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
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>