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Leigh Syndrome: Subgroup Aanalysis according to Mitochondrial DNA Mutation / 대한소아신경학회지
Journal of the Korean Child Neurology Society ; (4): 7-12, 2018.
Artículo en Inglés | WPRIM | ID: wpr-728835
ABSTRACT

PURPOSE:

Leigh syndrome (LS) is a rare, progressive neurodegenerative disorder with characteristic abnormalities in the central nervous system. Such patients present with heterogeneous clinical symptoms and genetic abnormalities; thus, prognosis is difficult to anticipate. The present study investigates whether distinct patient characteristics are associated with mitochondrial DNA (mtDNA) mutation in LS patients.

METHODS:

We retrospectively analyzed data from patients diagnosed with LS at our hospital who were assessed using genomic sequencing of mtDNA. A subgroup analysis was performed to divide patients according to the mtDNA sequencing results.

RESULTS:

Among the 85 patients enrolled, 18 had mtDNA mutations. Most patients had lactic acidosis and a lactate/pyruvate ratio above 20, indicating respiratory chain abnormalities. In the subgroup analysis, the mutation group had a significantly higher female-to-male ratio, alanine level, ocular involvement, and midbrain and medulla abnormalities on magnetic resonance imaging (MRI).

CONCLUSION:

The subgroup analysis indicates that mtDNA sequencing is recommended for female patients, or those who exhibit ocular involvement, high alanine levels, or MRI findings with lesions in the midbrain and medulla.
Asunto(s)

Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Pronóstico / Acidosis Láctica / Tronco Encefálico / ADN Mitocondrial / Mesencéfalo / Imagen por Resonancia Magnética / Enfermedad de Leigh / Sistema Nervioso Central / Estudios Retrospectivos / Enfermedades Neurodegenerativas Tipo de estudio: Estudio observacional / Estudio pronóstico Límite: Femenino / Humanos Idioma: Inglés Revista: Journal of the Korean Child Neurology Society Año: 2018 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Pronóstico / Acidosis Láctica / Tronco Encefálico / ADN Mitocondrial / Mesencéfalo / Imagen por Resonancia Magnética / Enfermedad de Leigh / Sistema Nervioso Central / Estudios Retrospectivos / Enfermedades Neurodegenerativas Tipo de estudio: Estudio observacional / Estudio pronóstico Límite: Femenino / Humanos Idioma: Inglés Revista: Journal of the Korean Child Neurology Society Año: 2018 Tipo del documento: Artículo