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 |
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| container_title | Molecular neurobiology |
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| creator | Rachad, Laila El Kadmiri, Nadia Slassi, Ilham El Otmani, Hicham Nadifi, Sellama |
| description | 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. |
| doi_str_mv | 10.1007/s12035-016-9712-x |
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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.</description><identifier>ISSN: 0893-7648</identifier><identifier>EISSN: 1559-1182</identifier><identifier>DOI: 10.1007/s12035-016-9712-x</identifier><identifier>PMID: 26790671</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>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</subject><ispartof>Molecular neurobiology, 2017-03, Vol.54 (2), p.939-942</ispartof><rights>Springer Science+Business Media New York 2016</rights><rights>Molecular Neurobiology is a copyright of Springer, 2017.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c405t-69038f4098031bb956747c652ba5c6d04b5ca883b794c94a0b17a8a275ab6153</citedby><cites>FETCH-LOGICAL-c405t-69038f4098031bb956747c652ba5c6d04b5ca883b794c94a0b17a8a275ab6153</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s12035-016-9712-x$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s12035-016-9712-x$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26790671$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Rachad, Laila</creatorcontrib><creatorcontrib>El Kadmiri, Nadia</creatorcontrib><creatorcontrib>Slassi, Ilham</creatorcontrib><creatorcontrib>El Otmani, Hicham</creatorcontrib><creatorcontrib>Nadifi, Sellama</creatorcontrib><title>Genetic Aspects of Myoclonus–Dystonia Syndrome (MDS)</title><title>Molecular neurobiology</title><addtitle>Mol Neurobiol</addtitle><addtitle>Mol Neurobiol</addtitle><description>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. 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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.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>26790671</pmid><doi>10.1007/s12035-016-9712-x</doi><tpages>4</tpages></addata></record> |
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| subjects | 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 |
| title | Genetic Aspects of Myoclonus–Dystonia Syndrome (MDS) |
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