Leber's hereditary optic neuropathy - Update review

Neuro-Ophthalmology

Volumn 26, Issue 1, 2001, Pages 23-34

  Yen, May Yung ^a   Wei, Yau Huei ^a  

^a TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

Author keywords

Leber's hereditary optic neuropathy; Mitochondrial DNA mutation; Respiratory chain function

Indexed keywords

MITOCHONDRIAL DNA;

CLINICAL FEATURE; EXTRACHROMOSOMAL INHERITANCE; HEREDITARY OPTIC ATROPHY; HEREDITY; HUMAN; MITOCHONDRIAL RESPIRATION; POINT MUTATION; PROGNOSIS; REVIEW; VISUAL IMPAIRMENT;

EID: 0035741249     PISSN: 01658107     EISSN: None     Source Type: Journal    
DOI: 10.1076/noph.26.1.23.8053     Document Type: Review

References (71)

1. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
2. Mitochondrial DNA variation in human evolution and disease
3. A case of Leber optic neuropathy with a new point mutation in the cytochrome b gene
4. The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy
5. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy
6. Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy
7. Late-onset of Leber's hereditary optic neuropathy
8. On the many faces of Leber hereditary optic neuropathy
9. A pedigree of Leber's hereditary optic neuropathy with visual loss in childhood, primarily in girls
10. Pedigree analysis in Leber hereditary optic neuropathy with a pathogenic mtDNA mutation
11. Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy
12. Pupillary light reflexes in patients with Leber's hereditary optic neuropathy
13. Comparing pupil function with visual function in patients with Leber's hereditary optic neuropathy
14. Detection of mitochondrial DNA nucleotide 11778 point mutation of Leber hereditary optic neuropathy from archival stained histopathological preparations
15. Orbital high resolution magnetic resonance imaging with fast spin echo in the acute stage of Leber's hereditary optic neuropathy
16. Scanning laser ophthalmoscopy as a tool for detecting atrophy of the central retinal nerve fiber layer in Leber's hereditary optic neuropathy
17. Magnetic resonance imaging, magnetisation transfer imaging, and diffusign weighted imaging correlates of optic nerve, brain, and cervical cord damage in Leber's hereditary optic neuropathy
18. A histopathologic and morphometric differentiation of nerves in optic nerve hypoplasia and Leber hereditary optic neuropathy
19. Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve
20. Changes in mitochondrial complex I activity and coenzyme Q binding site in Leber's hereditary optic neuropathy (LHON)
21. Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy
22. Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
23. Mutations in subunits 6 of the F1F0-ATP synthase cause two entirely different diseases
24. 31P magnetic resonance spectroscopy
25. Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation
26. Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy
27. Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia
28. Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation
29. Energy charge is not decreased in lymphocytes of patients with Leber's hereditary optic neuropathy with the 11778 mutation
30. Heteroplasmy in Leber's hereditary optic neuropathy
31. Segregation patterns and heteroplasmy prevalence in Leber's hereditary optic neuropathy
32. Leber's hereditary optic neuropathy: Heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation
33. A family with Leber's hereditary optic neuropathy with mitochondrial DNA heteroplasmy related to disease expression
34. Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?
35. Exclusive homoplamic 11778 mutation in mitochondrial DNA of Chinese patients with Leber's hereditary optic neuropathy
36. Leber's hereditary optic neuropathy: Biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype
37. Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy
38. Maternal genes: Mitochondrial disease
39. A chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: Evidence from segregation analysis for dependence on X-chromosome inactivation
40. Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation
41. Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy
42. Meiotic breakpoint mapping of a proposed X linked visual loss susceptibility locus in Leber's hereditary optic neuropathy
43. No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers
44. X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant
45. The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy
46. Genotypes of aldehyde dehydrogenase and alcohol dehydrogenase polymorphisms in patients with Leber's hereditary optic neuropathy
47. Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy
48. Leber's hereditary optic neuropathy with the 11778 mtDNA mutation and white matter disease resembling multiple sclerosis: Clinical, MRI and MRS findings
49. Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations
50. A multiple sclerosis-like illness in a man harboring the mtDNA 14484 mutation
51. Leber's hereditary optic neuropathy mitochondrial DNA mutations in familial multiple sclerosis
52. Characterization of the mitochondrial genome in childhood multiple sclerosis. II. Multiple sclerosis with optic neuritis and LHON-associated genes
53. Characterization of the mitochondrial genome in childhood multiple sclerosis. I. Optic neuritis and LHON mutations
54. Large scale screening of the mitochondrial DNA reveals no pathogenic mutations but a haplotype associated with multiple sclerosis in Caucasians
55. Neuromyelitis optica (Devic's syndrome): No association with the primary mitochondrial DNA mutations found in Leber hereditary optic neuropathy
56. Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage
57. Haplotype and phylogenic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484
58. MtDNA haplotype J: A contributing factor of optic neuritis
59. Novel mutations of mitochondrial complex I in pathologically proven Parkinson disease
60. Mitochondrial DNA in stroke and migraine with aura
61. Analysis of the mitochondrial DNA from patients with Wolfram (DIDMOAD) syndrome
62. Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes
63. 'Secondary' 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative metabolism when associated with the 11778/ND4 mitochondrial DNA mutation
64. MtDNA mutations confer cellular sensitivity to oxidant stress that is partially rescued by calcium depletion and cyclosporin A
65. Remission of Leber's hereditary optic neuropathy with idebenone
66. Leber's hereditary optic neuropathy (LHON) with 14484/ND6 mutation in a North African patient
67. Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy?
68. 31P-MRS study
69. A case of Leber's hereditary optic neuropathy with a mitochondrial DNA mutation at nucleotide position 3460
70. Coenzyme Q: A new group of quinones
71. Lateral diffusion of ubiquinone during electron transfer in phospholipid- and ubiquinone-enriched mitochondrial membrane