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Volumn 18, Issue 10, 2011, Pages 1318-1324

A novel mitochondrial DNA deletion producing progressive external ophthalmoplegia associated with multiple sclerosis

Author keywords

Mitochondrial disease; Multiple sclerosis; Progressive external ophthalmoplegia

Indexed keywords

MITOCHONDRIAL DNA; MITOCHONDRIAL ENZYME;

EID: 80052090609     PISSN: 09675868     EISSN: 15322653     Source Type: Journal    
DOI: 10.1016/j.jocn.2011.02.019     Document Type: Article
Times cited : (15)

References (40)
  • 1
    • 0036988435 scopus 로고    scopus 로고
    • Mitochondrial disorders of the nervous system: Clinical, biochemical and molecular genetic features
    • A.H. Schapira, Academic Press London
    • D. Thyagarajan, and E. Byrne Mitochondrial disorders of the nervous system: clinical, biochemical and molecular genetic features A.H. Schapira, Mitochondrial function and dysfunction vol 53 2002 Academic Press London 93 144
    • (2002) Mitochondrial Function and Dysfunction , vol.53 , pp. 93-144
    • Thyagarajan, D.1    Byrne, E.2
  • 2
    • 2542541258 scopus 로고    scopus 로고
    • Parent-of-origin effect in multiple sclerosis: Observations in half-siblings
    • DOI 10.1016/S0140-6736(04)16304-6, PII S0140673604163046
    • G.C. Ebers, A.D. Sadovnick, and D.A. Dyment Parent-of-origin effect in multiple sclerosis: observations in half-siblings Lancet 363 2004 1773 1774 (Pubitemid 38698382)
    • (2004) Lancet , vol.363 , Issue.9423 , pp. 1773-1774
    • Ebers, G.C.1    Sadovnick, A.D.2    Dyment, D.A.3    Yee, I.M.L.4    Willer, C.J.5    Risch, N.6
  • 4
    • 57349130113 scopus 로고    scopus 로고
    • A mitochondrial etiology of neurodegenerative diseases: Evidence from Parkinson's disease
    • E. Khusnutdinova, I. Gilyazova, and E. Ruiz-Pesini A mitochondrial etiology of neurodegenerative diseases: evidence from Parkinson's disease Ann N Y Acad Sci 1147 2008 1 20
    • (2008) Ann N y Acad Sci , vol.1147 , pp. 1-20
    • Khusnutdinova, E.1    Gilyazova, I.2    Ruiz-Pesini, E.3
  • 6
    • 2542509663 scopus 로고    scopus 로고
    • A multiple sclerosis-like illness in a man harboring the mtDNA 14484 mutation
    • M.T. Bhatti, and N.J. Newman A multiple sclerosis-like illness in a man harboring the mtDNA 14484 mutation J Neuroophthalmol 19 1999 28 33 (Pubitemid 30249281)
    • (1999) Journal of Neuro-Ophthalmology , vol.19 , Issue.1 , pp. 28-33
    • Tariq Bhatti, M.1    Newman, N.J.2
  • 11
    • 0032907984 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy mitochondrial DNA mutations at nucleotides 11778 and 3460 in multiple sclerosis
    • D.S. Mojon, J. Herbert, and S.A. Sadiq Leber's hereditary optic neuropathy mitochondrial DNA mutations at nucleotides 11778 and 3460 in multiple sclerosis Ophthalmologica 213 1999 171 175 (Pubitemid 29192933)
    • (1999) Ophthalmologica , vol.213 , Issue.3 , pp. 171-175
    • Mojon, D.S.1    Herbert, J.2    Sadiq, S.A.3    Miller, J.R.4    Madonna, M.5    Hirano, M.6
  • 12
    • 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
    • N.K. Olsen, A.W. Hansen, and S. Norby 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 91 1995 326 329
    • (1995) Acta Neurol Scand , vol.91 , pp. 326-329
    • Olsen, N.K.1    Hansen, A.W.2    Norby, S.3
  • 13
    • 41449096788 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy associated with multiple sclerosis: Harding's syndrome
    • DOI 10.1136/jnnp.2007.139360
    • A.R. Parry-Jones, J.D. Mitchell, and W.J. Gunarwardena Leber's hereditary optic neuropathy associated with multiple sclerosis: Harding's syndrome Pract Neurol 8 2008 118 121 (Pubitemid 351454673)
    • (2008) Practical Neurology , vol.8 , Issue.2 , pp. 118-121
    • Parry-Jones, A.R.1    Mitchell, J.D.2    Gunarwardena, W.J.3    Shaunak, S.4
  • 15
    • 0034810578 scopus 로고    scopus 로고
    • Leber hereditary optic neuropathy, progressive visual loss, and multiple-sclerosis-like symptoms
    • DOI 10.1016/S0002-9394(01)01045-5, PII S0002939401010455
