The first identified French family with dentatorubral-pallidoluysian atrophy
Identifieur interne : 002B02 ( PascalFrancis/Checkpoint ); précédent : 002B01; suivant : 002B03The first identified French family with dentatorubral-pallidoluysian atrophy
Auteurs : Alain Destée [France] ; Isabelle Delalande [France] ; Isabelle Vuillaume [France] ; Susanna Schraen-Maschke [France] ; Luc Defebvre [France] ; Bernard Sablonniere [France]Source :
- Movement disorders [ 0885-3185 ] ; 2000.
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Abstract
We report the first French family with dentatorubral-pallidoluysian atrophy (DRPLA) in which three members, a 36-year-old woman (proband), her 34-year-old sister, and 14-year-old brother were affected. There was no family history of DRPLA and their father presented at age 66 with pes cavus but without any other neurologic symptoms. Molecular analysis of the DRPLA gene from blood leukocytes showed CAG repeat sizes to be 68/16 in the proband, 62/15 in her father, and 16/16 in her mother. This study provides support for the variable clinical presentation of this disease with incomplete penetrance in the father and demonstrates that DRPLA can be observed in the French Caucasian population.
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Salengro</s1><s2>Lille</s2><s3>FRA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Lille</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">00-0478887</idno><date when="2000">2000</date><idno type="stanalyst">PASCAL 00-0478887 INIST</idno><idno type="RBID">Pascal:00-0478887</idno><idno type="wicri:Area/PascalFrancis/Corpus">002B71</idno><idno type="wicri:Area/PascalFrancis/Curation">000150</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">002B02</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">The first identified French family with dentatorubral-pallidoluysian atrophy</title><author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destee">Alain Destée</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Service de Neurologie et Pathologie du Mouvement, Clinique Neurologique, Hôpital R. Salengro</s1><s2>Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Lille</settlement></placeName><placeName><settlement type="city">Lille</settlement><region type="region" nuts="2">Nord-Pas-de-Calais</region></placeName><orgName type="university" n="3">Université Lille 2</orgName><orgName type="institution" wicri:auto="newGroup">Université Lille Nord de France</orgName></affiliation></author><author><name sortKey="Delalande, Isabelle" sort="Delalande, Isabelle" uniqKey="Delalande I" first="Isabelle" last="Delalande">Isabelle Delalande</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Service de Neurologie et Pathologie du Mouvement, Clinique Neurologique, Hôpital R. Salengro</s1><s2>Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Vuillaume, Isabelle" sort="Vuillaume, Isabelle" uniqKey="Vuillaume I" first="Isabelle" last="Vuillaume">Isabelle Vuillaume</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. Salengro</s1><s2>Lille</s2><s3>FRA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Schraen Maschke, Susanna" sort="Schraen Maschke, Susanna" uniqKey="Schraen Maschke S" first="Susanna" last="Schraen-Maschke">Susanna Schraen-Maschke</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. Salengro</s1><s2>Lille</s2><s3>FRA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Defebvre, Luc" sort="Defebvre, Luc" uniqKey="Defebvre L" first="Luc" last="Defebvre">Luc Defebvre</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Service de Neurologie et Pathologie du Mouvement, Clinique Neurologique, Hôpital R. Salengro</s1><s2>Lille</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Lille</settlement></placeName><placeName><settlement type="city">Lille</settlement><region type="region" nuts="2">Nord-Pas-de-Calais</region></placeName><orgName type="university" n="3">Université Lille 2</orgName><orgName type="institution" wicri:auto="newGroup">Université Lille Nord de France</orgName></affiliation></author><author><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonniere">Bernard Sablonniere</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. Salengro</s1><s2>Lille</s2><s3>FRA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Lille</settlement></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2000">2000</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Caucasoid</term><term>Dentatorubropallidoluysian atrophy</term><term>Family study</term><term>Female</term><term>French</term><term>Gene penetrance</term><term>Genetic determinism</term><term>Male</term><term>Molecular biology</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Atrophie dentatorubropallidoluysienne</term><term>Français</term><term>Caucasoïde</term><term>Pénétrance génique</term><term>Etude familiale</term><term>Déterminisme génétique</term><term>Biologie moléculaire</term><term>Adulte</term><term>Mâle</term><term>Femelle</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Adulte</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report the first French family with dentatorubral-pallidoluysian atrophy (DRPLA) in which three members, a 36-year-old woman (proband), her 34-year-old sister, and 14-year-old brother were affected. There was no family history of DRPLA and their father presented at age 66 with pes cavus but without any other neurologic symptoms. Molecular analysis of the DRPLA gene from blood leukocytes showed CAG repeat sizes to be 68/16 in the proband, 62/15 in her father, and 16/16 in her mother. This study provides support for the variable clinical presentation of this disease with incomplete penetrance in the father and demonstrates that DRPLA can be observed in the French Caucasian population.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>15</s2></fA05><fA06><s2>5</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>The first identified French family with dentatorubral-pallidoluysian atrophy</s1></fA08><fA11 i1="01" i2="1"><s1>DESTEE (Alain)</s1></fA11><fA11 i1="02" i2="1"><s1>DELALANDE (Isabelle)</s1></fA11><fA11 i1="03" i2="1"><s1>VUILLAUME (Isabelle)</s1></fA11><fA11 i1="04" i2="1"><s1>SCHRAEN-MASCHKE (Susanna)</s1></fA11><fA11 i1="05" i2="1"><s1>DEFEBVRE (Luc)</s1></fA11><fA11 i1="06" i2="1"><s1>SABLONNIERE (Bernard)</s1></fA11><fA14 i1="01"><s1>Service de Neurologie et Pathologie du Mouvement, Clinique Neurologique, Hôpital R. 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There was no family history of DRPLA and their father presented at age 66 with pes cavus but without any other neurologic symptoms. Molecular analysis of the DRPLA gene from blood leukocytes showed CAG repeat sizes to be 68/16 in the proband, 62/15 in her father, and 16/16 in her mother. 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