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Related Experiment Videos

Paroxysmal kinesigenic dyskinesias.

T Lotze1, J Jankovic

  • 1Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.

Seminars in Pediatric Neurology
|June 6, 2003
PubMed
Summary

Paroxysmal dyskinesias (PxDs) are intermittent movement disorders. Paroxysmal kinesigenic dyskinesia (PKD) attacks are triggered by movement and may be linked to genetic factors and channelopathies.

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Area of Science:

  • Neurology
  • Movement Disorders

Background:

  • Paroxysmal dyskinesias (PxDs) encompass a group of hyperkinetic movement disorders characterized by intermittent attacks.
  • Paroxysmal kinesigenic dyskinesia (PKD) is a subtype triggered by voluntary movements, often occurring sporadically or with autosomal-dominant inheritance.

Purpose of the Study:

  • To review the current understanding of paroxysmal kinesigenic dyskinesia (PKD).
  • To explore the pathophysiology, genetic links, and potential etiologies of PKD.

Main Methods:

  • Review of existing literature on paroxysmal dyskinesias and PKD.
  • Analysis of genetic linkage studies and proposed pathophysiological mechanisms.

Main Results:

  • PKD involves involuntary movements like dystonia and chorea, triggered by sudden actions.
  • Genetic linkage studies suggest a locus on chromosome 16, potentially implicating channelopathies.
  • Basal ganglia dysfunction is considered a significant factor in PxD pathophysiology.

Conclusions:

  • While the precise gene for PKD remains elusive, channelopathy is a leading hypothesis for its etiology.
  • PKD can remit spontaneously and shows positive response to anticonvulsant treatments.

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