    • M. Tran, R. Bhargava, and I.M. MacDonald Leber hereditary optic neuropathy, progressive visual loss, and multiple-sclerosis-like symptoms Am J Ophthalmol 132 2001 591 593 (Pubitemid 32904594)
    • (2001) American Journal of Ophthalmology , vol.132 , Issue.4 , pp. 591-593
    • Tran, M.1    Bhargava, R.2    MacDonald, I.M.3
  • 16
    • 0033879510 scopus 로고    scopus 로고
    • Mitochondrial mutations of Leber's hereditary optic neuropathy: A risk factor for multiple sclerosis
    • L. Vanopdenbosch, B. Dubois, and M.B. D'Hooghe Mitochondrial mutations of Leber's hereditary optic neuropathy: a risk factor for multiple sclerosis J Neurol 247 2000 535 543 (Pubitemid 30598881)
    • (2000) Journal of Neurology , vol.247 , Issue.7 , pp. 535-543
    • Vanopdenbosch, L.1    Dubois, B.2    D'Hooghe, M.-B.3    Meire, F.4    Carton, H.5
  • 18
    • 51449098994 scopus 로고    scopus 로고
    • Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility
    • M. Ban, J. Elson, and A. Walton Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility PLoS ONE 3 2008 e2891
    • (2008) PLoS ONE , vol.3 , pp. 2891
    • Ban, M.1    Elson, J.2    Walton, A.3
  • 20
    • 45349109162 scopus 로고    scopus 로고
    • MtDNA nt13708A variant increases the risk of multiple sclerosis
    • X. Yu, D. Koczan, and A.M. Sulonen MtDNA nt13708A variant increases the risk of multiple sclerosis PLoS ONE 3 2008 e1530
    • (2008) PLoS ONE , vol.3 , pp. 1530
    • Yu, X.1    Koczan, D.2    Sulonen, A.M.3
  • 21
    • 0036785956 scopus 로고    scopus 로고
    • Visual recovery in a man with the rare combination of mtDNA 11778 LHON mutation and a MS-like disease after mitoxantrone therapy
    • C. Buhmann, J. Gbadamosi, and C. Heesen Visual recovery in a man with the rare combination of mtDNA 11778 LHON mutation and a MS-like disease after mitoxantrone therapy Acta Neurol Scand 106 2002 236 239
    • (2002) Acta Neurol Scand , vol.106 , pp. 236-239
    • Buhmann, C.1    Gbadamosi, J.2    Heesen, C.3
  • 22
    • 37849041001 scopus 로고    scopus 로고
    • Differential cerebro spinal fluid proteome investigation of Leber hereditary optic neuropathy (LHON) and multiple sclerosis
    • S. D'Aguanno, A. Barassi, and S. Lupisella Differential cerebro spinal fluid proteome investigation of Leber hereditary optic neuropathy (LHON) and multiple sclerosis J Neuroimmunol 193 2008 156 160
    • (2008) J Neuroimmunol , vol.193 , pp. 156-160
    • D'Aguanno, S.1    Barassi, A.2    Lupisella, S.3
  • 23
    • 0035404936 scopus 로고    scopus 로고
    • Leber hereditary optic neuropathy: Clinical and molecular genetic findings
    • DOI 10.1007/s100480100115
    • K. Huoponen Leber hereditary optic neuropathy: clinical and molecular genetic findings Neurogenetics 3 2001 119 125 (Pubitemid 33739050)
    • (2001) Neurogenetics , vol.3 , Issue.3 , pp. 119-125
    • Huoponen, K.1
  • 24
    • 0035657392 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy mutations in Korean patients with multiple sclerosis
    • DOI 10.1159/000050896
    • J.M. Hwang, B.L. Chang, and S.S. Park Leber's hereditary optic neuropathy mutations in Korean patients with multiple sclerosis Ophthalmologica 215 2001 398 400 (Pubitemid 34008783)
    • (2001) Ophthalmologica , vol.215 , Issue.6 , pp. 398-400
    • Hwang, J.-M.1    Chang, B.L.2    Park, S.S.3
  • 25
    • 1542682745 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy (LHON) with mutation at G3460A and MS-like phenotype
    • Z. Jamrozik, A. Tutaj, and B. Piechowski-Jozwiak Leber's hereditary optic neuropathy (LHON) with mutation at G3460A and MS-like phenotype Neurol Neurochir Pol 37 2003 713 720
    • (2003) Neurol Neurochir Pol , vol.37 , pp. 713-720
    • Jamrozik, Z.1    Tutaj, A.2    Piechowski-Jozwiak, B.3
  • 26
    • 34247092379 scopus 로고    scopus 로고
    • White matter changes in Leber's hereditary optic neuropathy: MRI findings
    • DOI 10.1111/j.1468-1331.2007.01757.x
    • W. Kuker, A. Weir, and G. Quaghebeur White matter changes in Leber's hereditary optic neuropathy: MRI findings Eur J Neurol 14 2007 591 593 (Pubitemid 46587846)
    • (2007) European Journal of Neurology , vol.14 , Issue.5 , pp. 591-593
    • Kuker, W.1    Weir, A.2    Quaghebeur, G.3    Palace, J.4
