Late-Onset Leigh Syndrome due to NDUFV1 Mutation in a 10-Year-Old Boy Initially Presenting with Ataxia

Leigh syndrome (LS) is a progressive neurodegenerative disease caused by either mitochondrial or nuclear DNA mutations resulting in dysfunctional mitochondrial energy metabolism. The onset of clinical features is typically between 3 and 12 months of age; however, a later onset has been described in...

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Detalles Bibliográficos
Autores principales: Incecik, Faruk, Herguner, Ozlem M., Besen, Seyda, Bozdoğan, Sevcan T., Mungan, Neslihan O.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057190/
https://www.ncbi.nlm.nih.gov/pubmed/30090137
http://dx.doi.org/10.4103/jpn.JPN_138_17
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author Incecik, Faruk
Herguner, Ozlem M.
Besen, Seyda
Bozdoğan, Sevcan T.
Mungan, Neslihan O.
author_facet Incecik, Faruk
Herguner, Ozlem M.
Besen, Seyda
Bozdoğan, Sevcan T.
Mungan, Neslihan O.
author_sort Incecik, Faruk
collection PubMed
description Leigh syndrome (LS) is a progressive neurodegenerative disease caused by either mitochondrial or nuclear DNA mutations resulting in dysfunctional mitochondrial energy metabolism. The onset of clinical features is typically between 3 and 12 months of age; however, a later onset has been described in a few patients. Complex I deficiency is reported to be the most common cause of mitochondrial disorders. We described a patient with a late-onset LS, who presented with gait ataxia, caused by complex I deficiency (NDUFV1 gene).
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spelling pubmed-60571902018-08-08 Late-Onset Leigh Syndrome due to NDUFV1 Mutation in a 10-Year-Old Boy Initially Presenting with Ataxia Incecik, Faruk Herguner, Ozlem M. Besen, Seyda Bozdoğan, Sevcan T. Mungan, Neslihan O. J Pediatr Neurosci Case Report Leigh syndrome (LS) is a progressive neurodegenerative disease caused by either mitochondrial or nuclear DNA mutations resulting in dysfunctional mitochondrial energy metabolism. The onset of clinical features is typically between 3 and 12 months of age; however, a later onset has been described in a few patients. Complex I deficiency is reported to be the most common cause of mitochondrial disorders. We described a patient with a late-onset LS, who presented with gait ataxia, caused by complex I deficiency (NDUFV1 gene). Medknow Publications & Media Pvt Ltd 2018 /pmc/articles/PMC6057190/ /pubmed/30090137 http://dx.doi.org/10.4103/jpn.JPN_138_17 Text en Copyright: © 2018 Journal of Pediatric Neurosciences http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Incecik, Faruk
Herguner, Ozlem M.
Besen, Seyda
Bozdoğan, Sevcan T.
Mungan, Neslihan O.
Late-Onset Leigh Syndrome due to NDUFV1 Mutation in a 10-Year-Old Boy Initially Presenting with Ataxia
title Late-Onset Leigh Syndrome due to NDUFV1 Mutation in a 10-Year-Old Boy Initially Presenting with Ataxia
title_full Late-Onset Leigh Syndrome due to NDUFV1 Mutation in a 10-Year-Old Boy Initially Presenting with Ataxia
title_fullStr Late-Onset Leigh Syndrome due to NDUFV1 Mutation in a 10-Year-Old Boy Initially Presenting with Ataxia
title_full_unstemmed Late-Onset Leigh Syndrome due to NDUFV1 Mutation in a 10-Year-Old Boy Initially Presenting with Ataxia
title_short Late-Onset Leigh Syndrome due to NDUFV1 Mutation in a 10-Year-Old Boy Initially Presenting with Ataxia
title_sort late-onset leigh syndrome due to ndufv1 mutation in a 10-year-old boy initially presenting with ataxia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057190/
https://www.ncbi.nlm.nih.gov/pubmed/30090137
http://dx.doi.org/10.4103/jpn.JPN_138_17
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