Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity.
Inherited myoclonus-dystonia (IMD) is a new term used to describe an autosomal dominant form of myoclonus. Recently a family with IMD was linked to a region on chromosome 11q23 and a possible mutation identified in the D2 dopamine receptor. We have identified a large family with 12 affected individuals. Using linkage analysis and direct sequencing, the D2 receptor gene was excluded as a cause of myoclonus in this family. These results indicate that the Val154Ile D2 receptor substitution is not the universal cause of IMD. This suggests either that it is a rare, family specific polymorphism not causative of IMD, or that IMD is genetically heterogeneous.
Grimes
D A
DA
Department of Medicine, The Ottawa Hospital, Canada.
Bulman
D
D
George-Hyslop
P S
PS
Lang
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AE
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D020821:Dystonic Disorders / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009207:Myoclonus / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D017448:Receptors, Dopamine D2 / Q000235:genetics
D017448:Receptors, Dopamine D2