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Review
. 2017 Mar;54(2):939-942.
doi: 10.1007/s12035-016-9712-x. Epub 2016 Jan 20.

Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS)

Laila Rachad  1 , Nadia El Kadmiri  2 , Ilham Slassi  1   3 , Hicham El Otmani  3 , Sellama Nadifi  1
Affiliations
Review

Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS)

Laila Rachad et al. Mol Neurobiol. 2017 Mar.

Abstract

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.

Keywords: DYT1; DYT11; DYT15; Myoclonus–dystonia; SGCE.

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