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Volumn 119, Issue 5, 1996, Pages 1481-1486

A case-control study of Leber's hereditary optic neuropathy

Author keywords

Alcohol; Leber's hereditary optic neuropathy; Multiple sclerosis; Tobacco; Tremor

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0029969778     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/119.5.1481     Document Type: Article
Times cited : (70)

References (38)
  • 3
    • 0025820109 scopus 로고
    • X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: Evidence from segregation analysis for dependence on X chromosome inactivation
    • Bu XD, Rotter JI. X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation. Proc Natl Acad Sci USA 1991; 88: 8198-202.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 8198-8202
    • Bu, X.D.1    Rotter, J.I.2
  • 4
    • 0019892054 scopus 로고
    • Thiosulphate-sulphur transferase (rhodanese) deficiency in Leber's hereditary optic atrophy
    • Cagianut B, Rhyner K, Furrier W, Schnebli HP. Thiosulphate-sulphur transferase (rhodanese) deficiency in Leber's hereditary optic atrophy [letter]. Lancet 1981; 2: 981-2.
    • (1981) Lancet , vol.2 , pp. 981-982
    • Cagianut, B.1    Rhyner, K.2    Furrier, W.3    Schnebli, H.P.4
  • 5
    • 84889512007 scopus 로고    scopus 로고
    • Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy
    • In press
    • Chalmers RM, Davis MB, Sweeney MG, Wood NW, Harding AE. Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy. Am J Hum Genet. In press.
    • Am J Hum Genet.
    • Chalmers, R.M.1    Davis, M.B.2    Sweeney, M.G.3    Wood, N.W.4    Harding, A.E.5
  • 6
    • 0002808222 scopus 로고
    • Odd tremors
    • Marsden CD, Fahn S, editors. London: Butterworth Heinemann
    • Cleeves L, Findley LJ, Marsden CD. Odd tremors. In: Marsden CD, Fahn S, editors. Movement disorders 3. London: Butterworth Heinemann, 1994: 444-5.
    • (1994) Movement Disorders 3 , pp. 444-445
    • Cleeves, L.1    Findley, L.J.2    Marsden, C.D.3
  • 7
  • 8
    • 0025757273 scopus 로고
    • Generation of T cells with lytic specificity for atypical antigens. I. A mitochondrial antigen in the rat
    • Davies JD, Wilson DH, Hermel E, Lindahl KF, Butcher GW, Wilson DB. Generation of T cells with lytic specificity for atypical antigens. I. A mitochondrial antigen in the rat. J Exp Med 1991; 173: 823-32.
    • (1991) J Exp Med , vol.173 , pp. 823-832
    • Davies, J.D.1    Wilson, D.H.2    Hermel, E.3    Lindahl, K.F.4    Butcher, G.W.5    Wilson, D.B.6
  • 9
    • 0026608148 scopus 로고
    • Evidence for a metabolic trigger for Leber's hereditary optic neuropathy. A case report
    • DuBois LG, Feldon SE. Evidence for a metabolic trigger for Leber's hereditary optic neuropathy. A case report. J Clin Neuroophthalmol 1992; 12: 15-6.
    • (1992) J Clin Neuroophthalmol , vol.12 , pp. 15-16
    • DuBois, L.G.1    Feldon, S.E.2
  • 10
    • 0027731794 scopus 로고
    • Association of the 11778 mitochondrial DNA mutation and demyelinating disease
    • Flanigan KM, Johns DR. Association of the 11778 mitochondrial DNA mutation and demyelinating disease. Neurology 1993; 43: 2720-2.
    • (1993) Neurology , vol.43 , pp. 2720-2722
    • Flanigan, K.M.1    Johns, D.R.2
  • 13
    • 0026782507 scopus 로고
    • Occurrence of a multiple sclerosis-like illness in women who have a Leber hereditary optic neuropathy mt-DNA mutation
