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Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child

Bibliographic reference Paquay, Stéphanie ; Benoit, Valérie ; Wetzburger, Catherine ; Cordonnier, Monique ; Meire, Françoise ; et. al. Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child. In: Journal of Child Neurology, Vol. 29, no. 8, p. NP18-NP23 (2014)
Permanent URL http://hdl.handle.net/2078.1/143041
  1. Wallace D., Singh G, Lott M., Hodge J., Schurr T., Lezza A., Elsas L., Nikoskelainen E., Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy, 10.1126/science.3201231
  2. Man P Y W, Leber hereditary optic neuropathy, 10.1136/jmg.39.3.162
  3. Meire F. M., Candaele C., Van Coster R., Cochaux P., Obermaier-Kusser B., Martin J.-J., Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations, 10.3109/13816819509059971
  4. Jansen P.H.P., van der Knaap M.S., de Coo I.F.M, Leber's hereditary optic neuropathy with the 11 778 mtDNA mutation and white matter disease resembling multiple sclerosis: clinical, MRI and MRS findings, 10.1016/0022-510x(95)00287-c
  5. Nikoskelainen E K, Marttila R J, Huoponen K, Juvonen V, Lamminen T, Sonninen P, Savontaus M L, Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy., 10.1136/jnnp.59.2.160
  6. McFarland R., Chinnery P. F., Blakely E. L., Schaefer A. M., Morris A.A.M., Foster S. M., Tuppen H. A.L., Ramesh V., Dorman P. J., Turnbull D. M., Taylor R. W., Homoplasmy, heteroplasmy, and mitochondrial dystonia, 10.1212/01.wnl.0000267843.10977.4a
  7. Fruhman Gary, Landsverk Megan L., Lotze Timothy E., Hunter Jill V., Wangler Michael F., Adesina Adekunle M., Wong Lee-Jun C., Scaglia Fernando, Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation, 10.1016/j.ymgme.2011.02.014
  8. Grazina Manuela M., Diogo Luísa M., Garcia Paula C., Silva Eduardo D., Garcia Teresa D., Robalo Conceição B., Oliveira Catarina R., Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation—A case report, 10.1016/j.ejpn.2006.11.015
  9. Funalot Benoît, Reynier Pascal, Vighetto Alain, Ranoux Danièle, Bonnefont Jean-Paul, Godinot Catherine, Malthièry Yves, Mas Jean-Louis, Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy : Leigh-like Encephalopathy, 10.1002/ana.10299
  10. Bu X. D., Rotter J. I., X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation., 10.1073/pnas.88.18.8198
  11. Nakamura M, Invest Ophthalmol Vis Sci, 34, 488 (1993)
  12. Hudson Gavin, Keers Sharon, Man Patrick Yu Wai, Griffiths Philip, Huoponen Kirsi, Savontaus Marja-Liisa, Nikoskelainen Eeva, Zeviani Massimo, Carrara Franco, Horvath Rita, Karcagi Veronika, Spruijt Liesbeth, de Coo I.F.M., Smeets Hubert J.M., Chinnery Patrick F., Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder, 10.1086/498176
  13. Shankar Suma P., Fingert John H., Carelli Valerio, Valentino Maria L., King Terri M., Daiger Stephen P., Salomao Solange R., Berezovsky Adriana, Belfort Rubens, Braun Terri A., Sheffield Val C., Sadun Alfredo A., Stone Edwin M., Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy, 10.1080/13816810701867607
  14. Chalmers RM, Am J Hum Genet, 59, 103 (1996)
