Update on genetics of essential tremor
Despite the research, few advances in the etiopathogenesis on essential tremor (ET) have been made to date. The high frequency of positive family history of ET and the observed high concordance rates in monozygotic compared with dizygotic twins support a major role of genetic factors in the developm...
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| Veröffentlicht in: | Acta neurologica Scandinavica 2013-12, Vol.128 (6), p.359-371 |
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| container_title | Acta neurologica Scandinavica |
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| creator | Jiménez-Jiménez, F. J. Alonso-Navarro, H. García-Martín, E. Lorenzo-Betancor, O. Pastor, P. Agúndez, J. A. G. |
| description | Despite the research, few advances in the etiopathogenesis on essential tremor (ET) have been made to date. The high frequency of positive family history of ET and the observed high concordance rates in monozygotic compared with dizygotic twins support a major role of genetic factors in the development of ET. In addition, a possible role of environmental factors has been suggested in the etiology of ET (at least in non‐familial forms). Although several gene variants in the LINGO1 gene may increase the risk of ET, to date no causative mutated genes have been identified. In this review, we summarize the studies performed on families with tremor, twin studies, linkage studies, case–control association studies, and exome sequencing in familial ET. |
| doi_str_mv | 10.1111/ane.12148 |
| format | Article |
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J.</creatorcontrib><creatorcontrib>Alonso-Navarro, H.</creatorcontrib><creatorcontrib>García-Martín, E.</creatorcontrib><creatorcontrib>Lorenzo-Betancor, O.</creatorcontrib><creatorcontrib>Pastor, P.</creatorcontrib><creatorcontrib>Agúndez, J. A. G.</creatorcontrib><title>Update on genetics of essential tremor</title><title>Acta neurologica Scandinavica</title><addtitle>Acta Neurol Scand</addtitle><description>Despite the research, few advances in the etiopathogenesis on essential tremor (ET) have been made to date. The high frequency of positive family history of ET and the observed high concordance rates in monozygotic compared with dizygotic twins support a major role of genetic factors in the development of ET. In addition, a possible role of environmental factors has been suggested in the etiology of ET (at least in non‐familial forms). Although several gene variants in the LINGO1 gene may increase the risk of ET, to date no causative mutated genes have been identified. In this review, we summarize the studies performed on families with tremor, twin studies, linkage studies, case–control association studies, and exome sequencing in familial ET.</description><subject>Databases, Bibliographic - statistics & numerical data</subject><subject>Environmental factors</subject><subject>essential tremor</subject><subject>Essential Tremor - epidemiology</subject><subject>Essential Tremor - etiology</subject><subject>Essential Tremor - genetics</subject><subject>family history</subject><subject>Genes</subject><subject>genetic polymorphisms</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Genetics</subject><subject>Genome-Wide Association Study</subject><subject>Humans</subject><subject>linkage studies</subject><subject>Membrane Proteins - genetics</subject><subject>Mutation - genetics</subject><subject>Nerve Tissue Proteins - genetics</subject><subject>Twin Studies as Topic</subject><subject>Twins</subject><issn>0001-6314</issn><issn>1600-0404</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqN0F1LHTEQBuBQWvT4cdE_UBYKRS9WZ7KzyXoparUoCh7F3oVsMiure3ZPkz1Y_73Ro14IheYmDDzzwrxCfEXYwfR2bc87KJGqT2KCCiAHAvosJgCAuSqQVsVajHdpkppoRazKQlVSyWIiflzPvR05G_rslnseWxezock4Ru7H1nbZGHg2hA3xpbFd5M3Xf11c_zy6OjjJzy6Ofx3sn-WOJFW5drquQSF7gto6Qu0JfdWQL1WtnKy4BsfeOs9M1Mg0VIC104TO2toX62JrmTsPw58Fx9HM2ui469KJwyIaJEUlkoa9_6CkETRqlej3D_RuWIQ-HfKsSiil3CuT2l4qF4YYAzdmHtqZDY8GwTz3bFKyeek52W-viYt6xv5dvhWbwO4SPLQdP_47yeyfH71F5suNNo78933DhnujdKFLc3N-bKZweXg6nd6Y38UT5WGUQA</recordid><startdate>201312</startdate><enddate>201312</enddate><creator>Jiménez-Jiménez, F. 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Although several gene variants in the LINGO1 gene may increase the risk of ET, to date no causative mutated genes have been identified. In this review, we summarize the studies performed on families with tremor, twin studies, linkage studies, case–control association studies, and exome sequencing in familial ET.</abstract><cop>Denmark</cop><pub>Blackwell Publishing Ltd</pub><pmid>23682623</pmid><doi>10.1111/ane.12148</doi><tpages>13</tpages></addata></record> |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Databases, Bibliographic - statistics & numerical data Environmental factors essential tremor Essential Tremor - epidemiology Essential Tremor - etiology Essential Tremor - genetics family history Genes genetic polymorphisms Genetic Predisposition to Disease - genetics Genetics Genome-Wide Association Study Humans linkage studies Membrane Proteins - genetics Mutation - genetics Nerve Tissue Proteins - genetics Twin Studies as Topic Twins |
| title | Update on genetics of essential tremor |
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