    • Harding AE, Sweeney MG, Miller DH, Mumford CJ, Kellar-Wood H, Menard D, et al. Occurrence of a multiple sclerosis-like illness in women who have a Leber hereditary optic neuropathy mt-DNA mutation. Brain 1992; 115: 979-89.
    • (1992) Brain , vol.115 , pp. 979-989
    • Harding, A.E.1    Sweeney, M.G.2    Miller, D.H.3    Mumford, C.J.4    Kellar-Wood, H.5    Menard, D.6
  • 14
    • 0029064615 scopus 로고
    • Pedigree analysis in Leber's hereditary optic neuropathy families with a pathogenic mitochondrial DNA mutation
    • Harding AE, Sweeney MG, Govan GG, Riordan-Eva P. Pedigree analysis in Leber's hereditary optic neuropathy families with a pathogenic mitochondrial DNA mutation. Am J Hum Genet 1995; 57: 77-86.
    • (1995) Am J Hum Genet , vol.57 , pp. 77-86
    • Harding, A.E.1    Sweeney, M.G.2    Govan, G.G.3    Riordan-Eva, P.4
  • 15
    • 0026495869 scopus 로고
    • Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation
    • Johns DR, Smith KH, Miller NR. Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation. Arch Ophthalmol 1992; 110: 1577-81.
    • (1992) Arch Ophthalmol , vol.110 , pp. 1577-1581
    • Johns, D.R.1    Smith, K.H.2    Miller, N.R.3
  • 16
    • 0027502505 scopus 로고
    • Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation
    • Johns DR, Heher KL, Miller NR, Smith KH. Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation. Arch Ophthalmol 1993a; 111: 495-8.
    • (1993) Arch Ophthalmol , vol.111 , pp. 495-498
    • Johns, D.R.1    Heher, K.L.2    Miller, N.R.3    Smith, K.H.4
  • 18
    • 0027483762 scopus 로고
    • Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON)
    • Juvonen V, Vilkki J, Aula P, Nikoskelainen E, Savontaus ML. Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON) [letter]. Am J Hum Genet 1993; 53: 289-92.
    • (1993) Am J Hum Genet , vol.53 , pp. 289-292
    • Juvonen, V.1    Vilkki, J.2    Aula, P.3    Nikoskelainen, E.4    Savontaus, M.L.5
  • 19
  • 21
    • 0025312304 scopus 로고
    • Maternally transmitted histocompatibility antigen of mice: A hydrophobic peptide of a mitochondrially encoded protein
    • Loveland B, Wang CR, Yonekawa H, Hermel E, Lindahl KF. Maternally transmitted histocompatibility antigen of mice: a hydrophobic peptide of a mitochondrially encoded protein. Cell 1990; 60: 971-80.
    • (1990) Cell , vol.60 , pp. 971-980
    • Loveland, B.1    Wang, C.R.2    Yonekawa, H.3    Hermel, E.4    Lindahl, K.F.5
  • 22
    • 0025881563 scopus 로고
    • The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation
    • Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol 1991; 111: 750-62.
    • (1991) Am J Ophthalmol , vol.111 , pp. 750-762
    • Newman, N.J.1    Lott, M.T.2    Wallace, D.C.3
  • 23
  • 24
    • 0023185081 scopus 로고
    • Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees
    • Nikoskelainen EK, Savontaus ML, Wanne OP, Katila MJ, Nummelin KU. Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees. Arch Ophthalmol 1987; 105: 665-71.
    • (1987) Arch Ophthalmol , vol.105 , pp. 665-671
    • Nikoskelainen, E.K.1    Savontaus, M.L.2    Wanne, O.P.3    Katila, M.J.4    Nummelin, K.U.5
  • 27
    • 0028957580 scopus 로고
    • Leber's hereditary optic neuropathy associated with a disorder indistinguishable from multiple sclerosis in a male harbouring the mitochondrial DNA 11778 mutation
    • Olsen NK, Hansen AW, Nørby S, Edal AL, Jørgensen JR, Rosenberg T. Leber's hereditary optic neuropathy associated with a disorder indistinguishable from multiple sclerosis in a male harbouring the mitochondrial DNA 11778 mutation. Acta Neurol Scand 1995; 91: 326-9.
