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Motor neuron disease in a patient with a mitochondrial tRNAIle mutation

Authors

  • Gillian M. Borthwick PhD,

    1. Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, United Kingdom
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  • Robert W. Taylor PhD,

    1. Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, United Kingdom
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  • Timothy J. Walls FRCP,

    1. Department of Neurology, Regional Neurosciences Centre, Newcastle General Hospital, Newcastle upon Tyne, United Kingdom
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  • Kasia Tonska PhD,

    1. Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, United Kingdom
    2. Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Department of Genetics, University of Warsaw, Warsaw, Poland
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  • Geoffrey A. Taylor BSc,

    1. Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, United Kingdom
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  • Pamela J. Shaw FRCP,

    1. Motor Neurone Disorders Research Group, Academic Neurology Unit, United Kingdom
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  • Paul G. Ince FRCPath,

    1. Academic Unit of Pathology, The Medical School, University of Sheffield, Sheffield, United Kingdom
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  • Douglass M. Turnbull FRCP

    Corresponding author
    1. Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, United Kingdom
    • Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, NE2 4HH, United Kingdom
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Abstract

Objective

Motor neuron disease (MND) is a common neurodegenerative condition for which the underlying cause is uncertain in many patients. We identified a patient with clinical features suggestive of MND but additional cardiac and metabolic symptoms. We wished to determine if the clinical features were due to a mitochondrial DNA mutation.

Methods

The brain and spinal cord were studied using neuropathological techniques and agenetic defect investigated in individual neurons.

Results

There were atypical neuropathological features and genetic studies identified a pathogenic, heteroplasmic mitochondria tRNAIle (4274T>C) mutation.

Interpretation

This case adds to the phenotypic variation seen in mitochondrial DNA disease but also highlights the potential role of mitochondrial dysfunction in the cause of MND. Ann Neurol 2006

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