Phenotypic expression of the DYT1 mutation: A family with writer's cramp of juvenile onset
Recently, the mutation causing early‐onset generalized torsion dystonia has been identified as a GAG deletion in the gene for an adenosine triphosphate–binding protein named torsinA. We describe a German family with 5 clinically affected individuals carrying this mutation. In at least 4 of the 5 pat...
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| Veröffentlicht in: | Annals of neurology 1998-07, Vol.44 (1), p.126-128 |
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| container_title | Annals of neurology |
| container_volume | 44 |
| creator | Gasser, T. Windgassen, K. Bereznai, B. Kabus, C. Ludolph, A. C. |
| description | Recently, the mutation causing early‐onset generalized torsion dystonia has been identified as a GAG deletion in the gene for an adenosine triphosphate–binding protein named torsinA. We describe a German family with 5 clinically affected individuals carrying this mutation. In at least 4 of the 5 patients, the disease presented as a dystonic writer's cramp during late childhood or adolescence, which affected sequentially both sides but did not progress to a generalized form of dystonia. We conclude that familial writer's cramp may be a manifestation of the DYT1 mutation. |
| doi_str_mv | 10.1002/ana.410440119 |
| format | Article |
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Neuromuscular diseases ; DNA Mutational Analysis ; Dystonia Musculorum Deformans - genetics ; Female ; Genetic Linkage ; Genetic Markers ; Handwriting ; Humans ; Lod Score ; Male ; Medical sciences ; Middle Aged ; Muscle Cramp - genetics ; Neurology ; Pedigree ; Phenotype ; Point Mutation ; Sequence Deletion</subject><ispartof>Annals of neurology, 1998-07, Vol.44 (1), p.126-128</ispartof><rights>Copyright © 1998 American Neurological Association</rights><rights>1998 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4039-325636ecbea5b71d63fa27d41d92f58d1b15634ccd6b9ed8636bab4d69b45a693</citedby><cites>FETCH-LOGICAL-c4039-325636ecbea5b71d63fa27d41d92f58d1b15634ccd6b9ed8636bab4d69b45a693</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%2Fana.410440119$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fana.410440119$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2330693$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9667600$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Gasser, T.</creatorcontrib><creatorcontrib>Windgassen, K.</creatorcontrib><creatorcontrib>Bereznai, B.</creatorcontrib><creatorcontrib>Kabus, C.</creatorcontrib><creatorcontrib>Ludolph, A. C.</creatorcontrib><title>Phenotypic expression of the DYT1 mutation: A family with writer's cramp of juvenile onset</title><title>Annals of neurology</title><addtitle>Ann Neurol</addtitle><description>Recently, the mutation causing early‐onset generalized torsion dystonia has been identified as a GAG deletion in the gene for an adenosine triphosphate–binding protein named torsinA. We describe a German family with 5 clinically affected individuals carrying this mutation. In at least 4 of the 5 patients, the disease presented as a dystonic writer's cramp during late childhood or adolescence, which affected sequentially both sides but did not progress to a generalized form of dystonia. We conclude that familial writer's cramp may be a manifestation of the DYT1 mutation.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>DNA Mutational Analysis</subject><subject>Dystonia Musculorum Deformans - genetics</subject><subject>Female</subject><subject>Genetic Linkage</subject><subject>Genetic Markers</subject><subject>Handwriting</subject><subject>Humans</subject><subject>Lod Score</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Muscle Cramp - genetics</subject><subject>Neurology</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Point Mutation</subject><subject>Sequence Deletion</subject><issn>0364-5134</issn><issn>1531-8249</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE1v1DAQhi0EKtvCkSOSDwhOKePYcdbctgUKoiocFi1wsRxnonXJF7bT7f57XG204sRpJM8zM68fQl4wOGcA-VvTm3PBQAhgTD0iC1Zwli1zoR6TBXApsoJx8ZSchnALAEoyOCEnSspSAizIr29b7Ie4H52leD96DMENPR0aGrdI3_9cM9pN0cT0-I6uaGM61-7pzsUt3XkX0b8J1HrTjQ8jt9Md9q5FOvQB4zPypDFtwOdzPSPfP35YX37Krr9efb5cXWdWAFcZzwvJJdoKTVGVrJa8MXlZC1arvCmWNatYAoS1tawU1ssEV6YStVSVKIxU_Iy8Puwd_fBnwhB154LFtjU9DlPQy_RtyRkkMDuA1g8heGz06F1n_F4z0A8udXKpjy4T_3JePFUd1kd6lpf6r-a-Cda0jTe9deGI5ZxDipew8oDtkpr9_2_q1c3q3wBzYBci3h8njf-tZcnLQm9urvSXC9isN1DqH_wvb3ObFg</recordid><startdate>199807</startdate><enddate>199807</enddate><creator>Gasser, T.</creator><creator>Windgassen, K.</creator><creator>Bereznai, B.</creator><creator>Kabus, C.</creator><creator>Ludolph, A. 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Neuromuscular diseases</topic><topic>DNA Mutational Analysis</topic><topic>Dystonia Musculorum Deformans - genetics</topic><topic>Female</topic><topic>Genetic Linkage</topic><topic>Genetic Markers</topic><topic>Handwriting</topic><topic>Humans</topic><topic>Lod Score</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Muscle Cramp - genetics</topic><topic>Neurology</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Point Mutation</topic><topic>Sequence Deletion</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gasser, T.</creatorcontrib><creatorcontrib>Windgassen, K.</creatorcontrib><creatorcontrib>Bereznai, B.</creatorcontrib><creatorcontrib>Kabus, C.</creatorcontrib><creatorcontrib>Ludolph, A. 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C.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Phenotypic expression of the DYT1 mutation: A family with writer's cramp of juvenile onset</atitle><jtitle>Annals of neurology</jtitle><addtitle>Ann Neurol</addtitle><date>1998-07</date><risdate>1998</risdate><volume>44</volume><issue>1</issue><spage>126</spage><epage>128</epage><pages>126-128</pages><issn>0364-5134</issn><eissn>1531-8249</eissn><coden>ANNED3</coden><abstract>Recently, the mutation causing early‐onset generalized torsion dystonia has been identified as a GAG deletion in the gene for an adenosine triphosphate–binding protein named torsinA. We describe a German family with 5 clinically affected individuals carrying this mutation. In at least 4 of the 5 patients, the disease presented as a dystonic writer's cramp during late childhood or adolescence, which affected sequentially both sides but did not progress to a generalized form of dystonia. We conclude that familial writer's cramp may be a manifestation of the DYT1 mutation.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>9667600</pmid><doi>10.1002/ana.410440119</doi><tpages>3</tpages></addata></record> |
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| ispartof | Annals of neurology, 1998-07, Vol.44 (1), p.126-128 |
| issn | 0364-5134 1531-8249 |
| language | eng |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Adolescent Adult Base Sequence Biological and medical sciences Diseases of striated muscles. Neuromuscular diseases DNA Mutational Analysis Dystonia Musculorum Deformans - genetics Female Genetic Linkage Genetic Markers Handwriting Humans Lod Score Male Medical sciences Middle Aged Muscle Cramp - genetics Neurology Pedigree Phenotype Point Mutation Sequence Deletion |
| title | Phenotypic expression of the DYT1 mutation: A family with writer's cramp of juvenile onset |
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