    • (1995) Acta Neurol Scand , vol.91 , pp. 326-329
    • Olsen, N.K.1    Hansen, A.W.2    Nørby, S.3    Edal, A.L.4    Jørgensen, J.R.5    Rosenberg, T.6
  • 28
    • 0027207688 scopus 로고
    • Central nervous system involvement in Leber's optic neuropathy
    • Paulus W. Straube A, Bauer W, Harding AE. Central nervous system involvement in Leber's optic neuropathy. J Neurol 1993; 240: 251-3.
    • (1993) J Neurol , vol.240 , pp. 251-253
    • Paulus, W.1    Straube, A.2    Bauer, W.3    Harding, A.E.4
  • 29
    • 0022625001 scopus 로고
    • Deficiency of thiosulphate sulphurtransferase (rhodanese) in Leber's hereditary optic neuropathy
    • Poole CJM, Kind PRN. Deficiency of thiosulphate sulphurtransferase (rhodanese) in Leber's hereditary optic neuropathy. Br Med J 1986; 292: 1229-30.
    • (1986) Br Med J , vol.292 , pp. 1229-1230
    • Poole, C.J.M.1    Kind, P.R.N.2
  • 30
    • 0028949749 scopus 로고
    • The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation
    • Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, Da Costa J, Harding AE. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 1995; 118: 319-37.
    • (1995) Brain , vol.118 , pp. 319-337
    • Riordan-Eva, P.1    Sanders, M.D.2    Govan, G.G.3    Sweeney, M.G.4    Da Costa, J.5    Harding, A.E.6
  • 31
    • 0028889912 scopus 로고
    • Adenosine triphosphate deficiency: A genre of optic neuropathy
    • Rizzo JF 3d. Adenosine triphosphate deficiency: a genre of optic neuropathy. Neurology 1995; 45: 11-6.
    • (1995) Neurology , vol.45 , pp. 11-16
    • Rizzo III, J.F.1
  • 32
    • 0029091199 scopus 로고
    • Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation
    • Shoffner JM, Brown MD, Stugard C, Jun AS, Pollock S, Haas RH, et al. Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation. Ann Neurol 1995; 38: 163-9.
    • (1995) Ann Neurol , vol.38 , pp. 163-169
    • Shoffner, J.M.1    Brown, M.D.2    Stugard, C.3    Jun, A.S.4    Pollock, S.5    Haas, R.H.6
  • 35
    • 0026693837 scopus 로고
    • Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy
    • Sweeney MG, Davis MB, Lashwood A, Brockington M, Toscano A, Harding AE. Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy. Am J Hum Genet 1992; 51: 741-8.
    • (1992) Am J Hum Genet , vol.51 , pp. 741-748
    • Sweeney, M.G.1    Davis, M.B.2    Lashwood, A.3    Brockington, M.4    Toscano, A.5    Harding, A.E.6
  • 36
    • 0026034238 scopus 로고
    • Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7
    • see comments
    • Vilkki J, Ott J, Savontaus ML, Aula P, Nikoskelainen EK. Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7 [see comments]. Am J Hum Genet 1991; 48: 486-91. Comment in: Am J Hum Genet 1991; 49: 692-3.
    • (1991) Am J Hum Genet , vol.48 , pp. 486-491
    • Vilkki, J.1    Ott, J.2    Savontaus, M.L.3    Aula, P.4    Nikoskelainen, E.K.5
  • 37
    • 0026014733 scopus 로고
    • Comment in
    • Vilkki J, Ott J, Savontaus ML, Aula P, Nikoskelainen EK. Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7 [see comments]. Am J Hum Genet 1991; 48: 486-91. Comment in: Am J Hum Genet 1991; 49: 692-3.
    • (1991) Am J Hum Genet , vol.49 , pp. 692-693
  • 38
    • 0013829899 scopus 로고
    • Leber's hereditary optic atrophy: A possible defect of cyanide metabolism
    • Wilson J. Leber's hereditary optic atrophy: a possible defect of cyanide metabolism. Clin Sci 1965; 29: 505-15.
    • (1965) Clin Sci , vol.29 , pp. 505-515
    • Wilson, J.1


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