Studies of penetrance and anticipation in five autosomal-dominant restless legs syndrome pedigrees
Restless legs syndrome (RLS) can occur with an autosomal‐dominant mode of inheritance. To determine if there are distinguishing features of RLS pedigrees which might clarify molecular mechanisms of pathogenesis, five pedigrees with 81 affected members were analyzed for age of onset, sex ratio, and t...
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| Veröffentlicht in: | Movement disorders 1999-01, Vol.14 (1), p.111-116 |
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| creator | Lazzarini, Alice Walters, Arthur S. Hickey, Kathleen Coccagna, Giorgio Lugaresi, Elio Ehrenberg, Bruce L. Picchietti, Daniel L. Brin, Mitchell F. Stenroos, E. Scot Verrico, Tracy Johnson, William G. |
| description | Restless legs syndrome (RLS) can occur with an autosomal‐dominant mode of inheritance. To determine if there are distinguishing features of RLS pedigrees which might clarify molecular mechanisms of pathogenesis, five pedigrees with 81 affected members were analyzed for age of onset, sex ratio, and transmission pattern. One‐factor analysis of variance of ages of onset between generations was carried out, and segregation ratios were calculated for each generation. These kindreds showed an autosomal‐dominant mode of inheritance and a male:female ratio of 1:1.4 (p = 0.15). One of the five analyzed pedigrees shows some evidence of reduced penetrance. In two of the five analyzed pedigrees, there is statistical support for anticipation (p < 0.05). These variations in penetrance and anticipation suggest possible genetic heterogeneity. |
| doi_str_mv | 10.1002/1531-8257(199901)14:1<111::AID-MDS1018>3.0.CO;2-9 |
| format | Article |
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Scot ; Verrico, Tracy ; Johnson, William G.</creator><creatorcontrib>Lazzarini, Alice ; Walters, Arthur S. ; Hickey, Kathleen ; Coccagna, Giorgio ; Lugaresi, Elio ; Ehrenberg, Bruce L. ; Picchietti, Daniel L. ; Brin, Mitchell F. ; Stenroos, E. Scot ; Verrico, Tracy ; Johnson, William G.</creatorcontrib><description>Restless legs syndrome (RLS) can occur with an autosomal‐dominant mode of inheritance. To determine if there are distinguishing features of RLS pedigrees which might clarify molecular mechanisms of pathogenesis, five pedigrees with 81 affected members were analyzed for age of onset, sex ratio, and transmission pattern. One‐factor analysis of variance of ages of onset between generations was carried out, and segregation ratios were calculated for each generation. These kindreds showed an autosomal‐dominant mode of inheritance and a male:female ratio of 1:1.4 (p = 0.15). One of the five analyzed pedigrees shows some evidence of reduced penetrance. In two of the five analyzed pedigrees, there is statistical support for anticipation (p < 0.05). These variations in penetrance and anticipation suggest possible genetic heterogeneity.</description><identifier>ISSN: 0885-3185</identifier><identifier>EISSN: 1531-8257</identifier><identifier>DOI: 10.1002/1531-8257(199901)14:1<111::AID-MDS1018>3.0.CO;2-9</identifier><identifier>PMID: 9918352</identifier><language>eng</language><publisher>New York: John Wiley & Sons, Inc</publisher><subject>Adolescent ; Adult ; Aged ; Anticipation ; Anticipation, Genetic ; Autosomal dominant ; Biological and medical sciences ; Child ; Child, Preschool ; Chromosome Aberrations - genetics ; Chromosome Disorders ; Familial restless legs syndrome ; Female ; Genes, Dominant - genetics ; Genetic Predisposition to Disease - genetics ; Humans ; Infant ; Male ; Medical sciences ; Middle Aged ; Models, Genetic ; Nervous system (semeiology, syndromes) ; Nervous system as a whole ; Neurology ; Parental transmission ; Pedigree ; Penetrance ; Periodic limb movements in sleep ; Restless Legs Syndrome - diagnosis ; Restless Legs Syndrome - genetics ; Risk</subject><ispartof>Movement disorders, 1999-01, Vol.14 (1), p.111-116</ispartof><rights>Copyright © 1999 Movement Disorder Society</rights><rights>1999 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3718-1a76c0960e43c45b13969d4c9ca03204b0c9918b76a0f4eecb57538a156861f03</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%2F1531-8257%28199901%2914%3A1%3C111%3A%3AAID-MDS1018%3E3.0.CO%3B2-9$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2F1531-8257%28199901%2914%3A1%3C111%3A%3AAID-MDS1018%3E3.0.CO%3B2-9$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,4024,27923,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1642245$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9918352$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lazzarini, Alice</creatorcontrib><creatorcontrib>Walters, Arthur S.