Borthwick Gillian M, Taylor Robert W, Walls Timothy J, Tonska Kasia, Taylor Geoffrey A, Shaw Pamela J, Ince Paul G, Turnbull Douglass M
Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK.
Ann Neurol. 2006 Mar;59(3):570-4. doi: 10.1002/ana.20758.
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 tRNA(Ile) (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.
