Successful treatment of choreo-athetotic movements in a patient with an EEF1A2 gene variant

Eboni I Lance; Martin Kronenbuerger; Julie S Cohen; Orion Furmanski; Harvey S Singer; Ali Fatemi

doi:10.1177/2050313X18807622

Successful treatment of choreo-athetotic movements in a patient with an EEF1A2 gene variant

SAGE Open Med Case Rep. 2018 Oct 24:6:2050313X18807622. doi: 10.1177/2050313X18807622. eCollection 2018.

Authors

Eboni I Lance^{1

2}, Martin Kronenbuerger^{2

3}, Julie S Cohen⁴, Orion Furmanski^{5

6}, Harvey S Singer², Ali Fatemi^{2

4}

Affiliations

¹ Department of Neurology, Kennedy Krieger Institute, Baltimore, MD, USA.
² Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore, MD, USA.
³ Department of Neurology, University Medicine Greifswald, Greifswald, Germany.
⁴ Hugo W. Moser Research Institute at Kennedy Krieger, Kennedy Krieger Institute, Baltimore, MD, USA.
⁵ Center for Neuroscience and Regenerative Medicine, Uniformed Services University, Bethesda, MD, USA.
⁶ Department of Anatomy, Physiology and Genetics, School of Medicine, Uniformed Services University, Bethesda, MD, USA.

Abstract

Pathogenic variants in EEF1A2, a gene encoding a eukaryotic translation elongation factor, have been previously reported in pediatric cases of epileptic encephalopathy and intellectual disability. We report a case of a 17-year-old male with a prior history of epilepsy, autism, intellectual disability, and the abrupt onset of choreo-athetotic movements. The patient was diagnosed with an EEF1A2 variant by whole exome sequencing. His movement disorder responded dramatically to treatment with tetrabenazine. To the best of our knowledge, this is the first report of successful treatment of a hyperkinetic movement disorder in the setting of EEF1A2 mutation. A trial with tetrabenazine should be considered in cases with significant choreoathetosis.

Keywords: Epilepsy; autism; chorea; genetics; treatment.

Publication types

Case Reports