메뉴 건너뛰기




Volumn 247, Issue 7, 2000, Pages 535-543

Mitochondrial mutations of Leber's hereditary optic neuropathy: A risk factor for multiple sclerosis

Author keywords

Leber's hereditary optic neuropathy; Mitochondrial mutations; Multiple sclerosis

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0033879510     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004150070153     Document Type: Article
Times cited : (63)

References (49)
  • 2
    • 0026702249 scopus 로고
    • Leber's hereditary optic neuropathy: A model for mitochondrial neurodegenerative diseases
    • 2. Brown MD, Voljavec AS, Lott MT, Macdonald I, Wallace DC (1992) Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases. FASEB J 6:2791-2799
    • (1992) FASEB J , vol.6 , pp. 2791-2799
    • Brown, M.D.1    Voljavec, A.S.2    Lott, M.T.3    Macdonald, I.4    Wallace, D.C.5
  • 3
    • 0000136105 scopus 로고
    • The contribution of lhon mitochondrial DNA mutations to multiple sclerosis
    • 3. Carrara F, Eoli M, La Mantia L, Zeviani M (1995) The contribution of LHON mitochondrial DNA mutations to multiple sclerosis. Am J Hum Genet 57:A336
    • (1995) Am J Hum Genet , vol.57
    • Carrara, F.1    Eoli, M.2    La Mantia, L.3    Zeviani, M.4
  • 4
    • 0029969778 scopus 로고    scopus 로고
    • A case-control study of Leber's hereditary optic neuropathy
    • 4. Chalmers RM and Harding AE (1996) A case-control study of Leber's hereditary optic neuropathy. Brain 119:1481-1486
    • (1996) Brain , vol.119 , pp. 1481-1486
    • Chalmers, R.M.1    Harding, A.E.2
  • 6
    • 0029967483 scopus 로고    scopus 로고
    • Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia
    • 6. De Vries DD, 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
    • (1996) Am J Hum Genet , vol.58 , pp. 703-711
    • De Vries, D.D.1    Went, L.N.2    Bruyn, G.W.3    Scholte, H.R.4    Hofstra, R.M.W.5    Bolhuis, P.A.6    Van Oost, B.A.7
  • 7
    • 0029121088 scopus 로고
    • A genetic basis for familial aggregation in multiple sclerosis
    • 7. Ebers GC, Sadovnick AD, Risch NJ, the Canadian Collaborative Study Group (1995) A genetic basis for familial aggregation in multiple sclerosis. Nature 377:150-151
    • (1995) Nature , vol.377 , pp. 150-151
    • Ebers, G.C.1    Sadovnick, A.D.2    Risch, N.J.3
  • 8
    • 0027731794 scopus 로고
    • Association of the 11 778 mitochondrial DNA mutation and demyelinating disease
    • 8. Flanigan KM, Johns DR (1993) Association of the 11 778 mitochondrial DNA mutation and demyelinating disease. Neurology 43:2720-2722
    • (1993) Neurology , vol.43 , pp. 2720-2722
    • Flanigan, K.M.1    Johns, D.R.2
  • 9
    • 0028595987 scopus 로고
    • Leber's hereditary optic neuropathy mitochondrial DNA mutations in childhood multiple sclerosis
    • 9. Hanefeld FA, Ernst BP, Wilichowski E, Christen H-J (1994) Leber's hereditary optic neuropathy mitochondrial DNA mutations in childhood multiple sclerosis. Neuropediatrics 25:331
    • (1994) Neuropediatrics , vol.25 , pp. 331
    • Hanefeld, F.A.1    Ernst, B.P.2    Wilichowski, E.3    Christen, H.-J.4
  • 12
    • 0025897119 scopus 로고
    • Leber hereditary optic neuropathy: Involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation
    • 12. Howell N, Kubacka I, Xu M, McCullough DA (1991) Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. Am J Hum Genet 48:935-942
    • (1991) Am J Hum Genet , vol.48 , pp. 935-942
    • Howell, N.1    Kubacka, I.2    Xu, M.3    McCullough, D.A.4
  • 14
    • 0030048236 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy with the 11 778 mtDNA mutation and white matter disease resembling multiple sclerosis: Clinical, MRI and MRS findings
    • 14. Jansen PHP, van der Knaap MS, de Coo IFM (1996) Leber's hereditary optic neuropathy with the 11 778 mtDNA mutation and white matter disease resembling multiple sclerosis: clinical, MRI and MRS findings. J Neurol Sci 135:176-180
    • (1996) J Neurol Sci , vol.135 , pp. 176-180
    • Jansen, P.H.P.1    Van Der Knaap, M.S.2    De Coo, I.F.M.3
  • 15
    • 0026495869 scopus 로고
    • Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation
