| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
|
|
|
|||||||
|
|||||||||
From the Departments of Internal Medicine (Drs. Bennett and Bowcock) and Neurology (Dr. Roach), University of Texas Southwestern Medical Center, Dallas, TX.
Address correspondence and reprint requests to Dr. Anne M. Bowcock, Departments of Genetics and Pediatrics, Washington University School of Medicine, Box 8232, 4566 Scott Avenue, St. Louis, MO 63110; e-mail: bowcock{at}genetics.wustl.edu
OBJECTIVE: To use genetic linkage analysis to localize a gene for paroxysmal kinesigenic dyskinesia (PKD) in a three generation African-American kindred.
BACKGROUND: PKD is a rare autosomal dominant disorder characterized by episodic choreiform or dystonic movements that are brought on or exacerbated by voluntary movement. There are individuals with the clinical features of PKD but with no family history of the disease, but whether these sporadic cases represent spontaneous mutations of PKD or have a distinct condition is unknown.
METHODS: A genome-wide linkage scan of polymorphic microsatellites at 25 cM resolution was performed to localize a gene for PKD in one African-American kindred. Pairwise multipoint linkage analyses were performed at different penetrance estimates.
RESULTS: Evidence for linkage of the kinesigenic form of paroxysmal dyskinesia to chromosome 16 was obtained. A maximum lod score of 4.40 at 
= 0 was obtained with D16S419. Critical recombinants place the PKD gene between D16S3100 and D16S771.
CONCLUSIONS: A paroxysmal kinesigenic dyskinesia (PKD) locus lies within an 18 cM interval on 16p11.2-q11.2, between D16S3100 and D16S771. A gene for infantile convulsions with paroxysmal choreoathetosis has also been mapped to this region. These two regions overlap by approximately 6 cM. These two diseases could be caused by different mutations in the same gene or two distinct genes may lie within this region.
Key words: Paroxysmal dyskinesia—Linkage—Chromosome 16—Polymorphic microsatellites
This article has been cited by other articles:
|
|
 |
|
  J. Lipton and M. J. Rivkin 16p11.2-RELATED PAROXYSMAL KINESIGENIC DYSKINESIA AND DOPA-RESPONSIVE PARKINSONISM IN A CHILD Neurology, August 11, 2009; 73(6): 479 - 480. [Full Text] [PDF]
|
|
|
|
 |
|
 U. Muller The monogenic primary dystonias Brain, August 1, 2009; 132(8): 2005 - 2025. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J Rochette, P Roll, and P Szepetowski Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes J. Med. Genet., December 1, 2008; 45(12): 773 - 779. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 I. Unterberger and E. Trinka Review: Diagnosis and treatment of paroxysmal dyskinesias revisited Therapeutic Advances in Neurological Disorders, September 1, 2008; 1(2): 67 - 74. [Abstract] [PDF]
|
|
|
|
 |
|
 B. Yulug, M. Bakar, H. Ozer H, M. Yilmaz, and B. Unlu Paroxysmal Kinesigenic Dyskinesia and Cervical Disc Prolapse With Cord Compression: More Than a Coincidence? J Neuropsychiatry Clin Neurosci, May 1, 2008; 20(2): 237 - 239. [Full Text] [PDF]
|
|
|
|
|
|
P. Mir, Y.-Z. Huang, F. Gilio, M. J. Edwards, A. Berardelli, J. C. Rothwell, and K. P. Bhatia Abnormal cortical and spinal inhibition in paroxysmal kinesigenic dyskinesia Brain, February 1, 2005; 128(2): 291 - 299. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. K. Bruno, M. Hallett, K. Gwinn-Hardy, B. Sorensen, E. Considine, S. Tucker, D. R. Lynch, K. D. Mathews, K. J. Swoboda, J. Harris, et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: New diagnostic criteria Neurology, December 28, 2004; 63(12): 2280 - 2287. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. H. Caraballo, R. O. Cersosimo, H. Amartino, P. Szepetowski, and N. Fejerman Benign Familial Infantile Seizures: Further Delineation of the Syndrome J Child Neurol, September 1, 2002; 17(9): 696 - 699. [Abstract] [PDF]
|
|
|
|
|
|
A. H. Nemeth The genetics of primary dystonias and related disorders Brain, April 1, 2002; 125(4): 695 - 721. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. Capovilla and F. Vigevano Topical Review: Benign Idiopathic Partial Epilepsies in Infancy J Child Neurol, December 1, 2001; 16(12): 874 - 881. [Abstract] [PDF]
|
|
|
|
|
|
E. M. Valente, S. D. Spacey, G. M. Wali, K. P. Bhatia, P. H. Dixon, N. W. Wood, and M. B. Davis A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16 Brain, October 1, 2000; 123(10): 2040 - 2045. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. Guerrini, L. Parmeggiani, P. Bonanni, R. Carrozzo, G. Casari, L. Bennett, A. M. Bowcock, and E. S. Roach Locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16 Neurology, September 12, 2000; 55(5): 735 - 742. [Full Text]
|
|
|
|
|
|
K. J. Swoboda, B.-W. Soong, C. McKenna, E. R. P. Brunt, M. Litt, J. F. Bale Jr., T. Ashizawa, L. B. Bennett, A. M. Bowcock, E. S. Roach, et al. Paroxysmal kinesigenic dyskinesia and infantile convulsions: Clinical and linkage studies Neurology, July 25, 2000; 55(2): 224 - 230. [Abstract] [Full Text] [PDF]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
