Studies of penetrance and anticipation in five autosomal‐dominant restless legs syndrome pedigrees
Identifieur interne : 002B90 ( Istex/Curation ); précédent : 002B89; suivant : 002B91Studies of penetrance and anticipation in five autosomal‐dominant restless legs syndrome pedigrees
Auteurs : Alice Lazzarini [États-Unis] ; Arthur S. Walters [États-Unis] ; Kathleen Hickey [États-Unis] ; Giorgio Coccagna [Italie] ; Elio Lugaresi [Italie] ; Bruce L. Ehrenberg [États-Unis] ; Daniel L. Picchietti [États-Unis] ; Mitchell F. Brin [États-Unis] ; E. Scot Stenroos [États-Unis] ; Tracy Verrico [États-Unis] ; William G. Johnson [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 1999-01.
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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 wicri:level="2"><mods:affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, New Jersey</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">New Jersey</region></placeName><wicri:cityArea>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick</wicri:cityArea></affiliation><affiliation wicri:level="2"><mods:affiliation>VA Medical Center, Lyons, New Jersey</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">New Jersey</region></placeName><wicri:cityArea>VA Medical Center, Lyons</wicri:cityArea></affiliation></author><author><name sortKey="Hickey, Kathleen" sort="Hickey, Kathleen" uniqKey="Hickey K" first="Kathleen" last="Hickey">Kathleen Hickey</name><affiliation wicri:level="2"><mods:affiliation>Department of Emergency Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Department of Emergency Medicine, Johns Hopkins University School of Medicine, Baltimore</wicri:cityArea></affiliation></author><author><name sortKey="Coccagna, Giorgio" sort="Coccagna, Giorgio" uniqKey="Coccagna G" first="Giorgio" last="Coccagna">Giorgio Coccagna</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Bologna, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, University of Bologna</wicri:regionArea></affiliation></author><author><name sortKey="Lugaresi, Elio" sort="Lugaresi, Elio" uniqKey="Lugaresi E" first="Elio" last="Lugaresi">Elio Lugaresi</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Bologna, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, University of Bologna</wicri:regionArea></affiliation></author><author><name sortKey="Ehrenberg, Bruce L" sort="Ehrenberg, Bruce L" uniqKey="Ehrenberg B" first="Bruce L." last="Ehrenberg">Bruce L. Ehrenberg</name><affiliation wicri:level="2"><mods:affiliation>Department of Neurology, Tufts New England Medical Center, Boston, Massachusetts</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Department of Neurology, Tufts New England Medical Center, Boston</wicri:cityArea></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 wicri:level="2"><mods:affiliation>Carle Sleep Clinic and University of Illinois at Champaign‐Urbana, Illinois</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Illinois</region></placeName><wicri:cityArea>Carle Sleep Clinic and University of Illinois at Champaign‐Urbana</wicri:cityArea></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 wicri:level="1"><mods:affiliation>Department of Neurology, Mt. Sinai School of Medicine, New York, NY, U.S.A</mods:affiliation><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Department of Neurology, Mt. Sinai School of Medicine, New York, NY</wicri:regionArea></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 wicri:level="2"><mods:affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, New Jersey</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">New Jersey</region></placeName><wicri:cityArea>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick</wicri:cityArea></affiliation></author><author><name sortKey="Verrico, Tracy" sort="Verrico, Tracy" uniqKey="Verrico T" first="Tracy" last="Verrico">Tracy Verrico</name><affiliation wicri:level="2"><mods:affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, New Jersey</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">New Jersey</region></placeName><wicri:cityArea>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick</wicri:cityArea></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 wicri:level="2"><mods:affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick, New Jersey</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">New Jersey</region></placeName><wicri:cityArea>Department of Neurology, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, New Brunswick</wicri:cityArea></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></record>Pour manipuler ce document sous Unix (Dilib)
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