Progressive Ataxia and Palatal Tremor: Think about POLG Mutations

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

doi:10.7916/D86M36RK

Progressive Ataxia and Palatal Tremor: Think about POLG Mutations

Tremor Other Hyperkinet Mov (N Y). 2016 May 2:6:382. doi: 10.7916/D86M36RK. eCollection 2016.

Authors

Marie Mongin¹, Cécile Delorme², Timothée Lenglet³, Claude Jardel⁴, Catherine Vignal⁵, Emmanuel Roze²

Affiliations

¹ CHRU de Tours, Hôpital Bretonneau, Service de Neurologie, Tours, France; Université François Rabelais de Tours, Tours, France.
² Département de Neurologie, Assistance Publique - Hôpitaux de Paris, Hôpital de la Pitié Salpêtrière, Paris, France; Inserm U 1127, Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.
³ Département de Neurophysiologie, Assistance Publique - Hôpitaux de Paris, Hôpital de la Pitié Salpêtrière, Paris, France.
⁴ AP-HP, Hôpital de la Pitié Salpêtrière, Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, Paris, France; Inserm U 1016, Institut Cochin, Paris, France.
⁵ Neuroophthalmology Department, Rothschild Ophthalmologic Foundation, Paris, France.

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.

Keywords: Polymerase gamma mutation; ganglionopathy; ophthalmoplegia; progressive ataxia and palatal tremor.