Paroxysmal dystonic choreoathetosis. Genetic linkage studies in a British family

Brain : a Journal of Neurology
P R JarmanN W Wood

Abstract

Paroxysmal dystonic choreoathetosis (PDC) is characterized by attacks of involuntary dystonic and choreoathetoid movements, typically several hours in duration with no sign of abnormality between attacks. Inheritance is autosomal dominant and the PDC locus has recently been assigned to the distal long arm of chromosome 2 in two families. We describe a six-generation British family with PDC and describe the results of fine genetic mapping and candidate gene linkage analysis. As part of a genome-wide search, linkage to chromosome 2q was confirmed in this family. Positive LOD scores were obtained for six markers on 2q. A LOD score of 5.08 at a recombination fraction of 0.0 was obtained for the marker D2S163. Construction of haplotypes allowed definition of a disease interval of 4 cM between the flanking markers D2S295 and D2S377. Polymorphic tandem repeats within the candidate genes CHRND (delta polypeptide of the nicotinic acetylcholine receptor) and SLC4A3 were examined yielding LOD scores of -7.68 and 6.08, respectively, at a recombination fraction of 0.0. This excludes CHRND as a candidate. Our data confirm the assignment of the locus for PDC to chromosome 2q and provide evidence for locus homogeneity in PDC. We have narrowed ...Continue Reading

Citations

Aug 6, 2000·Movement Disorders : Official Journal of the Movement Disorder Society·P R JarmanN W Wood
Sep 5, 2002·Movement Disorders : Official Journal of the Movement Disorder Society·Russell C DaleBrian G R Neville
Sep 5, 2001·Neurologic Clinics·J Friedman, D G Standaert
Sep 27, 2003·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Patrick J Morrison
May 16, 2000·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·J Guimarães, J Vale Santos
Apr 15, 2000·Journal of Neurology, Neurosurgery, and Psychiatry·A MünchauK P Bhatia
Sep 2, 2000·Current Opinion in Neurology·M Vidailhet
Sep 15, 2007·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Patrick J Morrison
Sep 15, 2006·Movement Disorders : Official Journal of the Movement Disorder Society·Elka StefanovaVladimir S Kostić
Oct 23, 1997·American Journal of Human Genetics·P R JarmanM B Davis

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