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Multiple sclerosis and chronic progressive external ophthalmoplegia associated with a large scale mitochondrial DNA single deletion

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References

  1. Ng YS, Turnbull DM (2016) Mitochondrial disease: genetics and management. J Neurol 263(1):179–191

    Article  CAS  PubMed  Google Scholar 

  2. Weisfeld-Adams JD, Katz Sand IB, Honce JM et al (2015) Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis. Brain 138:517–539

    Article  PubMed  PubMed Central  Google Scholar 

  3. Kovács GG, Höftberger R, Majtényi K et al (2005) Neuropathology of white matter disease in Leber’s hereditary optic neuropathy. Brain 128:35–41

    Article  PubMed  Google Scholar 

  4. Campbell GR, Ziabreva I, Reeve AK et al (2011) Mitochondrial DNA deletions and neurodegeneration in multiple sclerosis. Ann Neurol 69(3):481–492

    Article  CAS  PubMed  Google Scholar 

  5. Dutta R, McDonough J, Yin X et al (2006) Mitochondrial dysfunction as a cause of axonal degeneration in multiple sclerosis patients. Ann Neurol 59(3):478–489

    Article  CAS  PubMed  Google Scholar 

  6. Slee M, Finkemeyer J, Krupa M et al (2011) A novel mitochondrial DNA deletion producing progressive external ophthalmoplegia associated with multiple sclerosis. J Clin Neurosci 18:1318–1324

    Article  CAS  PubMed  Google Scholar 

  7. Krishnan KJ, Reeve AK, Samuels DC et al (2008) What causes mitochondrial DNA deletions in human cells? Nat Genet 40(3):275–279

    Article  CAS  PubMed  Google Scholar 

  8. MITOMAP: a human mitochondrial genome database (2015). http://www.mitomap.org. Accessed 24 Nov 2015

  9. Stys PK, Zamponi GW, Van Minnen J et al (2012) Will the real multiple sclerosis please stand up? Nat Rev Neurosci 13:507–514

    Article  CAS  PubMed  Google Scholar 

  10. Lassmann H, Van Horssen J, Mahad D (2012) Progressive multiple sclerosis: pathology and pathogenesis. Nat Rev Neurol 8:647–656

    Article  CAS  PubMed  Google Scholar 

  11. Campbell GR, Reeve AK, Ziabreva I et al (2013) No excess of mitochondrial DNA deletions within muscle in progressive multiple sclerosis. Mult Scler 19(14):1858–1866

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Acknowledgments

We thank Dr. Paolo Prontera for critically reading the manuscript and for the useful suggestions.

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Correspondence to Massimiliano Di Filippo.

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Conflicts of interest

LG received travel grants from Biogen-Idec, Biogen, Novartis, Teva, Genzyme and Almirall to attend national and international conferences. MDF participated to advisory boards of Biogen Idec, Teva and Bayer, received travel grants from Bayer Schering, Biogen-Dompé, Biogen-Idec, Merck-Serono, Novartis and Sanofi-Aventis to attend national and international conferences and speaker and writing honoraria from Biogen Idec, Novartis and Sanofi-Genzyme. PC received/receive research support from Bayer Schering, Biogen-Dompé, Boehringer Ingelheim, Eisai, Lundbeck, Merck-Serono, Novartis, Sanofi-Aventis, Sigma-Tau and UCB Pharma. He also receives/received support from Ricerca Corrente IRCCS, Ricerca Finalizzata IRCCS, European Community Grant REPLACES (restorative plasticity at corticostriatal excitatory synapses), the Italian Minister of Health, and AIFA (Agenzia Italiana del Farmaco). AMi, MDG, PS, AMa, EC and MTD report no conflicts of interests.

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The authors declare that they have complied with ethical standards.

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Patient consent for publication was obtained.

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L. Gaetani and A. Mignarri equally contributed to the work.

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Gaetani, L., Mignarri, A., Di Gregorio, M. et al. Multiple sclerosis and chronic progressive external ophthalmoplegia associated with a large scale mitochondrial DNA single deletion. J Neurol 263, 1449–1451 (2016). https://doi.org/10.1007/s00415-016-8120-5

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  • DOI: https://doi.org/10.1007/s00415-016-8120-5

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