메뉴 건너뛰기




Volumn 140, Issue 3, 2005, Pages 517.e1-517.e9

Hereditary optic neuropathies: From the mitochondria to the optic nerve

Author keywords

[No Author keywords available]

Indexed keywords

ANTIOXIDANT; NEUROPROTECTIVE AGENT; RECOMBINANT DNA;

EID: 24044520785     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2005.03.017     Document Type: Article
Times cited : (165)

References (49)
  • 1
    • 33745864221 scopus 로고    scopus 로고
    • Hereditary optic neuropathies
    • N.R. Miller N.J. Newman V. Biousse J.B. Kerrison 6th ed. Lippincott Williams & Wilkins Baltimore
    • N.J. Newman Hereditary optic neuropathies N.R. Miller N.J. Newman V. Biousse J.B. Kerrison 6th ed. Walsh & Hoyt clinical neuro-ophthalmology Volume 1 2005 Lippincott Williams & Wilkins Baltimore 465 501
    • (2005) Walsh & Hoyt Clinical Neuro-ophthalmology , vol.1 , pp. 465-501
    • Newman, N.J.1
  • 2
    • 9944238788 scopus 로고    scopus 로고
    • Hereditary optic neuropathies
    • N.J. Newman, V. Biousse Hereditary optic neuropathies Eye 18 2004 1144 1160
    • (2004) Eye , vol.18 , pp. 1144-1160
    • Newman, N.J.1    Biousse, V.2
  • 3
    • 0024242545 scopus 로고
    • Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
    • D.C. Wallace, G. Singh, M.T. Lott Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy Science 242 1988 1427 1430
    • (1988) Science , vol.242 , pp. 1427-1430
    • Wallace, D.C.1    Singh, G.2    Lott, M.T.3
  • 4
    • 0025881563 scopus 로고
    • The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation
    • N.J. Newman, M.T. Lott, D.C. Wallace The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation Am J Ophthalmol 111 1991 750 762
    • (1991) Am J Ophthalmol , vol.111 , pp. 750-762
    • Newman, N.J.1    Lott, M.T.2    Wallace, D.C.3
  • 5
    • 0026989344 scopus 로고
    • Leber hereditary optic neuropathy in Australia
    • D. Mackey, R.G. Buttery Leber hereditary optic neuropathy in Australia Aust N Z J Ophthalmol 20 1992 177 184
    • (1992) Aust N Z J Ophthalmol , vol.20 , pp. 177-184
    • MacKey, D.1    Buttery, R.G.2
  • 6
    • 0028949749 scopus 로고
    • The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation
    • P. Riordan-Eva, M.D. Sanders, G.G. Govan, M.C. Sweeney, J. DaCosta, A.E. Harding The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation Brain 118 1995 319 337
    • (1995) Brain , vol.118 , pp. 319-337
    • Riordan-Eva, P.1    Sanders, M.D.2    Govan, G.G.3    Sweeney, M.C.4    Dacosta, J.5    Harding, A.E.6
  • 7
    • 0028944623 scopus 로고
    • Clinical features of Japanese Leber's hereditary optic neuropathy with 11778 mutation of mitochondrial DNA
    • Y. Hotta, K. Fujiki, M. Hayakawa Clinical features of Japanese Leber's hereditary optic neuropathy with 11778 mutation of mitochondrial DNA Jpn J Ophthalmol 39 1995 96 108
    • (1995) Jpn J Ophthalmol , vol.39 , pp. 96-108
    • Hotta, Y.1    Fujiki, K.2    Hayakawa, M.3
  • 10
    • 0842281697 scopus 로고    scopus 로고
    • Mitochondrial dysfunction as a cause of optic neuropathies
    • V. Carelli, F. Ross-Cisneros, A. Sadun Mitochondrial dysfunction as a cause of optic neuropathies Prog Ret Eye Res 23 2004 53 89
    • (2004) Prog Ret Eye Res , vol.23 , pp. 53-89
    • Carelli, V.1    Ross-Cisneros, F.2    Sadun, A.3
  • 11
    • 0037322524 scopus 로고    scopus 로고
    • The epidemiology of Leber hereditary optic neuropathy in the northeast of England
    • P.Y.W. Man, P.G. Griffiths, D.T. Brown The epidemiology of Leber hereditary optic neuropathy in the northeast of England Am J Hum Genet 72 2003 333 339
    • (2003) Am J Hum Genet , vol.72 , pp. 333-339
    • Man, P.Y.W.1    Griffiths, P.G.2    Brown, D.T.3
  • 12
    • 0001071347 scopus 로고
