Journal of Neurology

, Volume 254, Issue 4, pp 482–487

Investigation of the mitochondrial genome in patients with atypical motor neuron disease

Authors

  • Catherine Phoenix
    • Mitochondrial Research Group, School of Neurology, Neurobiology and PsychiatryThe Medical School, University of Newcastle
  • Geoffrey A. Taylor
    • Mitochondrial Research Group, School of Neurology, Neurobiology and PsychiatryThe Medical School, University of Newcastle
  • Judith Hartley
    • Motor Neurone Disorders Research Group, Academic Neurology UnitThe Medical School, University of Sheffield
  • Hannah Nixon
    • Motor Neurone Disorders Research Group, Academic Neurology UnitThe Medical School, University of Sheffield
  • Paul G. Ince
    • Academic Unit of PathologyThe Medical School, University of Sheffield
  • Pamela J. Shaw
    • Motor Neurone Disorders Research Group, Academic Neurology UnitThe Medical School, University of Sheffield
  • Douglass M. Turnbull
    • Mitochondrial Research Group, School of Neurology, Neurobiology and PsychiatryThe Medical School, University of Newcastle
    • Mitochondrial Research Group, School of Neurology, Neurobiology and PsychiatryThe Medical School, University of Newcastle
ORIGINAL COMMUNICATION

DOI: 10.1007/s00415-006-0399-1

Cite this article as:
Phoenix, C., Taylor, G.A., Hartley, J. et al. J Neurol (2007) 254: 482. doi:10.1007/s00415-006-0399-1
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Abstract

The molecular aetiology of many patients with motor neuron disease (MND) remains unknown. Recent evidence of mitochondrial dysfunction, in particular the finding of histochemical abnormalities and pathogenic mitochondrial DNA (mtDNA) mutations, has prompted us to investigate further the role of mtDNA abnormalities in a cohort of thirteen patients with atypical MND presentations by whole mitochondrial genome sequencing. No pathogenic mutations were detected suggesting that inherited mtDNA mutations are not a common cause of atypical MND presentations.

Key words

motor neuron diseasemitochondrial DNAmutationpathogenicitygenome sequencing

Copyright information

© Steinkopff-Verlag 2007