Myoclonus-dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families
Myoclonus–dystonia syndrome (MDS) is an inherited movement disorder with clinical and genetic heterogeneity. The epsilon sarcoglycan (SGCE) gene is an important cause of MDS. We report the results of a clinical and genetic study of 20 patients from 11 families. We disclosed six novel and two previou...
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| Veröffentlicht in: | Movement disorders 2008-01, Vol.23 (1), p.28-34 |
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| creator | Nardocci, Nardo Zorzi, Giovanna Barzaghi, Chiara Zibordi, Federica Ciano, Claudia Ghezzi, Daniele Garavaglia, Barbara |
| description | Myoclonus–dystonia syndrome (MDS) is an inherited movement disorder with clinical and genetic heterogeneity. The epsilon sarcoglycan (SGCE) gene is an important cause of MDS. We report the results of a clinical and genetic study of 20 patients from 11 families. We disclosed six novel and two previously described mutations in nine families. The majority of patients had a phenotype of myoclonus and dystonia in combination, but clinical findings considered atypical, such a very early onset, distal myoclonus, and legs involvement, were detected in a significant proportion of cases. The disease course was variable, from progression to spontaneous remission of the motor symptoms. There were no obvious differences between mutation‐positive and ‐negative cases. © 2007 Movement Disorder Society |
| doi_str_mv | 10.1002/mds.21715 |
| format | Article |
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The epsilon sarcoglycan (SGCE) gene is an important cause of MDS. We report the results of a clinical and genetic study of 20 patients from 11 families. We disclosed six novel and two previously described mutations in nine families. The majority of patients had a phenotype of myoclonus and dystonia in combination, but clinical findings considered atypical, such a very early onset, distal myoclonus, and legs involvement, were detected in a significant proportion of cases. The disease course was variable, from progression to spontaneous remission of the motor symptoms. 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Prion diseases ; Disease Progression ; DNA Primers - genetics ; DNA, Complementary - genetics ; Dystonia - epidemiology ; Dystonia - genetics ; Dystonia - physiopathology ; Electromyography ; Exons - genetics ; Female ; Follow-Up Studies ; Humans ; Infant ; Male ; Medical sciences ; Middle Aged ; Molecular Chaperones - genetics ; Muscle, Skeletal - innervation ; Muscle, Skeletal - physiopathology ; Myoclonus - epidemiology ; Myoclonus - genetics ; Myoclonus - physiopathology ; myoclonus-dystonia ; Neurology ; neurophysiology ; pediatric ; Point Mutation - genetics ; Protein Splicing - genetics ; Sarcoglycans - genetics ; Syndrome ; Upper Extremity - physiopathology ; ϵ-sarcoglycan gene</subject><ispartof>Movement disorders, 2008-01, Vol.23 (1), p.28-34</ispartof><rights>Copyright © 2007 Movement Disorder Society</rights><rights>2008 INIST-CNRS</rights><rights>2007 Movement Disorder Society</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4575-be21954d4d0de6f8778eb45b190c23806e32a6c21b0d85e8a60d4c26f74d55e3</citedby><cites>FETCH-LOGICAL-c4575-be21954d4d0de6f8778eb45b190c23806e32a6c21b0d85e8a60d4c26f74d55e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fmds.21715$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fmds.21715$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=20053852$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17853490$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Nardocci, Nardo</creatorcontrib><creatorcontrib>Zorzi, Giovanna</creatorcontrib><creatorcontrib>Barzaghi, Chiara</creatorcontrib><creatorcontrib>Zibordi, Federica</creatorcontrib><creatorcontrib>Ciano, Claudia</creatorcontrib><creatorcontrib>Ghezzi, Daniele</creatorcontrib><creatorcontrib>Garavaglia, Barbara</creatorcontrib><title>Myoclonus-dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families</title><title>Movement disorders</title><addtitle>Mov. Disord</addtitle><description>Myoclonus–dystonia syndrome (MDS) is an inherited movement disorder with clinical and genetic heterogeneity. The epsilon sarcoglycan (SGCE) gene is an important cause of MDS. We report the results of a clinical and genetic study of 20 patients from 11 families. We disclosed six novel and two previously described mutations in nine families. The majority of patients had a phenotype of myoclonus and dystonia in combination, but clinical findings considered atypical, such a very early onset, distal myoclonus, and legs involvement, were detected in a significant proportion of cases. The disease course was variable, from progression to spontaneous remission of the motor symptoms. There were no obvious differences between mutation‐positive and ‐negative cases. © 2007 Movement Disorder Society</description><subject>Adolescent</subject><subject>Adult</subject><subject>Age of Onset</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosomes, Human, Pair 7 - genetics</subject><subject>clinical features</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Disease Progression</subject><subject>DNA Primers - genetics</subject><subject>DNA, Complementary - genetics</subject><subject>Dystonia - epidemiology</subject><subject>Dystonia - genetics</subject><subject>Dystonia - physiopathology</subject><subject>Electromyography</subject><subject>Exons - genetics</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>Humans</subject><subject>Infant</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Molecular Chaperones - genetics</subject><subject>Muscle, Skeletal - innervation</subject><subject>Muscle, Skeletal - physiopathology</subject><subject>Myoclonus - epidemiology</subject><subject>Myoclonus - genetics</subject><subject>Myoclonus - physiopathology</subject><subject>myoclonus-dystonia</subject><subject>Neurology</subject><subject>neurophysiology</subject><subject>pediatric</subject><subject>Point Mutation - genetics</subject><subject>Protein Splicing - genetics</subject><subject>Sarcoglycans - genetics</subject><subject>Syndrome</subject><subject>Upper Extremity - physiopathology</subject><subject>ϵ-sarcoglycan gene</subject><issn>0885-3185</issn><issn>1531-8257</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0MFu1DAQgGELgehSOPACyBeQkJrWdjKxlxvaQkHaFgkqVeJiOfakMiTO4kkEeXsCu5QT4uTLNzPyz9hTKU6lEOqsD3SqpJZwj60klLIwCvR9thLGQFFKA0fsEdEXIaQEWT9kR1IbKKu1WLHby3nw3ZAmKsJM45Ci4zSnkIceX_FNF1P0ruO7jIRpdGMc0gkPkdARcj9MmfCEuxT4LSYco-ctunFaNI-JS8lb18cuIj1mD1rXET45vMfs-u2b6827Yvvh4v3m9bbwFWgoGlRyDVWogghYt0Zrg00FjVwLr0ojaiyVq72SjQgG0LhahMqrutVVAMDymL3Yr93l4duENNo-kseucwmHiawWCqDU8F-ollRrA_UCX-6hzwNRxtbucuxdnq0U9ld9u9S3v-sv9tlh6dT0GP7KQ-4FPD8AR0vWNrvkI905JQSUBtTizvbue-xw_vdFe3n-6c_pYj8RacQfdxMuf7W1Xj5sb64u7I262n7-eK5sXf4E8N6qww</recordid><startdate>200801</startdate><enddate>200801</enddate><creator>Nardocci, Nardo</creator><creator>Zorzi, Giovanna</creator><creator>Barzaghi, Chiara</creator><creator>Zibordi, Federica</creator><creator>Ciano, Claudia</creator><creator>Ghezzi, Daniele</creator><creator>Garavaglia, Barbara</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>200801</creationdate><title>Myoclonus-dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families</title><author>Nardocci, Nardo ; Zorzi, Giovanna ; Barzaghi, Chiara ; Zibordi, Federica ; Ciano, Claudia ; Ghezzi, Daniele ; Garavaglia, Barbara</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4575-be21954d4d0de6f8778eb45b190c23806e32a6c21b0d85e8a60d4c26f74d55e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Age of Onset</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosomes, Human, Pair 7 - genetics</topic><topic>clinical features</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>Disease Progression</topic><topic>DNA Primers - genetics</topic><topic>DNA, Complementary - genetics</topic><topic>Dystonia - epidemiology</topic><topic>Dystonia - genetics</topic><topic>Dystonia - physiopathology</topic><topic>Electromyography</topic><topic>Exons - genetics</topic><topic>Female</topic><topic>Follow-Up Studies</topic><topic>Humans</topic><topic>Infant</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Molecular Chaperones - genetics</topic><topic>Muscle, Skeletal - innervation</topic><topic>Muscle, Skeletal - physiopathology</topic><topic>Myoclonus - epidemiology</topic><topic>Myoclonus - genetics</topic><topic>Myoclonus - physiopathology</topic><topic>myoclonus-dystonia</topic><topic>Neurology</topic><topic>neurophysiology</topic><topic>pediatric</topic><topic>Point Mutation - genetics</topic><topic>Protein Splicing - genetics</topic><topic>Sarcoglycans - genetics</topic><topic>Syndrome</topic><topic>Upper Extremity - physiopathology</topic><topic>ϵ-sarcoglycan gene</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Nardocci, Nardo</creatorcontrib><creatorcontrib>Zorzi, Giovanna</creatorcontrib><creatorcontrib>Barzaghi, Chiara</creatorcontrib><creatorcontrib>Zibordi, Federica</creatorcontrib><creatorcontrib>Ciano, Claudia</creatorcontrib><creatorcontrib>Ghezzi, Daniele</creatorcontrib><creatorcontrib>Garavaglia, Barbara</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Movement disorders</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Nardocci, Nardo</au><au>Zorzi, Giovanna</au><au>Barzaghi, Chiara</au><au>Zibordi, Federica</au><au>Ciano, Claudia</au><au>Ghezzi, Daniele</au><au>Garavaglia, Barbara</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Myoclonus-dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families</atitle><jtitle>Movement disorders</jtitle><addtitle>Mov. 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There were no obvious differences between mutation‐positive and ‐negative cases. © 2007 Movement Disorder Society</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>17853490</pmid><doi>10.1002/mds.21715</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Adult Age of Onset Biological and medical sciences Child Child, Preschool Chromosomes, Human, Pair 7 - genetics clinical features Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Disease Progression DNA Primers - genetics DNA, Complementary - genetics Dystonia - epidemiology Dystonia - genetics Dystonia - physiopathology Electromyography Exons - genetics Female Follow-Up Studies Humans Infant Male Medical sciences Middle Aged Molecular Chaperones - genetics Muscle, Skeletal - innervation Muscle, Skeletal - physiopathology Myoclonus - epidemiology Myoclonus - genetics Myoclonus - physiopathology myoclonus-dystonia Neurology neurophysiology pediatric Point Mutation - genetics Protein Splicing - genetics Sarcoglycans - genetics Syndrome Upper Extremity - physiopathology ϵ-sarcoglycan gene |
| title | Myoclonus-dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families |
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