    • Epidemiology of Leber's hereditary optic neuropathy in Australia
    • D.A. Mackey Epidemiology of Leber's hereditary optic neuropathy in Australia Clin Neurosci 2 1994 162 164
    • (1994) Clin Neurosci , vol.2 , pp. 162-164
    • MacKey, D.A.1
  • 13
    • 0008646419 scopus 로고
    • Leber's disease in the Netherlands
    • A.H.C. Van Senus Leber's disease in the Netherlands Doc Ophthalmol 17 1963 1 163
    • (1963) Doc Ophthalmol , vol.17 , pp. 1-163
    • Van Senus, A.H.C.1
  • 14
    • 0015815660 scopus 로고
    • Ocular fundus in acute Leber optic neuropathy
    • J.L. Smith, W.F. Hoyt, J.O. Susac Ocular fundus in acute Leber optic neuropathy Arch Ophthalmol 90 1973 349 354
    • (1973) Arch Ophthalmol , vol.90 , pp. 349-354
    • Smith, J.L.1    Hoyt, W.F.2    Susac, J.O.3
  • 17
    • 0026782507 scopus 로고
    • Occurrance of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation
    • A.E. Harding, M.G. Sweeney, D.H. Miller Occurrance of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation Brain 115 1992 979 989
    • (1992) Brain , vol.115 , pp. 979-989
    • Harding, A.E.1    Sweeney, M.G.2    Miller, D.H.3
  • 18
    • 2542509663 scopus 로고    scopus 로고
    • A multiple sclerosis-like illness in a man harboring the mtDNA 14484 mutation
    • M.T. Bhatti, N.J. Newman A multiple sclerosis-like illness in a man harboring the mtDNA 14484 mutation J Neuro-ophthalmol 19 1999 28 33
    • (1999) J Neuro-ophthalmol , vol.19 , pp. 28-33
    • Bhatti, M.T.1    Newman, N.J.2
  • 19
    • 0036895724 scopus 로고    scopus 로고
    • From genotype to phenotype in Leber hereditary optic neuropathy: Still more questions than answers
    • N.J. Newman From genotype to phenotype in Leber hereditary optic neuropathy still more questions than answers J Neuro-ophthalmol 22 2002 257 261
    • (2002) J Neuro-ophthalmol , vol.22 , pp. 257-261
    • Newman, N.J.1
  • 20
    • 0037972522 scopus 로고    scopus 로고
    • Mitochondrial respiratory-chain diseases
    • S. DiMauro, E.A. Schon Mitochondrial respiratory-chain diseases N Engl J Med 348 2003 2656 2668
    • (2003) N Engl J Med , vol.348 , pp. 2656-2668
    • Dimauro, S.1    Schon, E.A.2
  • 21
    • 0037321655 scopus 로고    scopus 로고
    • Neuro-ophthalmology of mitochondrial disorders
    • V. Biousse, N.J. Newman Neuro-ophthalmology of mitochondrial disorders Curr Opin Neurol 16 2003 35 43
    • (2003) Curr Opin Neurol , vol.16 , pp. 35-43
    • Biousse, V.1    Newman, N.J.2
  • 22
    • 0042850443 scopus 로고    scopus 로고
    • Extensive investigation of a large Brazilian pedigree with 11778/haplogroup J Leber hereditary optic neuropathy
    • A.A. Sadun, V. Carelli, S.R. Salomao Extensive investigation of a large Brazilian pedigree with 11778/haplogroup J Leber hereditary optic neuropathy Am J Ophthalmol 136 2003 231 238
    • (2003) Am J Ophthalmol , vol.136 , pp. 231-238
    • Sadun, A.A.1    Carelli, V.2    Salomao, S.R.3
  • 23
    • 0034536967 scopus 로고    scopus 로고
    • A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy
    • J.B. Kerrison, N.R. Miller, F.-C. Hsu A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy Am J Ophthalmol 130 2000 803 812
    • (2000) Am J Ophthalmol , vol.130 , pp. 803-812
    • Kerrison, J.B.1    Miller, N.R.2    Hsu, F.-C.3
  • 24
    • 0037310673 scopus 로고    scopus 로고
    • Suppression of complex I gene expression induces optic neuropathy
    • X. Qi, A.S. Lewin, W.W. Hauswirth Suppression of complex I gene expression induces optic neuropathy Ann Neurol 53 2003 198 205
    • (2003) Ann Neurol , vol.53 , pp. 198-205
    • Qi, X.1    Lewin, A.S.2    Hauswirth, W.W.3
  • 25
    • 0029924084 scopus 로고    scopus 로고
    • Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects
