Generalized Dystonia and Paroxysmal Dystonic Attacks due to a Novel ATP1A3 Variant

Zúñiga-Ramírez, Carlos; Kramis-Hollands, Mirelle; Mercado-Pimente, Rodrigo; González-Usigli, Héctor Alberto; Sáenz-Farret, Michel; Soto-Escageda, Alberto; Fasano, Alfonso

Background: Paroxysmal movement disorders are a heterogeneous group of neurological diseases, better understood in recent years thanks to widely available genetic testing.

Case report: A pair of monozygotic twins with dystonia and paroxysmal attacks, resembling paroxysmal non-kinesigenic dyskinesias, due to a novel ATP1A3 variant are reported. The complete resolution of their paroxysms was achieved using levodopa and deep brain stimulation of the internal globus pallidus. Improvement of interictal dystonia was also achieved with this therapy.

Discussion: Paroxysmal worsening of movement disorders should be suspected as part of the ATP1A3 spectrum. Treatment outcome might be predicted based on the phenotype.


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Also Published In

Tremor and Other Hyperkinetic Movements

More About This Work

Academic Units
Center for Parkinson's Disease and Other Movement Disorders
Published Here
January 15, 2020