Studies of penetrance and anticipation in five autosomal‐dominant restless legs syndrome pedigrees
Identifieur interne : 002B90 ( Istex/Corpus ); précédent : 002B89; suivant : 002B91Studies of penetrance and anticipation in five autosomal‐dominant restless legs syndrome pedigrees
Auteurs : Alice Lazzarini ; Arthur S. Walters ; Kathleen Hickey ; Giorgio Coccagna ; Elio Lugaresi ; Bruce L. Ehrenberg ; Daniel L. Picchietti ; Mitchell F. Brin ; E. Scot Stenroos ; Tracy Verrico ; William G. JohnsonSource :
- Movement Disorders [ 0885-3185 ] ; 1999-01.
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- KwdEn :
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.
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DOI: 10.1002/1531-8257(199901)14:1<111::AID-MDS1018>3.0.CO;2-9
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Walters</name><affiliation><mods:affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, New Jersey</mods:affiliation></affiliation><affiliation><mods:affiliation>VA Medical Center, Lyons, New Jersey</mods:affiliation></affiliation></author><author><name sortKey="Hickey, Kathleen" sort="Hickey, Kathleen" uniqKey="Hickey K" first="Kathleen" last="Hickey">Kathleen Hickey</name><affiliation><mods:affiliation>Department of Emergency Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland</mods:affiliation></affiliation></author><author><name sortKey="Coccagna, Giorgio" sort="Coccagna, Giorgio" uniqKey="Coccagna G" first="Giorgio" last="Coccagna">Giorgio Coccagna</name><affiliation><mods:affiliation>Department of Neurology, University of Bologna, Italy</mods:affiliation></affiliation></author><author><name sortKey="Lugaresi, Elio" sort="Lugaresi, Elio" uniqKey="Lugaresi E" first="Elio" last="Lugaresi">Elio Lugaresi</name><affiliation><mods:affiliation>Department of Neurology, University of Bologna, Italy</mods:affiliation></affiliation></author><author><name sortKey="Ehrenberg, Bruce L" sort="Ehrenberg, Bruce L" uniqKey="Ehrenberg B" first="Bruce L." last="Ehrenberg">Bruce L. 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Ehrenberg</name><affiliation><mods:affiliation>Department of Neurology, Tufts New England Medical Center, Boston, Massachusetts</mods:affiliation></affiliation></author><author><name sortKey="Picchietti, Daniel L" sort="Picchietti, Daniel L" uniqKey="Picchietti D" first="Daniel L." last="Picchietti">Daniel L. Picchietti</name><affiliation><mods:affiliation>Carle Sleep Clinic and University of Illinois at Champaign‐Urbana, Illinois</mods:affiliation></affiliation></author><author><name sortKey="Brin, Mitchell F" sort="Brin, Mitchell F" uniqKey="Brin M" first="Mitchell F." last="Brin">Mitchell F. Brin</name><affiliation><mods:affiliation>Department of Neurology, Mt. Sinai School of Medicine, New York, NY, U.S.A</mods:affiliation></affiliation></author><author><name sortKey="Stenroos, E Scot" sort="Stenroos, E Scot" uniqKey="Stenroos E" first="E. Scot" last="Stenroos">E. Scot Stenroos</name><affiliation><mods:affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, New Jersey</mods:affiliation></affiliation></author><author><name sortKey="Verrico, Tracy" sort="Verrico, Tracy" uniqKey="Verrico T" first="Tracy" last="Verrico">Tracy Verrico</name><affiliation><mods:affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, New Jersey</mods:affiliation></affiliation></author><author><name sortKey="Johnson, William G" sort="Johnson, William G" uniqKey="Johnson W" first="William G." last="Johnson">William G. Johnson</name><affiliation><mods:affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, New Jersey</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><date type="published" when="1999-01">1999-01</date><biblScope unit="vol">14</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="111">111</biblScope><biblScope unit="page" to="116">116</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">F460FCB8A8D9A65FF0B6A6F00BB5119ADC3B35AC</idno><idno type="DOI">10.1002/1531-8257(199901)14:1<111::AID-MDS1018>3.0.CO;2-9</idno><idno type="ArticleID">MDS1018</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Anticipation</term><term>Autosomal dominant</term><term>Familial restless legs syndrome</term><term>Parental transmission</term><term>Penetrance</term><term>Periodic limb movements in sleep</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Alice Lazzarini MS, PhD</name><affiliations><json:string>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, New Jersey</json:string></affiliations></json:item><json:item><name>Arthur S. Walters MD</name><affiliations><json:string>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, New Jersey</json:string><json:string>VA Medical Center, Lyons, New Jersey</json:string></affiliations></json:item><json:item><name>Kathleen Hickey MD</name><affiliations><json:string>Department of Emergency Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland</json:string></affiliations></json:item><json:item><name>Giorgio Coccagna MD</name><affiliations><json:string>Department of Neurology, University of Bologna, Italy</json:string></affiliations></json:item><json:item><name>Elio Lugaresi MD</name><affiliations><json:string>Department of Neurology, University of Bologna, Italy</json:string></affiliations></json:item><json:item><name>Bruce