Open AccessFunctional Magnetic Resonance Imaging Evidence of Incomplete Maternal Imprinting in Myoclonus-Dystonia
Author(s) -
Richard J. Beukers,
E.M.J. Foncke,
Johan N. van der Meer,
Dick J. Veltman,
Marina A. J. Tijssen
Publication year - 2011
Publication title -
archives of neurology
Language(s) - English
Resource type - Journals
eISSN - 1538-3687
pISSN - 0003-9942
DOI - 10.1001/archneurol.2011.23
Subject(s) - functional magnetic resonance imaging , dystonia , asymptomatic carrier , mutation , myoclonus , magnetic resonance imaging , neuroscience , asymptomatic , psychology , medicine , genetics , biology , gene , radiology
Myoclonus-dystonia is an autosomal dominantly inherited movement disorder, clinically characterized by myoclonic jerks and dystonic postures or movements. A previous functional magnetic resonance imaging study showed altered cortical activation patterns in clinically affected SGCE mutation carriers when compared with controls consistent with defective sensorimotor integration. Genetically, the disorder is characterized by the maternal imprinting mechanism; ie, patients who inherit the mutation from their fathers will develop symptoms. However, several clinically manifest patients with myoclonus-dystonia who inherited the mutation from their mother have been described.