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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.

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Title
Tremor and Other Hyperkinetic Movements
DOI
https://doi.org/10.7916/D86M36RK

More About This Work

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