Abstract
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.