, or association? J Clin Invest 11 2003 163 169
35. M. Scortegagna, K. Dinsg, Y. Oktay Multiple organ pathology, metabolic abnormalities and impaired homeostasis of reactive oxygen species in Epas 1-/- mice Nat Genet 35 2003 331 340
36. R. Fern, P. Davis, S.G. Waxman, B.R. Ransom Axon conduction and survival in CNS white matter during energy deprivation A developmental study J Neurophysiol 79 1998 95 105
37. C.J. Zhou, N. Inagaki, S.J. Pleasure, L.X. Zhao, S. Kikuyama, S. Shioda ATP-binding in the developing spinal cord and PNS during myelination J Comp Neurol 451 2002 334 345