    • 15. Johns DR, Smith KH, Miller NR (1992) Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation. Arch Ophthalmol 110:1577-1581
    • (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
    • 16. Johns DR, Heher KL, Miller NR, Smith KH (1993) Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation. Arch Ophthalmol 111:495-498
    • (1993) Arch Ophthalmol , vol.111 , pp. 495-498
    • Johns, D.R.1    Heher, K.L.2    Miller, N.R.3    Smith, K.H.4
  • 17
    • 0029279163 scopus 로고
    • Mitochondrial DNA mutations in multiple sclerosis
    • 17. Kalman B, Lublin FD, Alder H (1995) Mitochondrial DNA mutations in multiple sclerosis. Mult Scler 1:32-36
    • (1995) Mult Scler , vol.1 , pp. 32-36
    • Kalman, B.1    Lublin, F.D.2    Alder, H.3
  • 18
    • 0030247011 scopus 로고    scopus 로고
    • Characterization of the mitochondrial DNA in patients with multiple sclerosis
    • 18. Kalman B, Lublin FD, Alder H (1996) Characterization of the mitochondrial DNA in patients with multiple sclerosis. J Neurol Sci 140:75-89
    • (1996) J Neurol Sci , vol.140 , pp. 75-89
    • Kalman, B.1    Lublin, F.D.2    Alder, H.3
  • 19
    • 0030640474 scopus 로고    scopus 로고
    • Screening for Leber's hereditary optic neuropathy associated mitochondrial DNA mutations in patients with prominent optic neuritis
    • 19. Kalman B, Rodriguez-Valdez JL, Bosch U, Lublin FD (1997) Screening for Leber's hereditary optic neuropathy associated mitochondrial DNA mutations in patients with prominent optic neuritis. Mult Scler 2:279-282
    • (1997) Mult Scler , vol.2 , pp. 279-282
    • Kalman, B.1    Rodriguez-Valdez, J.L.2    Bosch, U.3    Lublin, F.D.4
  • 20
    • 0028337837 scopus 로고
    • Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis
    • 20. 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
    • (1994) Ann Neurol , vol.36 , pp. 109-112
    • Kellar-Wood, H.1    Robertson, N.2    Govan, G.G.3    Compston, D.A.S.4    Harding, A.E.5
  • 22
    • 0000514888 scopus 로고
    • Leber's disease with symptoms resembling disseminated sclerosis
    • 22. Lees F, Macdonald A-ME, Turner WA (1964) Leber's disease with symptoms resembling disseminated sclerosis. J Neurol Neurosurg Psychiatry 27:415-421
    • (1964) J Neurol Neurosurg Psychiatry , vol.27 , pp. 415-421
    • Lees, F.1    A-Me, M.2    Turner, W.A.3
  • 25
    • 0018130271 scopus 로고
    • Charcot-Marie-Tooth disease with Leber optic atrophy
    • 25. McLeod JG, Low PA, Morgan JA (1978) Charcot-Marie-Tooth disease with Leber optic atrophy. Neurology 28:179-184
    • (1978) Neurology , vol.28 , pp. 179-184
    • McLeod, J.G.1    Low, P.A.2    Morgan, J.A.3
  • 26
    • 0029759665 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations in multiple sclerosis patients with severe optic involvement
    • 26. Mayr-Wohlfart U, Paulus C, Henneberg A, Rödel G (1996) Mitochondrial DNA mutations in multiple sclerosis patients with severe optic involvement. Acta Neurol Scand 94:167-171
    • (1996) Acta Neurol Scand , vol.94 , pp. 167-171
    • Mayr-Wohlfart, U.1    Paulus, C.2    Henneberg, A.3    Rödel, G.4
  • 27
    • 0028801062 scopus 로고
    • Neurological disorders in members of families with Leber's Hereditary Optic Neuropathy (LHON) caused by different mitochondrial mutations
    • 27. Meire FM, Van Coster R, Cochaux P, Obermaier-Kusser B, Candaele C, Martin J-J (1995) Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations. Ophthalmic Genet 16:119-126
    • (1995) Ophthalmic Genet , vol.16 , pp. 119-126
    • Meire, F.M.1    Van Coster, R.2    Cochaux, P.3    Obermaier-Kusser, B.4    Candaele, C.5    Martin, J.-J.6
  • 28
    • 0032907984 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy mitochondrial DNA mutations at nucleotides 11 778 and 3460 in multiple sclerosis
    • 28. Mojon DS, Herbert J, Sadiq SA, Miller JR, Madonna M, Hirano M (1999) Leber's hereditary optic neuropathy mitochondrial DNA mutations at nucleotides 11 778 and 3460 in multiple sclerosis. Ophthalmologica 213:171-175
    • (1999) Ophthalmologica , vol.213 , pp. 171-175
    • Mojon, D.S.1    Herbert, J.2    Sadiq, S.A.3    Miller, J.R.4    Madonna, M.5    Hirano, M.6
  • 29
    • 0027180961 scopus 로고
    • Leber's hereditary optic neuropathy. New genetic considerations