    • B. Kjer, H. Eiberg, P. Kjer, T. Rosenberg Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects Acta Ophthal Scand 74 1996 3 7
    • (1996) Acta Ophthal Scand , vol.74 , pp. 3-7
    • Kjer, B.1    Eiberg, H.2    Kjer, P.3    Rosenberg, T.4
  • 27
    • 7544246760 scopus 로고    scopus 로고
    • Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: A syndrome caused by a missense mutation in OPA1
    • M. Payne, Z. Yang, B.J. Katz Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia a syndrome caused by a missense mutation in OPA1 Am J Ophthalmol 138 2004 749 755
    • (2004) Am J Ophthalmol , vol.138 , pp. 749-755
    • Payne, M.1    Yang, Z.2    Katz, B.J.3
  • 30
    • 0037424239 scopus 로고    scopus 로고
    • Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis
    • A. Olichon, L. Baricault, N. Gas Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis J Biol Chem 278 2003 7743 7746
    • (2003) J Biol Chem , vol.278 , pp. 7743-7746
    • Olichon, A.1    Baricault, L.2    Gas, N.3
  • 31
    • 0037309937 scopus 로고    scopus 로고
    • The phenotype of normal tension glaucoma patients with and without OPA1 polymorphisms
    • T. Aung, K. Okada, D. Poinoosawmy The phenotype of normal tension glaucoma patients with and without OPA1 polymorphisms Br J Ophthalmol 87 2003 49 152
    • (2003) Br J Ophthalmol , vol.87 , pp. 49-152
    • Aung, T.1    Okada, K.2    Poinoosawmy, D.3
  • 32
    • 0028808309 scopus 로고
    • Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome
    • T.G. Barrett, S.E. Bundley, A.F. Macleod Neurodegeneration and diabetes UK nationwide study of Wolfram (DIDMOAD) syndrome Lancet 346 1995 1458 1463
    • (1995) Lancet , vol.346 , pp. 1458-1463
    • Barrett, T.G.1    Bundley, S.E.2    MacLeod, A.F.3
  • 33
  • 34
    • 0030826078 scopus 로고    scopus 로고
    • Wolfram (DIDMOAD) syndrome
    • T.G. Barrett, S.E. Bundey Wolfram (DIDMOAD) syndrome J Med Genet 34 1997 838 841
    • (1997) J Med Genet , vol.34 , pp. 838-841
    • Barrett, T.G.1    Bundey, S.E.2
  • 36
    • 0028038337 scopus 로고
    • Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4
    • M.H. Polymeropoulos, R.G. Swift, M. Swift Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4 Nature Genet 8 1994 95
    • (1994) Nature Genet , vol.8 , pp. 95
    • Polymeropoulos, M.H.1    Swift, R.G.2    Swift, M.3
  • 37
    • 0037544012 scopus 로고    scopus 로고
    • Molecular characterization of WFS1 in patients with Wolfram syndrome
    • J.M. Van Den Ouweland, K. Cryns, R.J. Pennings Molecular characterization of WFS1 in patients with Wolfram syndrome J Mol Diagn 5 2003 88 95
    • (2003) J Mol Diagn , vol.5 , pp. 88-95
    • Van Den Ouweland, J.M.1    Cryns, K.2    Pennings, R.J.3
  • 38
    • 13344260008 scopus 로고    scopus 로고
    • A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome
    • A. Barrientos, V. Volpini, J. Casademont A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome J Clin Invest 97 1996 1570 1576
    • (1996) J Clin Invest , vol.97 , pp. 1570-1576
    • Barrientos, A.1    Volpini, V.2    Casademont, J.3
  • 39
    • 0031024138 scopus 로고    scopus 로고
    • Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes
    • S. Hofmann, R. Bezold, M. Jaksch Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes Genomics 39 1997 8 18
    • (1997) Genomics , vol.39 , pp. 8-18
    • Hofmann, S.1    Bezold, R.2    Jaksch, M.3
  • 40
    • 0036897160 scopus 로고    scopus 로고
    • Practical approaches to neurogenetic disease
    • D.R. Lynch, J. Farmer Practical approaches to neurogenetic disease J Neuro-ophthalmol 22 2002 297 304
    • (2002) J Neuro-ophthalmol , vol.22 , pp. 297-304
    • Lynch, D.R.1    Farmer, J.2
  • 41
    • 84975519745 scopus 로고    scopus 로고
