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Inherited myoclonus-dystonia: Evidence supporting genetic heterogeneity

✍ Scribed by D.A. Grimes; D. Bulman; P. St. George-Hyslop; A.E. Lang

Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
46 KB
Volume
16
Category
Article
ISSN
0885-3185

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✦ Synopsis

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.

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