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Leber's Hereditary Optic Neuropathy with Olivocerebellar Degeneration due to G11778A and T3394C Mutations in the Mitochondrial DNA
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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Korean Neurological Association
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3469805/ https://www.ncbi.nlm.nih.gov/pubmed/23091534 http://dx.doi.org/10.3988/jcn.2012.8.3.230 |
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author | Nakaso, Kazuhiro Adachi, Yoshiki Fusayasu, Emi Doi, Koji Imamura, Keiko Yasui, Kenichi Nakashima, Kenji |
author_facet | Nakaso, Kazuhiro Adachi, Yoshiki Fusayasu, Emi Doi, Koji Imamura, Keiko Yasui, Kenichi Nakashima, Kenji |
author_sort | Nakaso, Kazuhiro |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-3469805 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Korean Neurological Association |
record_format | MEDLINE/PubMed |
spelling | pubmed-34698052012-10-22 Leber's Hereditary Optic Neuropathy with Olivocerebellar Degeneration due to G11778A and T3394C Mutations in the Mitochondrial DNA Nakaso, Kazuhiro Adachi, Yoshiki Fusayasu, Emi Doi, Koji Imamura, Keiko Yasui, Kenichi Nakashima, Kenji J Clin Neurol Case Report 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. Korean Neurological Association 2012-09 2012-09-27 /pmc/articles/PMC3469805/ /pubmed/23091534 http://dx.doi.org/10.3988/jcn.2012.8.3.230 Text en Copyright © 2012 Korean Neurological Association http://creativecommons.org/licenses/by-nc/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Nakaso, Kazuhiro Adachi, Yoshiki Fusayasu, Emi Doi, Koji Imamura, Keiko Yasui, Kenichi Nakashima, Kenji Leber's Hereditary Optic Neuropathy with Olivocerebellar Degeneration due to G11778A and T3394C Mutations in the Mitochondrial DNA |
title | Leber's Hereditary Optic Neuropathy with Olivocerebellar Degeneration due to G11778A and T3394C Mutations in the Mitochondrial DNA |
title_full | Leber's Hereditary Optic Neuropathy with Olivocerebellar Degeneration due to G11778A and T3394C Mutations in the Mitochondrial DNA |
title_fullStr | Leber's Hereditary Optic Neuropathy with Olivocerebellar Degeneration due to G11778A and T3394C Mutations in the Mitochondrial DNA |
title_full_unstemmed | Leber's Hereditary Optic Neuropathy with Olivocerebellar Degeneration due to G11778A and T3394C Mutations in the Mitochondrial DNA |
title_short | Leber's Hereditary Optic Neuropathy with Olivocerebellar Degeneration due to G11778A and T3394C Mutations in the Mitochondrial DNA |
title_sort | leber's hereditary optic neuropathy with olivocerebellar degeneration due to g11778a and t3394c mutations in the mitochondrial dna |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3469805/ https://www.ncbi.nlm.nih.gov/pubmed/23091534 http://dx.doi.org/10.3988/jcn.2012.8.3.230 |
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