Clinical Neurology and Neurosurgery
Volume 111, Issue 1 , Pages 83-86 , January 2009

Leber’s optic neuropathy associated with disseminated white matter disease: A case report and review

  • F. Perez

      Affiliations

    • CHU Bordeaux, Fédération des Neurosciences Cliniques, Hôpital Pellegrin, 33076 Bordeaux, France
    • ,
  • O. Anne

      Affiliations

    • Département de Neurologie, CHR de la Rochelle, 17019 La Rochelle, France
    • ,
  • S. Debruxelles

      Affiliations

    • CHU Bordeaux, Fédération des Neurosciences Cliniques, Hôpital Pellegrin, 33076 Bordeaux, France
    • ,
  • P. Menegon

      Affiliations

    • CHU Bordeaux, Service de Neuroradiologie, Hôpital Pellegrin, 33076 Bordeaux, France
    • ,
  • V. Lambrecq

      Affiliations

    • CHU Bordeaux, Fédération des Neurosciences Cliniques, Hôpital Pellegrin, 33076 Bordeaux, France
    • ,
  • D. Lacombe

      Affiliations

    • CHU Bordeaux, Service de Génétique Médicale, Hôpital Pellegrin-enfants, 33076 Bordeaux, France
    • Université Victor Segalen Bordeaux 2, Laboratoire de Génétique Humaine, 33076 Bordeaux, France
    • ,
  • M.L. Martin-Negrier

      Affiliations

    • CHU Bordeaux, Département de Neuropathologie, Hôpital Pellegrin, 33076 Bordeaux, France
    • ,
  • B. Brochet

      Affiliations

    • CHU Bordeaux, Fédération des Neurosciences Cliniques, Hôpital Pellegrin, 33076 Bordeaux, France
    • ,
  • C. Goizet

      Affiliations

    • CHU Bordeaux, Fédération des Neurosciences Cliniques, Hôpital Pellegrin, 33076 Bordeaux, France
    • CHU Bordeaux, Service de Génétique Médicale, Hôpital Pellegrin-enfants, 33076 Bordeaux, France
    • Université Victor Segalen Bordeaux 2, Laboratoire de Génétique Humaine, 33076 Bordeaux, France
    • Corresponding Author InformationCorresponding author at: Laboratoire de Génétique Humaine, Université Victor Segalen Bordeaux 2, 33076 Bordeaux cedex, France. Tel.: +33 661523665.

Received 23 January 2008 ,Revised 24 June 2008 ,Accepted 30 June 2008.

References 

  1. Man PY, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy. J Med Genet. 2002;39:162–169
  2. Harding AE, Sweeney MG, Govan GG, Riordan-Eva P. Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. Am J Hum Genet. 1995;57:77–86
  3. 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’s hereditary optic neuropathy mitochondrial DNA mutation. Brain. 1992;115(Pt 4):979–989
  4. Buhmann C, Gbadamosi J, Heesen C. 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. 2002;106:236–239
  5. Cortelli P, Montagna P, Pierangeli G, Lodi R, Barboni P, Liguori R, et al. Clinical and brain bioenergetics improvement with idebenone in a patient with Leber’s hereditary optic neuropathy: a clinical and 31P-MRS study. J Neurol Sci. 1997;148:25–31
  6. Chinnery PF, Andrews RM, Turnbull DM, Howell NN. Leber hereditary optic neuropathy: does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?. Am J Med Genet. 2001;98:235–243
  7. Howell N. Leber hereditary optic neuropathy: respiratory chain dysfunction and degeneration of the optic nerve. Vision Res. 1998;38:1495–1504
  8. Jansen PH, van der Knaap MS, de Coo IF. 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. 1996;135:176–180
  9. Huang CC, Kuo HC, Chu CC, Kao LY. Rapid visual recovery after coenzyme q10 treatment of Leber hereditary optic neuropathy. J Neuroophthalmol. 2002;22:66
  10. Kovacs GG, Hoftberger R, Majtenyi K, Horvath R, Barsi P, Komoly S, et al. Neuropathology of white matter disease in Leber’s hereditary optic neuropathy. Brain. 2005;128:35–41
  11. Floreani M, Napoli E, Martinuzzi A, Pantano G, De Riva V, Trevisan R, et al. Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber’s hereditary optic neuropathy. FEBS J. 2005;272:1124–1135
  12. Boullerne AI, Rodriguez JJ, Touil T, Brochet B, Schmidt S, Abrous ND, et al. Anti-S-nitrosocysteine antibodies are a predictive marker for demyelination in experimental autoimmune encephalomyelitis: implications for multiple sclerosis. J Neurosci. 2002;22:123–132
  13. Olsen NK, Hansen AW, Norby S, Edal AL, Jorgensen 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;91:326–329
  14. Ceranic B, Luxon LM. Progressive auditory neuropathy in patients with Leber’s hereditary optic neuropathy. J Neurol Neurosurg Psychiatry. 2004;75:626–630
  15. Tran M, Bhargava R, MacDonald IM. Leber hereditary optic neuropathy, progressive visual loss, and multiple-sclerosis-like symptoms. Am J Ophthalmol. 2001;132:591–593
  16. Kuker W, Weir A, Quaghebeur G, Palace J. White matter changes in Leber’s hereditary optic neuropathy: MRI findings. Eur J Neurol. 2007;14:591–593

PII: S0303-8467(08)00263-1

doi: 10.1016/j.clineuro.2008.06.021

Clinical Neurology and Neurosurgery
Volume 111, Issue 1 , Pages 83-86 , January 2009

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