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Inherited myoclonus‐dystonia: Evidence supporting genetic heterogeneity
Author(s) -
Grimes D.A.,
Bulman D.,
St. GeorgeHyslop P.,
Lang A.E.
Publication year - 2001
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/1531-8257(200101)16:1<106::aid-mds1022>3.0.co;2-7
Subject(s) - myoclonus , dystonia , genetics , genetic heterogeneity , biology , genetic linkage , progressive myoclonus epilepsy , neuroscience , gene , phenotype
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. Mov. Disord. 16:106–110, 2001. © 2001 Movement Disorder Society.