Journal of Shanghai Jiao Tong University (Medical Science) >

2016 , Vol. 36 >Issue 7: 1075

DOI: https://doi.org/10.3969/j.issn.1674-8115.2016.07.023

Review

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

  • TIAN Wo-tu ,
  • LIU Xiao-li ,
  • CAO Li
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  • Department of Neurology, Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China

Online published: 2016-08-31

Supported by

National Natural Science Foundation of China，81571086，81271262

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Abstract

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

Cite this article

TIAN Wo-tu , LIU Xiao-li , CAO Li . Progresses of studies on genetics and clinical characteristics of paroxysmal nonkinesigenic dyskinesia[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2016 , 36(7) : 1075 . DOI: 10.3969/j.issn.1674-8115.2016.07.023

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