Progressive Ataxia and Palatal Tremor: Think about <i>POLG</i> Mutations

Progressive Ataxia and Palatal Tremor: Think about <i>POLG</i> Mutations

<p><strong>Background:</strong> Progressive ataxia and palatal tremor (PAPT) can be observed in both acquired brainstem or cerebellar lesions and genetic disorders.</p> <p><strong>Phenomenology shown:</strong> PAPT due to mutation in <em>POLG</em>...

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Main Authors: Marie Mongin, Cécile Delorme, Timothée Lenglet, Claude Jardel, Catherine Vignal, Emmanuel Roze
Format: Article
Language:English
Published: Ubiquity Press 2016-05-01
Series:Tremor and Other Hyperkinetic Movements
Online Access:https://tremorjournal.org/index.php/tremor/article/view/382
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spelling doaj-d22e43eb0db9444499e3791dbaaeab422021-04-02T11:42:06ZengUbiquity PressTremor and Other Hyperkinetic Movements2160-82882016-05-01610.7916/D86M36RK265Progressive Ataxia and Palatal Tremor: Think about <i>POLG</i> MutationsMarie Mongin0Cécile Delorme1Timothée Lenglet2Claude Jardel3Catherine Vignal4Emmanuel Roze5- CHRU de Tours, Hôpital Bretonneau, Service de Neurologie, 37000, Tours, France. - Université François Rabelais de Tours, 37032 Tours, France.- Assistance Publique – Hôpitaux de Paris, Hôpital de la Pitié Salpêtrière, Département de Neurologie, 75013, Paris, France. - Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, 75013, Paris, France.Assistance Publique – Hôpitaux de Paris, Hôpital de la Pitié Salpêtrière, Département de Neurophysiologie, 75013, Paris, France.- AP-HP, Hôpital de la Pitié Salpêtrière, Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, 75013, Paris, France. - Inserm U 1016, CNRS UMR 8104, Institut Cochin, 75013, Paris, France.Rothschild Ophthalmologic Foundation, Neuroophthalmology Department, 25 rue Manin, 75019, Paris, France.- Assistance Publique – Hôpitaux de Paris, Hôpital de la Pitié Salpêtrière, Département de Neurologie, 75013, Paris, France. - Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, 75013, Paris, France.<p><strong>Background:</strong> Progressive ataxia and palatal tremor (PAPT) can be observed in both acquired brainstem or cerebellar lesions and genetic disorders.</p> <p><strong>Phenomenology shown:</strong> PAPT due to mutation in <em>POLG</em>, the gene encoding the mitochondrial DNA polymerase.</p> <p><strong>Educational value:</strong> <em>POLG</em> mutation should be considered in patients with PAPT, particularly when additional clues such as a sensory neuronopathy or an ophthalmoplegia are present.</p>https://tremorjournal.org/index.php/tremor/article/view/382
collection DOAJ
language English
format Article
sources DOAJ
author Marie Mongin
Cécile Delorme
Timothée Lenglet
Claude Jardel
Catherine Vignal
Emmanuel Roze
spellingShingle Marie Mongin
Cécile Delorme
Timothée Lenglet
Claude Jardel
Catherine Vignal
Emmanuel Roze
Progressive Ataxia and Palatal Tremor: Think about <i>POLG</i> Mutations
Tremor and Other Hyperkinetic Movements
author_facet Marie Mongin
Cécile Delorme
Timothée Lenglet
Claude Jardel
Catherine Vignal
Emmanuel Roze
author_sort Marie Mongin
title Progressive Ataxia and Palatal Tremor: Think about <i>POLG</i> Mutations
title_short Progressive Ataxia and Palatal Tremor: Think about <i>POLG</i> Mutations
title_full Progressive Ataxia and Palatal Tremor: Think about <i>POLG</i> Mutations
title_fullStr Progressive Ataxia and Palatal Tremor: Think about <i>POLG</i> Mutations
title_full_unstemmed Progressive Ataxia and Palatal Tremor: Think about <i>POLG</i> Mutations
title_sort progressive ataxia and palatal tremor: think about <i>polg</i> mutations
publisher Ubiquity Press
series Tremor and Other Hyperkinetic Movements
issn 2160-8288
publishDate 2016-05-01
description <p><strong>Background:</strong> Progressive ataxia and palatal tremor (PAPT) can be observed in both acquired brainstem or cerebellar lesions and genetic disorders.</p> <p><strong>Phenomenology shown:</strong> PAPT due to mutation in <em>POLG</em>, the gene encoding the mitochondrial DNA polymerase.</p> <p><strong>Educational value:</strong> <em>POLG</em> mutation should be considered in patients with PAPT, particularly when additional clues such as a sensory neuronopathy or an ophthalmoplegia are present.</p>
url https://tremorjournal.org/index.php/tremor/article/view/382
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