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 tRNA(Ile) (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.
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 tRNA(Ile) (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.
Authors: Catherine Phoenix; Geoffrey A Taylor; Judith Hartley; Hannah Nixon; Paul G Ince; Pamela J Shaw; Douglass M Turnbull; Robert W Taylor Journal: J Neurol Date: 2007-03-31 Impact factor: 4.849
Authors: Laura E Cox; Laura Ferraiuolo; Emily F Goodall; Paul R Heath; Adrian Higginbottom; Heather Mortiboys; Hannah C Hollinger; Judith A Hartley; Alice Brockington; Christine E Burness; Karen E Morrison; Stephen B Wharton; Andrew J Grierson; Paul G Ince; Janine Kirby; Pamela J Shaw Journal: PLoS One Date: 2010-03-24 Impact factor: 3.240