Childhood Leber's hereditary optic neuropathy (ND1/3460) with visual recovery

Pediatric Neurology

Volumn 19, Issue 4, 1998, Pages 308-312

  Pezzi, Paola Pivetti ^a   De Negri, Anna Maria ^a   Sadun, Federico ^a   Carelli, Valerio ^b   Leuzzi, Vincenzo ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); ROTENONE;

ARTICLE; CASE REPORT; CENTRAL SCOTOMA; CLINICAL FEATURE; COLOR VISION DEFECT; COMPUTER ASSISTED TOMOGRAPHY; HEREDITARY OPTIC ATROPHY; HUMAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE DISEASE; POINT MUTATION; PRIORITY JOURNAL; SCHOOL CHILD; VISUAL ACUITY; VISUAL IMPAIRMENT;

BLOOD PLATELETS; CHILD; DNA, MITOCHONDRIAL; HUMANS; MALE; NAD(P)H DEHYDROGENASE (QUINONE); OPTIC ATROPHIES, HEREDITARY; POINT MUTATION; ROTENONE; VISION; VISUAL ACUITY; VISUAL FIELDS;

EID: 0032192258     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0887-8994(98)00060-5     Document Type: Article

References (24)

1. Brown M.D., Wallace D.C. Spectrum of mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Clin Neurosci. 2:1994;138-145.
2. Vergani L., Martinuzzi A., Carelli V., et al. MtDNA mutations associated with Leber's hereditary optic neuopathy Studies on cytoplasmic hybrid (cybrid) cells . Biochem Biophys Res Commun. 210:1995;880-888.
3. Hofhaus G., Attardi G. Efficient selection and characterization of mutants of a human cell line which are defective in mitochondrial DNA-encoded subunits of respiratory NADH deydrogenase. Mol Cell Biol. 15:1995;964-974.
4. Howell N., Bindoff L.A., McCullough D.A., et al. Leber hereditary optic neuropathy Identification of the same mitochondrial ND1 mutation in six pedigrees . Am J Hum Genet. 49:1991;939-950.
5. Majander A., Huoponen K., Savontaus M.-L., Nikoskelainen E., Wikstrom M. Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and ND4/11778 mutations of the Leber hereditary optic neuropathy. FEBS Lett. 292:1991;289-292.
6. Smith P.R., Cooper J.M., Harding A.E., Schapira A.H.V. Platelet mitochondrial function in Leber's hereditary optic neuropathy. J Neurol Sci. 122:1994;80-83.
7. Carelli V., Ghelli A., Ratta M., et al. Leber's hereditary optic neuropathy (LHON) Biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlations with the mitochondrial genotype . Neurology. 48:1997;1623-1632.
8. Oostra R.-J., Van Galen M.J.M., Bolhuis P.A., Bleeker-Wagemakers E.M., Van den Bogert C. The mitochondrial DNA mutation ND6*14,484 associated with Leber hereditary optic neuropathy, leads to deficiency of complex I of the respiratory chain. Biochem Biophys Res Commun. 215:1995;1001-1005.
9. Cock H.R., Cooper J.M., Schapira A.H.V. The 14484 ND6 mutation in Leber hereditary optic neuropathy does not affect fibroblast complex I activity. Am J Hum Genet. 57:1995;1501-1502.
10. Newman N.J., Lott M.T., Wallace D.C. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol. 111:1991;750-762.
11. Johns D.R., Smith K.H., Miller N.R. Leber's hereditary optic neuropathy Clinical manifestations of the 3460 mutation . Arch Ophthalmol. 110:1992;1577-1581.
12. Johns D.R., Heher K.L., Miller N.R., Smith K.H. Leber's hereditary optic neuropathy Clinical manifestations of the 14484 mutation . Arch Ophthalmol. 111:1993;495-498.
13. Mackey D.A. Three subgroups of patients from the united kingdom with Leber hereditary optic neuropathy. Eye. 8:1994;431-436.
14. Riordan-Eva P., Sanders M.D., Govan G.G., Sweeney M.G., Da Costa J., Harding A.E. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain. 118:1995;319-337.
15. Nikoskelainen E.K., Huoponen K., Juvonen V., Lamminen T., Nummelin K., Savontaus M.-L. Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology. 103:1996;504-514.
16. Carducci C., Leuzzi V., Scuderi M., Antonozzi I., Pontecorvi A. Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy. Hum Genet. 87:1991;725-728.
17. Gerbitz K.D., Paprotta A., Obermaier-Kusser B., Rietschel M., Zerres K. No genetic differences between affected and unaffected members of a German family with Leber's hereditary optic neuropathy (LHON) with respect to ten mtDNA mutations associated with LHON. FEBS Lett. 3:1992;251-255.
18. Degli Espositi M., Carelli V., Ghelli A., et al. Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy. FEBS Lett. 352:1994;375-379.
19. Singer T.P., Ramsay R.R. NADH-ubiquinone oxidoreductase. Ernster L. Molecular mechanisms in bioenergetics. 1994;145-162 Elsevier, Amsterdam.
20. Huoponen K., Vilkki J., Aula P., Nikoskelainen E., Savontaus M.-L. A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet. 48:1991;1147-1153.
21. Moorman C.M., Elston J.S., Matthews P. Leber's hereditary optic neuropathy as a cause of severe visual loss in childhood. Pediatrics. 91:1993;988-989.
22. Sadun A.A., Kashima Y., Wunderman A.E., Dao J., Heller K., Sherman J. Morphological findings in the visual system in a case of Leber's hereditary optic neuropathy. Clin Neurosci. 2:1994;165-172.
23. Howell N., Xu M., Halvorson S., Bodis-Wollner I., Sherman J. A heteroplasmic LHON family Tissue distribution and transmission of the 11778 mutation . Am J Hum Genet. 55:1994;203-206.
24. Harding A.E., Seeney M.G., Govan G.G., Riordan-Eva P. Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. Am J Hum Genet. 57:1995;77-86.