Progressive Ataxia and Palatal Tremor: Think about POLG Mutations

BACKGROUND: Progressive ataxia and palatal tremor (PAPT) can be observed in both acquired brainstem or cerebellar lesions and genetic disorders. PHENOMENOLOGY SHOWN: PAPT due to mutation in POLG, the gene encoding the mitochondrial DNA polymerase. EDUCATIONAL VALUE: POLG mutation should be considere...

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Autores principales: Mongin, Marie, Delorme, Cécile, Lenglet, Timothée, Jardel, Claude, Vignal, Catherine, Roze, Emmanuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Columbia University Libraries/Information Services 2016
Materias:
Video Abstracts
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862008/
https://www.ncbi.nlm.nih.gov/pubmed/27351300
http://dx.doi.org/10.7916/D86M36RK
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author Mongin, Marie
Delorme, Cécile
Lenglet, Timothée
Jardel, Claude
Vignal, Catherine
Roze, Emmanuel
author_facet Mongin, Marie
Delorme, Cécile
Lenglet, Timothée
Jardel, Claude
Vignal, Catherine
Roze, Emmanuel
author_sort Mongin, Marie
collection PubMed
description BACKGROUND: Progressive ataxia and palatal tremor (PAPT) can be observed in both acquired brainstem or cerebellar lesions and genetic disorders. PHENOMENOLOGY SHOWN: PAPT due to mutation in POLG, the gene encoding the mitochondrial DNA polymerase. EDUCATIONAL VALUE: POLG mutation should be considered in patients with PAPT, particularly when additional clues such as a sensory neuronopathy or an ophthalmoplegia are present.
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spelling pubmed-48620082016-05-10 Progressive Ataxia and Palatal Tremor: Think about POLG Mutations Mongin, Marie Delorme, Cécile Lenglet, Timothée Jardel, Claude Vignal, Catherine Roze, Emmanuel Tremor Other Hyperkinet Mov (N Y) Video Abstracts BACKGROUND: Progressive ataxia and palatal tremor (PAPT) can be observed in both acquired brainstem or cerebellar lesions and genetic disorders. PHENOMENOLOGY SHOWN: PAPT due to mutation in POLG, the gene encoding the mitochondrial DNA polymerase. EDUCATIONAL VALUE: POLG mutation should be considered in patients with PAPT, particularly when additional clues such as a sensory neuronopathy or an ophthalmoplegia are present. Columbia University Libraries/Information Services 2016-05-02 /pmc/articles/PMC4862008/ /pubmed/27351300 http://dx.doi.org/10.7916/D86M36RK Text en http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution–Noncommerical–No Derivatives License, which permits the user to copy, distribute, and transmit the work provided that the original author and source are credited; that no commercial use is made of the work; and that the work is not altered or transformed.
spellingShingle Video Abstracts
Mongin, Marie
Delorme, Cécile
Lenglet, Timothée
Jardel, Claude
Vignal, Catherine
Roze, Emmanuel
Progressive Ataxia and Palatal Tremor: Think about POLG Mutations
title Progressive Ataxia and Palatal Tremor: Think about POLG Mutations
title_full Progressive Ataxia and Palatal Tremor: Think about POLG Mutations
title_fullStr Progressive Ataxia and Palatal Tremor: Think about POLG Mutations
title_full_unstemmed Progressive Ataxia and Palatal Tremor: Think about POLG Mutations
title_short Progressive Ataxia and Palatal Tremor: Think about POLG Mutations
title_sort progressive ataxia and palatal tremor: think about polg mutations
topic Video Abstracts
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862008/
https://www.ncbi.nlm.nih.gov/pubmed/27351300
http://dx.doi.org/10.7916/D86M36RK
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