Motor neuron disease in a patient with a mitochondrial tRNAIle mutation
Article first published online: 15 DEC 2005
Copyright © 2005 American Neurological Association
Annals of Neurology
Volume 59, Issue 3, pages 570–574, March 2006
How to Cite
Borthwick, G. M., Taylor, R. W., Walls, T. J., Tonska, K., Taylor, G. A., Shaw, P. J., Ince, P. G. and Turnbull, D. M. (2006), Motor neuron disease in a patient with a mitochondrial tRNAIle mutation. Ann Neurol., 59: 570–574. doi: 10.1002/ana.20758
- Issue published online: 17 FEB 2006
- Article first published online: 15 DEC 2005
- Manuscript Revised: 24 OCT 2005
- Manuscript Accepted: 24 OCT 2005
- Manuscript Received: 22 JUN 2005
- Wellcome Trust. Grant Numbers: 074454, 063431
- Motor Neurone Disease Association
- Medical Research Council. Grant Number: 0300984
- Newcastle upon Tyne Hospitals NHS Trust
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.
The brain and spinal cord were studied using neuropathological techniques and agenetic defect investigated in individual neurons.
There were atypical neuropathological features and genetic studies identified a pathogenic, heteroplasmic mitochondria tRNAIle (4274T>C) mutation.
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