  15. Hudson Gavin, Carelli Valerio, Spruijt Liesbeth, Gerards Mike, Mowbray Catherine, Achilli Alessandro, Pyle Angela, Elson Joanna, Howell Neil, La Morgia Chiara, Valentino Maria Lucia, Huoponen Kirsi, Savontaus Marja-Liisa, Nikoskelainen Eeva, Sadun Alfredo A., Salomao Solange R., Belfort Rubens, Griffiths Philip, Man Patrick Yu Wai, de Coo Rene F.M., Horvath Rita, Zeviani Massimo, Smeets Hubert J.T., Torroni Antonio, Chinnery Patrick F., Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background, 10.1086/519394
  16. Kerrison John B, Miller Neil R, Hsu Fang-Chi, Beaty Terri H, Maumenee Irene H, Smith Kyle H, Savino Peter J, Stone Edwin M, Newman Nancy J, A case-control study of tobacco and alcohol consumption in leber hereditary optic neuropathy, 10.1016/s0002-9394(00)00603-6
  17. Kirkman Matthew Anthony, Yu-Wai-Man Patrick, Korsten Alex, Leonhardt Miriam, Dimitriadis Konstantin, De Coo Ireneaus F., Klopstock Thomas, Chinnery Patrick Francis, Gene–environment interactions in Leber hereditary optic neuropathy, 10.1093/brain/awp158
  18. Sanchez Ruben N, Smith Allison J, Carelli Valerio, Sadun Alfredo A, Keltner John L, Leber Hereditary Optic Neuropathy Possibly Triggered by Exposure to Tire Fire : , 10.1097/01.wno.0000249320.27110.ab
  19. Carelli Valerio, Franceschini Flavia, Venturi Silvia, Barboni Piero, Savini Giacomo, Barbieri Giuseppe, Pirro Ettore, La Morgia Chiara, Valentino Maria L., Zanardi Francesca, Violante Francesco S., Mattioli Stefano, Grand Rounds: Could Occupational Exposure to n-Hexane and Other Solvents Precipitate Visual Failure in Leber Hereditary Optic Neuropathy?, 10.1289/ehp.9245
  20. Klopstock Thomas, Yu-Wai-Man Patrick, Dimitriadis Konstantinos, Rouleau Jacinthe, Heck Suzette, Bailie Maura, Atawan Alaa, Chattopadhyay Sandip, Schubert Marion, Garip Aylin, Kernt Marcus, Petraki Diana, Rummey Christian, Leinonen Mika, Metz Günther, Griffiths Philip G., Meier Thomas, Chinnery Patrick F., A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy, 10.1093/brain/awr170
  21. Carelli V., La Morgia C., Valentino M. L., Rizzo G., Carbonelli M., De Negri A. M., Sadun F., Carta A., Guerriero S., Simonelli F., Sadun A. A., Aggarwal D., Liguori R., Avoni P., Baruzzi A., Zeviani M., Montagna P., Barboni P., Idebenone Treatment In Leber's Hereditary Optic Neuropathy, 10.1093/brain/awr180
  22. Klopstock T., Metz G., Yu-Wai-Man P., Büchner B., Gallenmüller C., Bailie M., Nwali N., Griffiths P. G., von Livonius B., Reznicek L., Rouleau J., Coppard N., Meier T., Chinnery P. F., Persistence of the treatment effect of idebenone in Leber’s hereditary optic neuropathy, 10.1093/brain/aws279
  23. Leber Th., Ueber hereditäre und congenital-angelegte Sehnervenleiden, 10.1007/bf01694557
  24. Ceranic B, Progressive auditory neuropathy in patients with Leber's hereditary optic neuropathy, 10.1136/jnnp.2003.017673
  25. Nikoskelainen Eeva K., Leber's Hereditary Optic Neuroretinopathy, a Maternally Inherited Disease : A Genealogic Study in Four Pedigrees, 10.1001/archopht.1987.01060050083043
  26. Sorajja P, Cardiac abnormalities in patients with Leber's hereditary optic neuropathy, 10.1136/heart.89.7.791
  27. NIKOSKELAINEN E, Pre-excitation syndrome in Leber's hereditary optic neuropathy, 10.1016/s0140-6736(94)92830-4
  28. COLE A., Leber's hereditary optic neuropathy and maturity onset diabetes mellitus: is there a metabolic association?, 10.1136/bjo.84.4.439a
