Leber's Hereditary Optic Neuropathy with Dystonia Caused by mtDNA 11778 Mutation
Journal of the Korean Neurological Association
;
: 244-248, 2000.
Artículo
en Coreano
| WPRIM
| ID: wpr-12683
ABSTRACT
Several mtDNA mutations have been reported in Leber's hereditary optic neuropathy (LHON) associated with dystonia since it was identified as having the 14459 mutation. We report a patient with LHON and dystonia and his family. The patient presented with a slowly progressive bilateral visual loss and generalized dystonia. Brain MRI showed abnormal signal changes in both putamina. The 11778 mutation was confirmed by a Sfa I restriction digestion test. We found, in the literature, only one case of the 11778 mutation associated with dystonia, although it is one of the most common mutations in LHON. Our case suggests that the 11778 mutation should be taken into consideration in the pathogenesis of LHON associated with dystonia.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Encéfalo
/
ADN Mitocondrial
/
Imagen por Resonancia Magnética
/
Atrofia Óptica Hereditaria de Leber
/
Digestión
/
Distonía
Límite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Año:
2000
Tipo del documento:
Artículo
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