Progressive Ataxia and Palatal Tremor: Think about POLG Mutations

Mongin, Marie; Delorme, Cecile; Lenglet, Timothee; Jardel, Claude; Vignal, Catherine; Roze, Emmanuel

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.


Also Published In

Tremor and Other Hyperkinetic Movements

More About This Work

Academic Units
Center for Parkinson's Disease and Other Movement Disorders
The Center for Digital Research and Scholarship
Published Here
November 2, 2016