Motor neuron disease in a patient with a mitochondrial tRNAIle mutation.
Ann Neurol
; 59(3): 570-4, 2006 Mar.
Article
em En
| MEDLINE
| ID: mdl-16358336
ABSTRACT
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
DNA Mitocondrial
/
RNA de Transferência de Isoleucina
/
Doença dos Neurônios Motores
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Aged
/
Humans
/
Male
Idioma:
En
Revista:
Ann Neurol
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Reino Unido