Lookup NU author(s): Dr Gillian Borthwick,
Professor Robert Taylor,
Dr Timothy Walls,
Dr Kasia Tonska,
Professor Pamela Shaw,
Professor Doug Turnbull
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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. © 2005 American Neurological Association.
Author(s): Borthwick GM, Taylor RW, Walls TJ, Tonska K, Taylor GA, Shaw PJ, Ince PG, Turnbull DM
Publication type: Article
Publication status: Published
Journal: Annals of Neurology
ISSN (print): 0364-5134
ISSN (electronic): 1531-8249
Publisher: John Wiley & Sons, Inc.
PubMed id: 16358336
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