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Progressive Ataxia and Palatal Tremor: Think about <i>POLG</i> Mutations
oleh: Marie Mongin, Cécile Delorme, Timothée Lenglet, Claude Jardel, Catherine Vignal, Emmanuel Roze
Format: | Article |
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Diterbitkan: | Ubiquity Press 2016-05-01 |
Deskripsi
<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>