Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings.
AJNR Am J Neuroradiol
; 24(6): 1188-91, 2003.
Article
em En
| MEDLINE
| ID: mdl-12812953
ABSTRACT
Mutations in the nuclear SURF1 gene are specifically associated with cytochrome c oxidase (COX)-deficient Leigh syndrome. MR imaging abnormalities in three children with this condition involved the subthalamic nuclei, medulla, inferior cerebellar peduncles, and substantia nigra in all cases. The dentate nuclei and central tegmental tracts were involved in two cases each (all instances), and the putamina, interpeduncular nucleus, and pallido-cortical-nigro-cortical tracts in one. MR imaging pattern recognition can suggest an underlying COX deficiency and should prompt investigators to search for SURF1 gene mutations.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Encefalopatias Metabólicas
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Imageamento por Ressonância Magnética
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Proteínas
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Doença de Leigh
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Deficiência de Citocromo-c Oxidase
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Mutação
Tipo de estudo:
Diagnostic_studies
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Observational_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Child, preschool
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Female
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Humans
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Infant
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Male
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Newborn
Idioma:
En
Ano de publicação:
2003
Tipo de documento:
Article