Localization and mutation detection for paroxysmal kinesigenic choreoathetosis

J Mol Neurosci. 2008 Feb;34(2):101-7. doi: 10.1007/s12031-007-9012-z. Epub 2007 Oct 19.


Background: Paroxysmal kinesigenic choreoathetosis (PKC) is an autosomal-dominant movement disorder characterized by attacks of paroxysmal involuntary movements. To date, the causative gene has not been discovered.

Purpose: The purpose of the study is to localize the causative region and detect the causative mutation.

Methods: A PKC family including 16 subjects (5 cases and 11 controls) in Zhejiang Province was recruited. Nine microsatellite markers on chromosome 16 were selected and genotyped. Two-point LOD scores were calculated. After preliminary localization, CACNG3, IL4R and ABCC11 were selected as candidate genes and were detected by polymerase chain reaction-sequencing or PCR-denaturing high performance liquid chromatography (PCR-DHPLC).

Results: The maximal two-point LOD score was obtained in D16S3081 with 1.21, and haplotype analysis revealed almost all of individuals carrying 5-3-8-3-4-2-5-5-6 in D16S3093/D16S685/D16S690/D16S3081/D16S3080 D16S411/D16S3136/D16S3112/D16S3057 were affected by PKC. There were no causative mutation in CACNG3, IL4R and ABCC11 genes.

Conclusions: The culprit gene for PKC was located in approximately 19.34 cM region between 16p12.1-q13, and CACNG3, IL4R and ABCC11 were all ruled out as the cause.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Athetosis / genetics*
  • China
  • Chorea / genetics*
  • Chromosomes, Human, Pair 16
  • DNA Mutational Analysis
  • Female
  • Genetic Linkage
  • Genotype
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Pedigree
  • Polymorphism, Single Nucleotide