Document Detail

Paroxysmal kinesigenic choreoathetosis: evidence of linkage to the pericentromeric region of chromosome 16 in four Chinese families.
MedLine Citation:
PMID:  20158512     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Paroxysmal kinesigenic choreoathetosis (PKC) is an autosomal dominant condition characterized by abnormal involuntary movements precipitated by sudden movement. The pericentromeric region of chromosome 16 has been linked to PKC by several reports. This study was to localize and identify PKC gene in four Chinese PKC families. METHODS: Genetic linkage mapping with eight markers spanning chromosome 16p12-q13 was performed in 43 family members. Genome-wide single nucleotide polymorphism (SNP) scans were performed on four individuals in Family 1 in which infantile convulsion (IC) was co-inherited with PKC. RESULTS: Individuals in Family 1 presented with both IC and paroxysmal choreoathetosis (ICCA), and Families 2, 3, and 4 presented only with PKC. Evidence for linkage was found with a maximum two-point LOD score of 4.89 for D16S690 (theta = 0.0) and a maximum multipoint LOD score was 5.34 between D16S3080 and D16S3136. Haplotype analysis showed the disease locus was between D16S3093 and D16S3057. A total of 84 SNPs spanned on 16q12.1-q13 was not segregated with the PKC phenotype, which defined an unlinked region from rs9933187 to rs8044753. Thus, the critical region of the PKC gene is across the pericentromeric region of chromosome 16, and most likely maps to a region of 20.5 Mb (6.2 cM) between D16S3093 and rs9933187 (16p11.2-q12.1). CONCLUSION: The assignment of the locus for PKC to the pericentromeric region of chromosome 16 is confirmed and putatively narrowed in the present study.
X Wang; W Sun; X Zhu; L Li; T Du; W Mao; X Wu; H Wei; S Zhu; Y Sun; Y Liu; N Niu; Y Wang; Y Liu
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-02-10
Journal Detail:
Title:  European journal of neurology : the official journal of the European Federation of Neurological Societies     Volume:  17     ISSN:  1468-1331     ISO Abbreviation:  Eur. J. Neurol.     Publication Date:  2010 Jun 
Date Detail:
Created Date:  2010-07-01     Completed Date:  2010-09-28     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9506311     Medline TA:  Eur J Neurol     Country:  England    
Other Details:
Languages:  eng     Pagination:  800-7     Citation Subset:  IM    
National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, Beijing, China.
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MeSH Terms
Aged, 80 and over
Asian Continental Ancestry Group / genetics
Chorea / genetics*
Chromosome Mapping
Chromosomes, Human, Pair 16 / genetics*
Genetic Predisposition to Disease*
Linkage (Genetics)
Microsatellite Repeats / genetics
Middle Aged
Polymorphism, Single Nucleotide
Young Adult

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