Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene

Sian D. Spacey, Enza Maria Valente, Gurusidheshwar M. Wali, Thomas T. Warner, Paul R. Jarman, Anthony H V Schapira, Peter H. Dixon, Mary B. Davis, Kailash P. Bhatia, Nicholas W. Wood

Research output: Contribution to journalArticlepeer-review

Abstract

Paroxysmal kinesigenic dyskinesia (PKD) is characterised by paroxysms of choreic, dystonic, ballistic, or athetoid movements. The attacks typically last seconds to minutes in duration and are induced by sudden voluntary movement. PKD loci have been identified on chromosome 16. We present the clinical and genetic details of two British and an Indian family with PKD. Linkage to the PKD loci on chromosome 16 has been excluded in one of these families, providing evidence for a third loci for PKD. Detailed clinical descriptions highlight the presence of both adolescent and infantile seizures in some of the PKD families. This study attempts to clarify the relationship of adolescent and infantile seizures to PKD and provides evidence that PKD is both genetically and clinically heterogeneous.

Original languageEnglish
Pages (from-to)717-725
Number of pages9
JournalMovement Disorders
Volume17
Issue number4
DOIs
Publication statusPublished - Jul 2002

Keywords

  • Neurogenetics
  • Paroxysmal kinesigenic dyskinesia
  • Seizures

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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