L. Ehrenberg MD</name><affiliations><json:string>Department of Neurology, Tufts New England Medical Center, Boston, Massachusetts</json:string></affiliations></json:item><json:item><name>Daniel L. Picchietti MD</name><affiliations><json:string>Carle Sleep Clinic and University of Illinois at Champaign‐Urbana, Illinois</json:string></affiliations></json:item><json:item><name>Mitchell F. Brin MD</name><affiliations><json:string>Department of Neurology, Mt. Sinai School of Medicine, New York, NY, U.S.A</json:string></affiliations></json:item><json:item><name>E. Scot Stenroos BS</name><affiliations><json:string>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, New Jersey</json:string></affiliations></json:item><json:item><name>Tracy Verrico BS</name><affiliations><json:string>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, New Jersey</json:string></affiliations></json:item><json:item><name>William G. Johnson MD</name><affiliations><json:string>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, New Jersey</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Familial restless legs syndrome</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Periodic limb movements in sleep</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Autosomal dominant</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Anticipation</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Penetrance</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Parental transmission</value></json:item></subject><language><json:string>eng</json:string></language><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><qualityIndicators><score>4.605</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 792 pts (letter)</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>838</abstractCharCount><pdfWordCount>3141</pdfWordCount><pdfCharCount>19790</pdfCharCount><pdfPageCount>6</pdfPageCount><abstractWordCount>122</abstractWordCount></qualityIndicators><title>Studies of penetrance and anticipation in five autosomal‐dominant restless legs syndrome pedigrees</title><genre><json:string>Serial article</json:string></genre><host><volume>14</volume><pages><total>6</total><last>116</last><first>111</first></pages><issn><json:string>0885-3185</json:string></issn><issue>1</issue><subject><json:item><value>Article</value></json:item></subject><genre></genre><language><json:string>unknown</json:string></language><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>1999</publicationDate><copyrightDate>1999</copyrightDate><doi><json:string>10.1002/1531-8257(199901)14:1>111::AID-MDS1018>3.0.CO;2-9</json:string></doi><id>F460FCB8A8D9A65FF0B6A6F00BB5119ADC3B35AC</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/F460FCB8A8D9A65FF0B6A6F00BB5119ADC3B35AC/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/F460FCB8A8D9A65FF0B6A6F00BB5119ADC3B35AC/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/F460FCB8A8D9A65FF0B6A6F00BB5119ADC3B35AC/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Studies of penetrance and anticipation in five autosomal‐dominant restless legs syndrome pedigrees</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><availability><p>John Wiley & Sons, Inc.</p></availability><date>1999</date></publicationStmt><notesStmt><note>VA Merit Review Grant - No. PI; No. Co‐I;</note><note>William Dow Lovett Endowment</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Studies of penetrance and anticipation in five autosomal‐dominant restless legs syndrome pedigrees</title><author><persName><forename type="first">Alice</forename><surname>Lazzarini</surname><roleName type="degree">MS, PhD</roleName></persName><note type="correspondence"><p>Correspondence: Department of Neurology, UMDNJ–Robert Wood Johnson Medical School, 97 Paterson St., New Brunswick, NJ 08903, U.S.A</p></note><affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, New Jersey</affiliation></author><author><persName><forename type="first">Arthur S.</forename><surname>Walters</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, New Jersey</affiliation><affiliation>VA Medical Center, Lyons, New Jersey</affiliation></author><author><persName><forename type="first">Kathleen</forename><surname>Hickey</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Emergency Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland</affiliation></author><author><persName><forename type="first">Giorgio</forename><surname>Coccagna</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, University of Bologna, Italy</affiliation></author><author><persName><forename type="first">Elio</forename><surname>Lugaresi</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, University of Bologna, Italy</affiliation></author><author><persName><forename type="first">Bruce L.</forename><surname>Ehrenberg</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Tufts New England Medical Center, Boston, Massachusetts</affiliation></author><author><persName><forename type="first">Daniel L.</forename><surname>Picchietti</surname><roleName type="degree">MD</roleName></persName><affiliation>Carle Sleep Clinic and University of Illinois at Champaign‐Urbana, Illinois</affiliation></author><author><persName><forename type="first">Mitchell F.