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Publication Detail
Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Article
  • Authors:
    Spacey SD, Valente EM, Wali GM, Warner TT, Jarman PR, Schapira AHV, Dixon PH, Davis MB, Bhatia KP, Wood NW
  • Publication date:
    2002
  • Pagination:
    717, 725
  • Journal:
    Movement Disorders
  • Volume:
    17
  • Issue:
    4
  • Print ISSN:
    0885-3185
  • Keywords:
    adolescent, adult, Athetosis, British, Child, Chorea, Choreatic Disorders, CHROMOSOME, Chromosome Aberrations, Chromosome Mapping, Chromosomes, Pair 16, clinical, diagnosis, DURATION, Dystonic Disorders, families, family, Female, GENE, Genes, Dominant, genetic, Genetic Heterogeneity, Genetic Markers, genetics, Heterogeneity, heterogeneous, IM, Indian, infant, Infantile, LA, Linkage, LOCI, Lod Score, Male, MARKER, Markers, Middle Age, Motor Activity, Movement, neurology, Pedigree, Phenotype, Polymerase Chain Reaction, relationship, seizure, Seizures, Spasms, Infantile, STATE, STATES, Support, Non-U.S.Gov't, united, United States, UNITED-STATES
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
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Clinical and Movement Neurosciences
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Clinical and Movement Neurosciences
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Clinical and Movement Neurosciences
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Clinical and Movement Neurosciences
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