Genetic Aspects of Myoclonus–Dystonia Syndrome (MDS)

Myoclonus–dystonia (M–D) is an autosomal-dominant movement disorder with onset in the first two decades of life. Mutations in the epsilon-sarcoglycan gene (SGCE, DYT11) on chromosome 7q21–q31 represent the major genetic cause of M–D in some populations. The syndrome was related with mutations in two...

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Veröffentlicht in:	Molecular neurobiology 2017-03, Vol.54 (2), p.939-942
Hauptverfasser:	Rachad, Laila, El Kadmiri, Nadia, Slassi, Ilham, El Otmani, Hicham, Nadifi, Sellama
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Biomedical and Life Sciences Biomedicine Cell Biology Dystonia Musculorum Deformans - diagnosis Dystonia Musculorum Deformans - epidemiology Dystonia Musculorum Deformans - genetics Dystonic Disorders - diagnosis Dystonic Disorders - epidemiology Dystonic Disorders - genetics Genetic disorders Genetic Predisposition to Disease - epidemiology Genetic Predisposition to Disease - genetics Humans Mutation Mutation - genetics Neurobiology Neurology Neurosciences Review Sarcoglycans - genetics
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Zusammenfassung:	Myoclonus–dystonia (M–D) is an autosomal-dominant movement disorder with onset in the first two decades of life. Mutations in the epsilon-sarcoglycan gene (SGCE, DYT11) on chromosome 7q21–q31 represent the major genetic cause of M–D in some populations. The syndrome was related with mutations in two other genes (DRD2 and DYT1). A second locus has been reported in one large M–D family (DYT15, 18p11), but no gene has been identified yet. In this review, we discuss genetic aspects of myoclonus–dystonia.
ISSN:	0893-7648 1559-1182
DOI:	10.1007/s12035-016-9712-x