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J Clin Neurol. 2012 Sep;8(3):230-4. doi: 10.3988/jcn.2012.8.3.230. Epub 2012 Sep 27.

Leber's Hereditary Optic Neuropathy with Olivocerebellar Degeneration due to G11778A and T3394C Mutations in the Mitochondrial DNA.

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Division of Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan.



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.


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.


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


G11778A; Leber's hereditary optic neuropathy; Leber's hereditary optic neuropathy plus; T3394C; inferior olivary nucleus; mitochondria

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