</forename><surname>Brin</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Mt. Sinai School of Medicine, New York, NY, U.S.A</affiliation></author><author><persName><forename type="first">E. Scot</forename><surname>Stenroos</surname><roleName type="degree">BS</roleName></persName><affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, New Jersey</affiliation></author><author><persName><forename type="first">Tracy</forename><surname>Verrico</surname><roleName type="degree">BS</roleName></persName><affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, New Jersey</affiliation></author><author><persName><forename type="first">William G.</forename><surname>Johnson</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, New Jersey</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><date type="published" when="1999-01"></date><biblScope unit="vol">14</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="111">111</biblScope><biblScope unit="page" to="116">116</biblScope></imprint></monogr><idno type="istex">F460FCB8A8D9A65FF0B6A6F00BB5119ADC3B35AC</idno><idno type="DOI">10.1002/1531-8257(199901)14:1<111::AID-MDS1018>3.0.CO;2-9</idno><idno type="ArticleID">MDS1018</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>1999</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>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.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Familial restless legs syndrome</term></item><item><term>Periodic limb movements in sleep</term></item><item><term>Autosomal dominant</term></item><item><term>Anticipation</term></item><item><term>Penetrance</term></item><item><term>Parental transmission</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="1998-06-16">Received</change><change when="1998-10-01">Registration</change><change when="1999-01">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/F460FCB8A8D9A65FF0B6A6F00BB5119ADC3B35AC/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>John Wiley & Sons, Inc.</publisherName><publisherLoc>New York</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="subtitle">Official Journal of the Movement Disorder Society</title><title type="short">Mov. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="10"><doi origin="wiley" registered="yes">10.1002/1531-8257(199901)14:1<>1.0.CO;2-W</doi><numberingGroup><numbering type="journalVolume" number="14">14</numbering><numbering type="journalIssue">1</numbering></numberingGroup><coverDate startDate="1999-01">January 1999</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="18" status="forIssue"><doi origin="wiley" registered="yes">10.1002/1531-8257(199901)14:1<111::AID-MDS1018>3.0.CO;2-9</doi><idGroup><id type="unit" value="MDS1018"></id></idGroup><countGroup><count type="pageTotal" number="6"></count></countGroup><titleGroup><title type="articleCategory">Article</title><title type="tocHeading1">Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 1999 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="1998-06-16"></event><event type="manuscriptRevised" date="1998-09-30"></event><event type="manuscriptAccepted" date="1998-10-01"></event><event type="firstOnline" date="2001-01-22"></event><event type="publishedOnlineFinalForm" date="2001-01-22"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.2 mode:FullText source:HeaderRef result:HeaderRef" date="2010-03-04"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst">111</numbering><numbering type="pageLast">116</numbering></numberingGroup><correspondenceTo>Department of Neurology, UMDNJ–Robert Wood Johnson Medical School, 97 Paterson St., New Brunswick, NJ 08903, U.S.A</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS1018.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="2"></count><count type="referenceTotal" number="25"></count><count type="wordTotal" number="3035"></count></countGroup><titleGroup><title type="main" xml:lang="en">Studies of penetrance and anticipation in five autosomal‐dominant restless legs syndrome pedigrees</title><title type="short" xml:lang="en">Penetrance and Anticipation in RLS</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Alice</givenNames><familyName>Lazzarini</familyName><degrees>MS, PhD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Arthur S.</givenNames><familyName>Walters</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Kathleen</givenNames><familyName>Hickey</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Giorgio</givenNames><familyName>Coccagna</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Elio</givenNames><familyName>Lugaresi</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Bruce L.</givenNames><familyName>Ehrenberg</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Daniel L.</givenNames><familyName>Picchietti</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af7"><personName><givenNames>Mitchell F.</givenNames><familyName>Brin</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af1"><personName><givenNames>E. Scot</givenNames><familyName>Stenroos</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Tracy</givenNames><familyName>Verrico</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af1"><personName><givenNames>William G.