  • 27
    • 57549087036 scopus 로고    scopus 로고
    • Leber's optic neuropathy associated with disseminated white matter disease: A case report and review
    • F. Perez, O. Anne, and S. Debruxelles Leber's optic neuropathy associated with disseminated white matter disease: a case report and review Clin Neurol Neurosurg 111 2009 83 86
    • (2009) Clin Neurol Neurosurg , vol.111 , pp. 83-86
    • Perez, F.1    Anne, O.2    Debruxelles, S.3
  • 29
    • 0023813744 scopus 로고
    • Deletions of mitochondrial DNA in Kearns-Sayre syndrome
    • M. Zeviani, C.T. Moraes, and S. DiMauro Deletions of mitochondrial DNA in Kearns-Sayre syndrome Neurology 38 1988 1339 1346
    • (1988) Neurology , vol.38 , pp. 1339-1346
    • Zeviani, M.1    Moraes, C.T.2    Dimauro, S.3
  • 31
    • 0026484964 scopus 로고
    • Platelet mitochondrial function in Parkinson's disease. The Royal Kings and Queens Parkinson Disease Research Group
    • D. Krige, M.T. Carroll, and J.M. Cooper Platelet mitochondrial function in Parkinson's disease. The Royal Kings and Queens Parkinson Disease Research Group Ann Neurol 32 1992 782 788
    • (1992) Ann Neurol , vol.32 , pp. 782-788
    • Krige, D.1    Carroll, M.T.2    Cooper, J.M.3
  • 32
    • 0029964226 scopus 로고    scopus 로고
    • Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and trans-mitochondrial cell lines
    • G. Attardi, Academic press
    • I. Trounce, Y. Kim, and A. Jun Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and trans-mitochondrial cell lines G. Attardi, Methods in enzymology: Part B: Mitochondrial biogenesis and genetics 1996 Academic press 484 509
    • (1996) Methods in Enzymology: Part B: Mitochondrial Biogenesis and Genetics , pp. 484-509
    • Trounce, I.1    Kim, Y.2    Jun, A.3
  • 33
    • 12544255068 scopus 로고    scopus 로고
    • The mitochondrial membrane potential in human platelets: A sensitive parameter for platelet quality
    • A.J. Verhoeven, R. Verhaar, and E.G. Gouwerok The mitochondrial membrane potential in human platelets: a sensitive parameter for platelet quality Transfusion 45 2005 82 89
    • (2005) Transfusion , vol.45 , pp. 82-89
    • Verhoeven, A.J.1    Verhaar, R.2    Gouwerok, E.G.3
  • 35
    • 0034176843 scopus 로고    scopus 로고
    • Mitochondrial membrane potential and neuronal glutamate excitotoxicity: Mortality and millivolts
    • DOI 10.1016/S0166-2236(99)01534-9, PII S0166223699015349
    • D.G. Nicholls, and M.W. Ward Mitochondrial membrane potential and neuronal glutamate excitotoxicity: mortality and millivolts Trends Neurosci 23 2000 166 174 (Pubitemid 30151213)
    • (2000) Trends in Neurosciences , vol.23 , Issue.4 , pp. 166-174
    • Nicholls, D.G.1    Ward, M.W.2
  • 36
    • 59049097778 scopus 로고    scopus 로고
    • Respiratory complex i dysfunction due to mitochondrial DNA mutations shifts the voltage threshold for opening of the permeability transition pore toward resting levels
    • A.M. Porcelli, A. Angelin, and A. Ghelli Respiratory complex I dysfunction due to mitochondrial DNA mutations shifts the voltage threshold for opening of the permeability transition pore toward resting levels J Biol Chem 284 2009 2045 2052
    • (2009) J Biol Chem , vol.284 , pp. 2045-2052
    • Porcelli, A.M.1    Angelin, A.2    Ghelli, A.3
  • 37
    • 34548633861 scopus 로고    scopus 로고
    • Primary-progressive multiple sclerosis
    • DOI 10.1016/S1474-4422(07)70243-0, PII S1474442207702430
    • D.H. Miller, and S.M. Leary Primary-progressive multiple sclerosis Lancet Neurol 6 2007 903 912 (Pubitemid 47405002)
    • (2007) Lancet Neurology , vol.6 , Issue.10 , pp. 903-912
    • Miller, D.H.1    Leary, S.M.2
  • 38
    • 0034283541 scopus 로고    scopus 로고
    • Kearns-sayre syndrome: Oncocytic transformation of choroid plexus epithelium
    • K. Tanji, E.A. Schon, and S. DiMauro Kearns-sayre syndrome: oncocytic transformation of choroid plexus epithelium J Neurol Sci 178 2000 29 36
    • (2000) J Neurol Sci , vol.178 , pp. 29-36
    • Tanji, K.1    Schon, E.A.2    Dimauro, S.3
  • 39


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