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Progresses of studies on genetics and clinical characteristics of paroxysmal nonkinesigenic dyskinesia

TIAN Wo-tu, LIU Xiao-li, CAO Li   

  1. Department of Neurology, Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
  • Online:2016-07-28 Published:2016-08-31
  • Supported by:

    National Natural Science Foundation of China,81571086,81271262


Paroxysmal nonkinesigenic dyskinesia (PNKD) is a disorder characterized by intermittent attacks of involuntary movements that are induced by intake of tea, coffee, or alcohol and fatigue with clinical and genetic heterogeneity.Familial PNKD is mostly presented with autosomal dominant inheritance. PNKD1 (MR-1), PRRT2, PNKD2, KCNMA1, and SLC2A1 have been identified as the pathogenic genes for PNKD. This paper reviews advances in clinical and genetic studies on PNKD in order to contribute to the research on the pathogenesis of PNKD.

Key words: paroxysmal nonkinesigenic dyskinesia, clinical features, genetics