    • 29. Newman NJ (1993) Leber's hereditary optic neuropathy. New genetic considerations. Arch Neurol 50:540-548
    • (1993) Arch Neurol , vol.50 , pp. 540-548
    • Newman, N.J.1
  • 30
    • 0025881563 scopus 로고
    • The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11 778 mutation
    • 30. Newman NJ, Lott MT, Wallace DC (1991) The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11 778 mutation. Am J Ophthalmol 111:750-762
    • (1991) Am J Ophthalmol , vol.111 , pp. 750-762
    • Newman, N.J.1    Lott, M.T.2    Wallace, D.C.3
  • 31
    • 0021913432 scopus 로고
    • Pre-excitation syndrome and Leber's hereditary optic neuroretinopathy
    • 31. Nikoskelainen E, Wanne O, Dahl M (1985) Pre-excitation syndrome and Leber's hereditary optic neuroretinopathy. Lancet 1:696
    • (1985) Lancet , vol.1 , pp. 696
    • Nikoskelainen, E.1    Wanne, O.2    Dahl, M.3
  • 34
    • 0029153643 scopus 로고
    • No association of the 11 778 mitochondrial DNA mutation and multiple sclerosis in Japan
    • 34. Nishimura M, Obayashi H, Ohta M, Uchiyama T, Hao Q, Saida T (1995) No association of the 11 778 mitochondrial DNA mutation and multiple sclerosis in Japan. Neurology 45:1333-1334
    • (1995) Neurology , vol.45 , pp. 1333-1334
    • Nishimura, M.1    Obayashi, H.2    Ohta, M.3    Uchiyama, T.4    Hao, Q.5    Saida, T.6
  • 36
    • 0030857647 scopus 로고    scopus 로고
    • New insights into the immunogenetics of multiple sclerosis
    • 36. Oksenberg JR, Hauser SL (1997) New insights into the immunogenetics of multiple sclerosis. Curr Opin Neurol 10:181-185
    • (1997) Curr Opin Neurol , vol.10 , pp. 181-185
    • Oksenberg, J.R.1    Hauser, S.L.2
  • 37
    • 0028957580 scopus 로고
    • Leber's hereditary optic neuropathy associated with a disorder indistinguishable from multiple sclerosis in a male harbouring the mitochondrial DNA 11 778 mutation
    • 37. Olsen NK, Hansen AW, Norby S, Edal AL, Jorgensen JR, Rosenberg T (1995) Leber's hereditary optic neuropathy associated with a disorder indistinguishable from multiple sclerosis in a male harbouring the mitochondrial DNA 11 778 mutation. Acta Neurol Scand 91:326-329
    • (1995) Acta Neurol Scand , vol.91 , pp. 326-329
    • Olsen, N.K.1    Hansen, A.W.2    Norby, S.3    Edal, A.L.4    Jorgensen, J.R.5    Rosenberg, T.6
  • 39
  • 40
    • 0027207688 scopus 로고
    • Central nervous system involvement in Leber's optic neuropathy
    • 40. Paulus W, Straube A, Bauer W, Harding AE (1993) Central nervous system involvement in Leber's optic neuropathy. Neurology 240:251-253
    • (1993) Neurology , vol.240 , pp. 251-253
    • Paulus, W.1    Straube, A.2    Bauer, W.3    Harding, A.E.4
  • 42
    • 0028949749 scopus 로고
    • The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation
    • 42. Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, Da Costa J, Harding AE (1995) The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 118:319-337
    • (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
  • 46
    • 0031011981 scopus 로고    scopus 로고
    • Development of reverse dot-blot system for screening of mitochondrial DNA mutations associated with Leber hereditary optic atrophy
    • 46. Schollen E, Vandenberk P, Cassiman J-J, Matthijs G (1997) Development of reverse dot-blot system for screening of mitochondrial DNA mutations associated with Leber hereditary optic atrophy. Clin Chem 43:18-23
    • (1997) Clin Chem , vol.43 , pp. 18-23
    • Schollen, E.1    Vandenberk, P.2    Cassiman, J.-J.3    Matthijs, G.4
  • 47
    • 0015815660 scopus 로고
    • Ocular fundus in acute Leber optic neuropathy
    • 47. Smith JL, Hoyt WF, Susac JO (1973) Ocular fundus in acute Leber optic neuropathy. Arch Ophthalmol 90:349-354
    • (1973) Arch Ophthalmol , vol.90 , pp. 349-354
    • Smith, J.L.1    Hoyt, W.F.2    Susac, J.O.3
  • 49
    • 0001786616 scopus 로고
    • Leber's hereditary optic atrophy. Some clinical and aetiological considerations
    • 49. Wilson J (1963) Leber's hereditary optic atrophy. Some clinical and aetiological considerations. Brain 86:347-362
    • (1963) Brain , vol.86 , pp. 347-362
    • Wilson, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.