</creatorcontrib><creatorcontrib>Hickey, Kathleen</creatorcontrib><creatorcontrib>Coccagna, Giorgio</creatorcontrib><creatorcontrib>Lugaresi, Elio</creatorcontrib><creatorcontrib>Ehrenberg, Bruce L.</creatorcontrib><creatorcontrib>Picchietti, Daniel L.</creatorcontrib><creatorcontrib>Brin, Mitchell F.</creatorcontrib><creatorcontrib>Stenroos, E. Scot</creatorcontrib><creatorcontrib>Verrico, Tracy</creatorcontrib><creatorcontrib>Johnson, William G.</creatorcontrib><title>Studies of penetrance and anticipation in five autosomal-dominant restless legs syndrome pedigrees</title><title>Movement disorders</title><addtitle>Mov. Disord</addtitle><description>Restless legs syndrome (RLS) can occur with an autosomal‐dominant mode of inheritance. To determine if there are distinguishing features of RLS pedigrees which might clarify molecular mechanisms of pathogenesis, five pedigrees with 81 affected members were analyzed for age of onset, sex ratio, and transmission pattern. One‐factor analysis of variance of ages of onset between generations was carried out, and segregation ratios were calculated for each generation. These kindreds showed an autosomal‐dominant mode of inheritance and a male:female ratio of 1:1.4 (p = 0.15). One of the five analyzed pedigrees shows some evidence of reduced penetrance. In two of the five analyzed pedigrees, there is statistical support for anticipation (p < 0.05). These variations in penetrance and anticipation suggest possible genetic heterogeneity.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Anticipation</subject><subject>Anticipation, Genetic</subject><subject>Autosomal dominant</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosome Aberrations - genetics</subject><subject>Chromosome Disorders</subject><subject>Familial restless legs syndrome</subject><subject>Female</subject><subject>Genes, Dominant - genetics</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Humans</subject><subject>Infant</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Models, Genetic</subject><subject>Nervous system (semeiology, syndromes)</subject><subject>Nervous system as a whole</subject><subject>Neurology</subject><subject>Parental transmission</subject><subject>Pedigree</subject><subject>Penetrance</subject><subject>Periodic limb movements in sleep</subject><subject>Restless Legs Syndrome - diagnosis</subject><subject>Restless Legs Syndrome - genetics</subject><subject>Risk</subject><issn>0885-3185</issn><issn>1531-8257</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqVkV2L1DAYhYMo67j6E4ReiOhFx7zNR5tRhGXWXRdGB9lRwZuXNE2XuP0Yk1adf2_KjOONIF4kgbwnTw7nEKKAzoHS7AUIBmmRifwZKKUoPAe-gFcAsFicXZ2n786vgULxms3pfLl-maXqDpkd39wlM1oUImVQiPvkQQhfKQUQIE_IiVJQMJHNSHk9jJWzIenrZGs7O3jdGZvoroprcMZt9eD6LnFdUrvvcTAOfehb3aRV37ouahJvw9DYEJLG3oQk7LrK962NtMrdeGvDQ3Kv1k2wjw7nKfl48WazfJuu1pdXy7NValgORQo6l4YqSS1nhosSmJKq4kYZTVlGeUnN5LrMpaY1t9aUIhes0CBkIaGm7JQ83XO3vv82RlPYumBs0-jO9mNAqYQEJuQ_hVlMSXGZR-GHvdD4PgRva9x612q_Q6A4FYRT2DiFjfuCEDjGDQAxFoSHgpAhxeUaM1SR-fjw-Vi2tjoSD43E-ZPDXAejm3rqw4U_H0ueZVywY4g_XGN3_-Hr77Z-X0Vuuue6MNifR672txgDyQV-fn-JavPlYqM-rRDYL6IHxR4</recordid><startdate>199901</startdate><enddate>199901</enddate><creator>Lazzarini, Alice</creator><creator>Walters, Arthur S.</creator><creator>Hickey, Kathleen</creator><creator>Coccagna, Giorgio</creator><creator>Lugaresi, Elio</creator><creator>Ehrenberg, Bruce L.</creator><creator>Picchietti, Daniel L.</creator><creator>Brin, Mitchell F.</creator><creator>Stenroos, E. Scot</creator><creator>Verrico, Tracy</creator><creator>Johnson, William G.</creator><general>John Wiley & Sons, Inc</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>7X8</scope><scope>8BM</scope></search><sort><creationdate>199901</creationdate><title>Studies of penetrance and anticipation in five autosomal-dominant restless legs syndrome pedigrees</title><author>Lazzarini, Alice ; Walters, Arthur S. ; Hickey, Kathleen ; Coccagna, Giorgio ; Lugaresi, Elio ; Ehrenberg, Bruce L. ; Picchietti, Daniel L. ; Brin, Mitchell F. ; Stenroos, E. Scot ; Verrico, Tracy ; Johnson, William G.