Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene.
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.
Spacey
Sian D
SD
Department of Molecular Pathogenesis, Institute of Neurology, University College London, London, United Kingdom.
Valente
Enza-Maria
EM
Wali
Gurusidheshwar M
GM
Warner
Thomas T
TT
Jarman
Paul R
PR
Schapira
Anthony H V
AH
Dixon
Peter H
PH
Davis
Mary B
MB
Bhatia
Kailash P
KP
Wood
Nicholas W
NW
D000293:Adolescent; D000328:Adult; D001264:Athetosis / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002819:Chorea / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D020821:Dystonic Disorders / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D018740:Genetic Heterogeneity; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007223:Infant; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D009043:Motor Activity / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D013036:Spasms, Infantile / Q000175:diagnosis / Q000235:genetics
D005819:Genetic Markers