    • Visual loss and recovery in a patient with Friedreich ataxia
    • S.J. Givre, M. Wall, R.H. Kardon Visual loss and recovery in a patient with Friedreich ataxia J Neuro-ophthalmol 20 2000 229 233
    • (2000) J Neuro-ophthalmol , vol.20 , pp. 229-233
    • Givre, S.J.1    Wall, M.2    Kardon, R.H.3
  • 42
    • 0031044375 scopus 로고    scopus 로고
    • Ocular changes in patients with spinocerebellar degeneration and repeated trinucleotide expansion of spinocerebellar ataxia type 1 gene
    • T. Abe, K. Abe, M. Aoki, Y. Itoyama, M. Tamai Ocular changes in patients with spinocerebellar degeneration and repeated trinucleotide expansion of spinocerebellar ataxia type 1 gene Arch Ophthalmol 115 1997 231 236
    • (1997) Arch Ophthalmol , vol.115 , pp. 231-236
    • Abe, T.1    Abe, K.2    Aoki, M.3    Itoyama, Y.4    Tamai, M.5
  • 43
    • 0037005365 scopus 로고    scopus 로고
    • Clinical features and molecular genetics of hereditary peripheral neuropathies
    • G. Kuhlenbaumer, P. Young, G. Hunermund, B. Ringelstein, F. Stogbauer Clinical features and molecular genetics of hereditary peripheral neuropathies J Neurol 249 2002 1629 1650
    • (2002) J Neurol , vol.249 , pp. 1629-1650
    • Kuhlenbaumer, G.1    Young, P.2    Hunermund, G.3    Ringelstein, B.4    Stogbauer, F.5
  • 44
    • 0030026084 scopus 로고    scopus 로고
    • Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy
    • R.M. Chalmers, A.C. Bird, A.E. Harding Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy J Neurol Neurosurg Psychiatry 60 1996 195 196
    • (1996) J Neurol Neurosurg Psychiatry , vol.60 , pp. 195-196
    • Chalmers, R.M.1    Bird, A.C.2    Harding, A.E.3
  • 45
    • 0030969058 scopus 로고    scopus 로고
    • Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy
    • R.M. Chalmers, P. Riordan-Eva, N.W. Wood Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy J Neurol Neurosurg Psychiatry 62 1997 385 387
    • (1997) J Neurol Neurosurg Psychiatry , vol.62 , pp. 385-387
    • Chalmers, R.M.1    Riordan-Eva, P.2    Wood, N.W.3
  • 46
    • 84975452084 scopus 로고    scopus 로고
    • Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy?
    • Y. Mashima, K. Kigasawa, M. Wakakura Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy? J Neuro-ophthalmol 20 2000 166 170
    • (2000) J Neuro-ophthalmol , vol.20 , pp. 166-170
    • Mashima, Y.1    Kigasawa, K.2    Wakakura, M.3
  • 47
    • 24044492019 scopus 로고    scopus 로고
    • Prophylaxis for second eye involvement in Leber's hereditary optic neuropathy: An open-labeled, nonrandomized multicenter trial of topical brimonidine purite
    • N.J. Newman, V. Biousse, R. David Prophylaxis for second eye involvement in Leber's hereditary optic neuropathy an open-labeled, nonrandomized multicenter trial of topical brimonidine purite Am J Ophthalmol 140 2005 407 415
    • (2005) Am J Ophthalmol , vol.140 , pp. 407-415
    • Newman, N.J.1    Biousse, V.2    David, R.3
  • 48
    • 0036830565 scopus 로고    scopus 로고
    • Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy
    • J. Guy, X. Qi, F. Pallotti Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy Ann Neurol 52 2002 534 542
    • (2002) Ann Neurol , vol.52 , pp. 534-542
    • Guy, J.1    Qi, X.2    Pallotti, F.3
  • 49
    • 3843127507 scopus 로고    scopus 로고
    • SOD2 gene transfer protects against optic neuropathy induced by deficiency of complex I
    • X. Qi, A.S. Lewin, L. Sun, W.W. Hauswirth, J. Guy SOD2 gene transfer protects against optic neuropathy induced by deficiency of complex I Ann Neurol 56 2004 182 191
    • (2004) Ann Neurol , vol.56 , pp. 182-191
    • Qi, X.1    Lewin, A.S.2    Sun, L.3    Hauswirth, W.W.4    Guy, J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.