Your browser doesn't support javascript.
loading
Leber's Hereditary Optic Neuropathy with Olivocerebellar Degeneration due to G11778A and T3394C Mutations in the Mitochondrial DNA
Journal of Clinical Neurology ; : 230-234, 2012.
Artículo en Inglés | WPRIM | ID: wpr-177469
ABSTRACT

BACKGROUND:

Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder with optic nerve atrophy. Although there are no other associated neurological abnormalities in most cases of LHON, cases of "LHON plus" have been reported. CASE REPORT The proband was a 37-year-old man who had visual and gait disturbances that had first appeared at 10 years of age. He showed horizontal gaze palsy, gaze-evoked nystagmus, dysarthria, and cerebellar ataxia. Brain and orbit MRI disclosed atrophy of the optic nerve and cerebellum, and degenerative changes in the bilateral inferior olivary nucleus. Mutational analyses of mitochondrial DNA identified the coexistence of heteroplasmic G11778A and homoplasmic T3394C mutations.

CONCLUSIONS:

These results suggest that the combination of G11778A and T3394C mutations leads to an atypical LHON phenotype.
Asunto(s)

Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Nervio Óptico / Órbita / Parálisis / Fenotipo / Atrofia / Encéfalo / ADN Mitocondrial / Núcleo Olivar / Ataxia Cerebelosa / Cerebelo Límite: Adulto / Humanos Idioma: Inglés Revista: Journal of Clinical Neurology Año: 2012 Tipo del documento: Artículo

Similares

MEDLINE

...
LILACS

LIS

Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Nervio Óptico / Órbita / Parálisis / Fenotipo / Atrofia / Encéfalo / ADN Mitocondrial / Núcleo Olivar / Ataxia Cerebelosa / Cerebelo Límite: Adulto / Humanos Idioma: Inglés Revista: Journal of Clinical Neurology Año: 2012 Tipo del documento: Artículo