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

Tremor and Other Hyperkinetic Movements

article

Carlos Zúñiga-Ramírez¹  Mirelle Kramis-Hollands³  Rodrigo Mercado-Pimentel¹  Héctor Alberto González-Usigli¹  Michel Sáenz-Farret¹  Alberto Soto-Escageda¹  Alfonso Fasano⁵ 

[1] Movement Disorders and Neurodegenerative Diseases Unit (UMANO);Hospital Civil de Guadalajara “Fray Antonio Alcalde;Department of Genetics, Hospital Español;Instituto Mexicano del Seguro Social;Edmond J. Safra Program in Parkinson’s Disease and Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital and Division of Neurology, Division of Neurology, University of Toronto;Krembil Brain Institute

关键词: ATP1A3;    paroxysmal dyskinesia;    dystonia;    status dystonicus;    AHC-2;    rapid-onset parkinsonism-dystonia;   

DOI  :  10.5334/tohm.490

学科分类：社会科学、人文和艺术（综合）

来源: Ubiquity Press

【 摘 要 】

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.

【 授权许可】

CC BY