Paroxysmal Kinesigenic Dyskinesia

Tremor and Other Hyperkinetic Movements

article

Martin Paucar¹  Helena Malmgren³  Per Svenningsson¹ 

[1] Department of Neurology, Karolinska University Hospital Huddinge;Department of Clinical Neuroscience, Karolinska Institutet;Department of Clinical Genetics, Karolinska University Hospital Solna;Department of Molecular Medicine and Surgery, Karolinska Institutet

关键词: Paroxysmal kinesigenic dyskinesia;    PRRT2;    carbamazepine;   

DOI  :  10.5334/tohm.393

学科分类：社会科学、人文和艺术（综合）

来源: Ubiquity Press

【 摘 要 】

Background: Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition associated with heterozygous mutations in the proline-rich transmembrane protein 2 ( PRRT2 ) gene. Phenomenology Shown: In this article we illustrate the phenomenology of PKD in a male previously misdiagnosed with Tourette’s syndrome. Educational Value: Regardless of the underlying phenotype, PKD is highly responsive to some antiepileptic drugs.

【 授权许可】

CC BY