Neuropediatrics 2002; 33(6): 288-293
DOI: 10.1055/s-2002-37079
Original Article

Georg Thieme Verlag Stuttgart · New York

Paroxysmal Kinesigenic Dyskinesia and Generalized Seizures: Clinical and Genetic Analysis in a Spanish Pedigree

E. Cuenca-Leon 1 , B. Cormand 2 , T. Thomson 3 , 4 , A. Macaya 1
  • 1Laboratori de Malalties Neurometabòliques, Hospital Materno-infantil Vall d'Hebron, Barcelona, Spain
  • 2Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Spain
  • 3Unitat Recerca Biomèdica, Hospital Vall d'Hebron, Barcelona
  • 4Institut de Biologia Molecular - CSIC, Barcelona, Spain
Further Information

Publication History

Received: 6 March 2002

Accepted after Revision: 21 July 2002

Publication Date:
06 February 2003 (online)

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Abstract

Familial paroxysmal kinesigenic dyskinesia (PKD) is a rare disorder featuring brief, dystonic or choreoathetotic attacks, typically triggered by sudden movements. Symptoms usually start in mid-childhood, although in several pedigrees infantile convulsions have been reported as the presenting sign. Previous linkage studies have identified two PKD loci on 16 p12.1-q21. We report here the clinical features of a Spanish kindred with autosomal dominant PKD, in which haplotype data are compatible with linkage to the pericentromeric region of chromosome 16 and exclude linkage to the locus for Paroxysmal Non Kinesigenic Dyskinesia (PNKD) on chromosome 2 q35. In this family, the conservative candidate region for the disease lies between markers D16S3145 and GATA140E03 on 16 p12.1-q21 and partially overlaps with both the Paroxysmal Kinesigenic Dyskinesia - Infantile Convulsions (PKD-IC) critical interval and the Episodic Kinesigenic Dyskinesia 2 (EKD2) locus. Unusual findings in our pedigree were early infantile onset of the dyskinesias in one patient and generalized seizures as adults in two, adding to previous observations of phenotypic overlap between epileptic and non-epileptic paroxysmal disorders. Further clinical and genetic studies are needed to elucidate whether PKD and PKD-IC are allelic disorders with age-dependent phenotypic expression.

References

Dr. Alfons Macaya

Secció Neurologia Infantil
Hospital Materno-infantil Vall d'Hebron

Pg. Vall d'Hebron 119 - 129

08035 Barcelona

Spain

Email: macaya@cs.vhebron.es