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

  • Marie Mongin
  • Cécile Delorme
  • Timothée Lenglet
  • Claude Jardel
  • Catherine Vignal
  • Emmanuel Roze


Background: Progressive ataxia and palatal tremor (PAPT) can be observed in both acquired brainstem or cerebellar lesions and genetic disorders.

Phenomenology shown: PAPT due to mutation in POLG, the gene encoding the mitochondrial DNA polymerase.

Educational value: POLG mutation should be considered in patients with PAPT, particularly when additional clues such as a sensory neuronopathy or an ophthalmoplegia are present.