</givenNames><familyName>Johnson</familyName><degrees>MD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, New Jersey</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>VA Medical Center, Lyons, New Jersey</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="US" type="organization"><unparsedAffiliation>Department of Emergency Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="IT" type="organization"><unparsedAffiliation>Department of Neurology, University of Bologna, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Tufts New England Medical Center, Boston, Massachusetts</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="US" type="organization"><unparsedAffiliation>Carle Sleep Clinic and University of Illinois at Champaign‐Urbana, Illinois</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Mt. Sinai School of Medicine, New York, NY, U.S.A</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Familial restless legs syndrome</keyword><keyword xml:id="kwd2">Periodic limb movements in sleep</keyword><keyword xml:id="kwd3">Autosomal dominant</keyword><keyword xml:id="kwd4">Anticipation</keyword><keyword xml:id="kwd5">Penetrance</keyword><keyword xml:id="kwd6">Parental transmission</keyword></keywordGroup><fundingInfo><fundingAgency>VA Merit Review Grant</fundingAgency><fundingNumber>PI</fundingNumber><fundingNumber>Co‐I</fundingNumber></fundingInfo><fundingInfo><fundingAgency>William Dow Lovett Endowment</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>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.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 4-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Studies of penetrance and anticipation in five autosomal‐dominant restless legs syndrome pedigrees</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Penetrance and Anticipation in RLS</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Studies of penetrance and anticipation in five autosomal‐dominant restless legs syndrome pedigrees</title></titleInfo><name type="personal"><namePart type="given">Alice</namePart><namePart type="family">Lazzarini</namePart><namePart type="termsOfAddress">MS, PhD</namePart><affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, New Jersey</affiliation><description>Correspondence: Department of Neurology, UMDNJ–Robert Wood Johnson Medical School, 97 Paterson St., New Brunswick, NJ 08903, U.S.A</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Arthur S.</namePart><namePart type="family">Walters</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, New Jersey</affiliation><affiliation>VA Medical Center, Lyons, New Jersey</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kathleen</namePart><namePart type="family">Hickey</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Emergency Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Giorgio</namePart><namePart type="family">Coccagna</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University of Bologna, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Elio</namePart><namePart type="family">Lugaresi</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University of Bologna, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Bruce L.</namePart><namePart type="family">Ehrenberg</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Tufts New England Medical Center, Boston, Massachusetts</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Daniel L.</namePart><namePart type="family">Picchietti</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Carle Sleep Clinic and University of Illinois at Champaign‐Urbana, Illinois</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Mitchell F.</namePart><namePart type="family">Brin</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Mt. Sinai School of Medicine, New York, NY, U.S.A</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">E. Scot</namePart><namePart type="family">Stenroos</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, New Jersey</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Tracy</namePart><namePart type="family">Verrico</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, New Jersey</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">William G.</namePart><namePart type="family">Johnson</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, New Jersey</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>John Wiley & Sons, Inc.</publisher><place><placeTerm type="text">New York</placeTerm></place><dateIssued encoding="w3cdtf">1999-01</dateIssued><dateCaptured encoding="w3cdtf">1998-06-16</dateCaptured><dateValid encoding="w3cdtf">1998-10-01</dateValid><copyrightDate encoding="w3cdtf">1999</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="tables">2</extent><extent unit="references">25</extent><extent unit="words">3035</extent></physicalDescription><abstract lang="en">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><note type="funding">VA Merit Review Grant - No. PI; No. Co‐I; </note><note type="funding">William Dow Lovett Endowment</note><subject lang="en"><genre>Keywords</genre><topic>Familial restless legs syndrome</topic><topic>Periodic limb movements in sleep</topic><topic>Autosomal dominant</topic><topic>Anticipation</topic><topic>Penetrance</topic><topic>Parental transmission</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. 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