  29. Rotig A., Genetic Features of Mitochondrial Respiratory Chain Disorders, 10.1097/01.asn.0000095481.24091.c9
  30. Munnich Arnold, Rustin Pierre, Clinical spectrum and diagnosis of mitochondrial disorders, 10.1002/ajmg.1391
  31. Munnich Arnold, Rötig Agnès, Chretien Dominique, Saudubray JeanMarie, Cormier Valérie, Rustin Pierre, Clinical presentations and laboratory investigations in respiratory chain deficiency, 10.1007/bf02002711
  32. Brown Michael D, The enigmatic relationship between mitochondrial dysfunction and Leber’s hereditary optic neuropathy, 10.1016/s0022-510x(99)00087-8
  33. Tarnopolsky Mark A., Baker Steven K., Myint Tomoko, Maxner C.E., Robitaille J., Robinson Brian H., Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation, 10.1002/ajmg.a.20449
  34. Shoffner John M., Brown Michael D., Stugard Carol, June Albert S., Pollock Stephen, Haas Richard H., Kaufman Allan, Koontz Deborah, Kim Yoon, Graham Jennifer R., Smith Edwin, Dixon John, Wallace Douglas C., Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation, 10.1002/ana.410380207
  35. Kim In-Suk, Ki Chang-Seok, Park Ki-Jong, Pediatric-Onset Dystonia Associated with Bilateral Striatal Necrosis and G14459A Mutation in a Korean Family: A Case Report, 10.3346/jkms.2010.25.1.180
  36. Gropman Andrea, Chen Tian-Jian, Perng Cherng-Lih, Krasnewich Donna, Chernoff Edith, Tifft Cynthia, Wong Lee-Jun C., Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation, 10.1002/ajmg.a.20456
  37. Kirby Denise M., Kahler Stephen G., Freckmann Mary-Louise, Reddihough Dinah, Thorburn David R., Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families, 10.1002/1531-8249(200007)48:1<102::aid-ana15>3.0.co;2-m
  38. Ronchi Dario, Cosi Alessandra, Tonduti Davide, Orcesi Simona, Bordoni Andreina, Fortunato Francesco, Rizzuti Mafalda, Sciacco Monica, Collotta Martina, Cagdas Sophie, Capovilla Giuseppe, Moggio Maurizio, Berardinelli Angela, Veggiotti Pierangelo, Comi Giacomo P, Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: a case report, 10.1186/1471-2377-11-85
  39. Li Ronghua, Qu Jia, Zhou Xiangtian, Tong Yi, Hu Yongwu, Qian Yaping, Lu Fan, Mo Jun Qin, West Constance E., Guan Min-Xin, The mitochondrial tRNAThr A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family, 10.1016/j.gene.2006.02.014
  40. Qu Jia, Li Ronghua, Zhou Xiangtian, Tong Yi, Lu Fan, Qian Yaping, Hu Yongwu, Mo Jun Qin, West Constance E., Guan Min-Xin, The Novel A4435G Mutation in the Mitochondrial tRNAMetMay Modulate the Phenotypic Expression of the LHON-Associated ND4 G11778A Mutation, 10.1167/iovs.05-0665
  41. Carelli Valerio, Rugolo Michela, Sgarbi Gianluca, Ghelli Anna, Zanna Claudia, Baracca Alessandra, Lenaz Giorgio, Napoli Eleonora, Martinuzzi Andrea, Solaini Giancarlo, Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a model of mitochondrial neurodegeneration, 10.1016/j.bbabio.2004.05.009
  42. Battisti C, Cell response to oxidative stress induced apoptosis in patients with Leber's hereditary optic neuropathy, 10.1136/jnnp.2003.024372
  43. Auten Richard L, Davis Jonathan M, Oxygen Toxicity and Reactive Oxygen Species: The Devil Is in the Details, 10.1203/pdr.0b013e3181a9eafb
  44. Potargowicz E, Postepy Hig Med Dosw, 59, 259 (2005)