Annals of neurology · 2006
Motor neuron disease in a patient with a mitochondrial tRNAIle mutation.
Клинический случайСравнительное исследованиеСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Borthwick Gillian M, Taylor Robert W, Walls Timothy J, Tonska Kasia, Taylor Geoffrey A, Shaw Pamela J, Ince Paul G, Turnbull Douglass M
Аннотация
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.
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.