Leber's hereditary optic neuropathy (LHON) in women and children;Lebersche optikusneuropathie (LHON) bei frauen und kindern

Ophthalmologe

Volumn 96, Issue 11, 1999, Pages 698-701

  Leo Kottler, Beate ^a   Christ Adler, Margot ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

Leber hereditary optic neuropathy; LHON; Mitochondrial DNA; MtDNA point mutation; Spontaneous recovery

Indexed keywords

MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; CONVALESCENCE; DISEASE COURSE; DISEASE SEVERITY; FEMALE; HEREDITARY OPTIC ATROPHY; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; ONSET AGE; POINT MUTATION; PROGNOSIS; REVIEW; SEX DIFFERENCE; VISUAL DISORDER;

EID: 0032743212     PISSN: 0941293X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s003470050479     Document Type: Review

References (24)

1. Besch D, Leo-Kottler B, Zrenner E, Wissinger B (1997) Lebersche hereditäre Optikusneuropathie (LHON): Klinische und molekulargenetische Ergebnisse bei einer Familie mit einer neuen Mutation im ND-6-Gen. Opthalmologe 94: 73
2. Besch D, Wissinger B, Zrenner E, Leo-Kottler B (1998) Eine neue Punktmutation im Cytochrom-B-Gen: Eine mögliche Variante der Leberschen hereditären Optikusneuropathie (LHON)? Ophthalmologe 95: 18
3. Chalmers RM, Harding AE (1996) A case-control study of Leber's hereditary optic neuropathy. Brain 119: 1481-1486
4. De Vries D, Went LN, Bruyn GW, Scholte HR, Hofstra RMW, Bolhuis PA, van Oost BA (1996) Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet 58: 703-711
5. Harding AE, Sweeney MG, Miller DH, Mumford CJ, Kellar-Wood H, Menard D, et al (1992) Occurence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation. Brain 115: 979-989
6. Harding AE, Sweeney MG, Govan GG, Riordan-Eva P (1995) Pedigree Analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. Am J Hum Genet 57: 77-86
7. Hotta Y, Fujiki K, Hayakawa M, Nakajima A, Kanai A, Mashima Y, Hiida Y, Shinoda K, Yamada K, Oguchi Y, Ishida M, Yanashima K, Wakakura M, Ishikawa S, Nakamura M, Sakai J, Yamamoto M, Hayashi T, Mitani I, Miyasaki S, Shimo-Oku M, Imachi J, Kuniyoshi N, Nagataki S, Isashiki Y, Ohba N (1995) Clinical features of Japanese Leber's hereditary optic neuropathy with 11778 mutation of mitochondrial DNA. Jpn J Ophthalmol 39: 96-108
8. Howell N (1994) Primary LHON mutations: trying to separate "fruyt" from "chaf". Clin Neurosci 2: 130-137
9. Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus ML (1991) A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet 48: 1147-1153
10. Johns DR, Neufeld MJ, Park RD (1992) An ND-6 mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Biochem Biophys Res Commun 187: 1551-1557
11. Jun AS, Brown MD, Wallace DC (1994) A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci USA 91: 6206-6210
12. Kellar-Wood H, Robertson N, Govan GG, Compston DAS, Harding AE (1994) Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis. Ann Neurol 36: 109-112
13. Lamminen T, Majander A, Juvonen V, et al (1995) A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidase phosphorylation in a family with Leber hereditary optic neuropathy. Am Hum Genet 56: 1238-1240
14. Leo-Kottler B, Christ-Adler M, Reck B, Wissinger B, Zrenner E (1995) Korrelation klinischer und molekulargenetischer Befunde bei Leberscher Optikusneuropathie. Ophthalmologe 92: 86-92
15. Leo-Kottler B, Christ-Adler M, Baumann B, Zrenner E, Wissinger B (1996) Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND6 gene. German J Ophthalmol 5: 233-240
16. Leo-Kottler B, Christ-Adler M (1998) Fehldiagnose Lebersche Optikusneuropathie (LHON): Stellenwert klinischer und molekulargenetischer Untersuchungen. Ophthalmologe 95: 549-554
17. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16: 1215
18. Newman NJ, Lott MT, Wallace DC (1991) The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol 111: 750-762
19. Nikoskelainen EK, Huoponen K, Juvonen V, Lamminen T, Nummelin K, Savontaus ML (1996) Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology 103: 504-514
20. Riordan-Eva P, Sanders MD, Govan GG, et al (1995) The clinical features of Leber hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 118: 319-337
21. van Senus AHC (1963) Leber's disease in the Netherlands. Doc Ophthalmol 17: 1-162
22. Thieme H, Jandeck C, Christ-Adler M, Wissinger B, Kraus M, Kellner U (1997) Lebersche hereditäre Optikusneuropathie mit der Mutation 11778: Eine Familie mit prädominanter Erkrankung junger Frauen. Ophthalmologe 94: 71
23. Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ II, Nikoskelainen EK (1988) Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242: 1427-1430
24. Yamada K, Mashima Y, Kigasawa K, Miyashita K, Wakakura M, Oguchi Y (1997) High incidence of visual recovery among four Japanese patients with Leber's hereditary optic neuropathy with the 14484 mutation. J Neuro-Ophthalmol 17: 103-107