Brain, Vol 120, Issue 12 2125-2130, Copyright © 1997 by Oxford University Press
PR Jarman, MB Davis, SV Hodgson, CD Marsden and NW Wood
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 the disease interval to 4 cM and our findings provide
support for the involvement of the gene for the chloride/bicarbonate
exchanger as a candidate gene for PDC.
ARTICLES
Paroxysmal dystonic choreoathetosis. Genetic linkage studies in a British family
Department of Clinical Neurology, Guy's Hospital, London, UK.
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