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3718-1a76c0960e43c45b13969d4c9ca03204b0c9918b76a0f4eecb57538a156861f03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Anticipation</topic><topic>Anticipation, Genetic</topic><topic>Autosomal dominant</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosome Aberrations - genetics</topic><topic>Chromosome Disorders</topic><topic>Familial restless legs syndrome</topic><topic>Female</topic><topic>Genes, Dominant - genetics</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Humans</topic><topic>Infant</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Models, Genetic</topic><topic>Nervous system (semeiology, syndromes)</topic><topic>Nervous system as a whole</topic><topic>Neurology</topic><topic>Parental transmission</topic><topic>Pedigree</topic><topic>Penetrance</topic><topic>Periodic limb movements in sleep</topic><topic>Restless Legs Syndrome - diagnosis</topic><topic>Restless Legs Syndrome - genetics</topic><topic>Risk</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lazzarini, Alice</creatorcontrib><creatorcontrib>Walters, Arthur S.</creatorcontrib><creatorcontrib>Hickey, Kathleen</creatorcontrib><creatorcontrib>Coccagna, Giorgio</creatorcontrib><creatorcontrib>Lugaresi, Elio</creatorcontrib><creatorcontrib>Ehrenberg, Bruce L.</creatorcontrib><creatorcontrib>Picchietti, Daniel L.</creatorcontrib><creatorcontrib>Brin, Mitchell F.</creatorcontrib><creatorcontrib>Stenroos, E. Scot</creatorcontrib><creatorcontrib>Verrico, Tracy</creatorcontrib><creatorcontrib>Johnson, William G.</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>MEDLINE - Academic</collection><collection>ComDisDome</collection><jtitle>Movement disorders</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lazzarini, Alice</au><au>Walters, Arthur S.</au><au>Hickey, Kathleen</au><au>Coccagna, Giorgio</au><au>Lugaresi, Elio</au><au>Ehrenberg, Bruce L.</au><au>Picchietti, Daniel L.</au><au>Brin, Mitchell F.</au><au>Stenroos, E. Scot</au><au>Verrico, Tracy</au><au>Johnson, William G.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Studies of penetrance and anticipation in five autosomal-dominant restless legs syndrome pedigrees</atitle><jtitle>Movement disorders</jtitle><addtitle>Mov. Disord</addtitle><date>1999-01</date><risdate>1999</risdate><volume>14</volume><issue>1</issue><spage>111</spage><epage>116</epage><pages>111-116</pages><issn>0885-3185</issn><eissn>1531-8257</eissn><abstract>Restless legs syndrome (RLS) can occur with an autosomal‐dominant mode of inheritance. To determine if there are distinguishing features of RLS pedigrees which might clarify molecular mechanisms of pathogenesis, five pedigrees with 81 affected members were analyzed for age of onset, sex ratio, and transmission pattern. One‐factor analysis of variance of ages of onset between generations was carried out, and segregation ratios were calculated for each generation. These kindreds showed an autosomal‐dominant mode of inheritance and a male:female ratio of 1:1.4 (p = 0.15). One of the five analyzed pedigrees shows some evidence of reduced penetrance. In two of the five analyzed pedigrees, there is statistical support for anticipation (p < 0.05). These variations in penetrance and anticipation suggest possible genetic heterogeneity.</abstract><cop>New York</cop><pub>John Wiley & Sons, Inc</pub><pmid>9918352</pmid><doi>10.1002/1531-8257(199901)14:1<111::AID-MDS1018>3.0.CO;2-9</doi><tpages>6</tpages></addata></record> |
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| subjects | Adolescent Adult Aged Anticipation Anticipation, Genetic Autosomal dominant Biological and medical sciences Child Child, Preschool Chromosome Aberrations - genetics Chromosome Disorders Familial restless legs syndrome Female Genes, Dominant - genetics Genetic Predisposition to Disease - genetics Humans Infant Male Medical sciences Middle Aged Models, Genetic Nervous system (semeiology, syndromes) Nervous system as a whole Neurology Parental transmission Pedigree Penetrance Periodic limb movements in sleep Restless Legs Syndrome - diagnosis Restless Legs Syndrome - genetics Risk |
| title | Studies of penetrance and anticipation in five autosomal-dominant restless legs syndrome pedigrees |
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