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>...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Ubiquity Press
2016-05-01
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| Series: | Tremor and Other Hyperkinetic Movements |
| Online Access: | https://tremorjournal.org/index.php/tremor/article/view/382 |
| _version_ | 1818657240526094336 |
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| author | Marie Mongin Cécile Delorme Timothée Lenglet Claude Jardel Catherine Vignal Emmanuel Roze |
| author_facet | Marie Mongin Cécile Delorme Timothée Lenglet Claude Jardel Catherine Vignal Emmanuel Roze |
| author_sort | Marie Mongin |
| collection | DOAJ |
| 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> |
| first_indexed | 2024-12-17T03:38:20Z |
| format | Article |
| id | doaj.art-d22e43eb0db9444499e3791dbaaeab42 |
| institution | Directory Open Access Journal |
| issn | 2160-8288 |
| language | English |
| last_indexed | 2024-12-17T03:38:20Z |
| publishDate | 2016-05-01 |
| publisher | Ubiquity Press |
| record_format | Article |
| series | Tremor and Other Hyperkinetic Movements |
| spelling | doaj.art-d22e43eb0db9444499e3791dbaaeab422022-12-21T22:05:05ZengUbiquity 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 |
| 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 |
| title | 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_short | Progressive Ataxia and Palatal Tremor: Think about <i>POLG</i> Mutations |
| title_sort | progressive ataxia and palatal tremor think about i polg i mutations |
| url | https://tremorjournal.org/index.php/tremor/article/view/382 |
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