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 |
| Published: |
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 |
| Summary: | <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> |
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| ISSN: | 2160-8288 |