The p.Asp216His TOR1A Allele Effect Is Not Found in the French Population
Identifieur interne : 000C78 ( PascalFrancis/Checkpoint ); précédent : 000C77; suivant : 000C79The p.Asp216His TOR1A Allele Effect Is Not Found in the French Population
Auteurs : Mélissa Yana Frederic [France] ; Fabienne Clot [France] ; Amaud Blanchard [France] ; Claire-Marie Dhaenens [France] ; Gaëtan Lesca [France] ; Laura Cif [France] ; Alexandra Dürr [France] ; Marie Vidailhet [France] ; Bernard Sablonniere [France] ; Alain Calender [France] ; Maria Martinez [France] ; Nicolas Molinari [France] ; Alexis Brice [France] ; Mireille Claustres [France] ; Sylvie Tuffery-Giraud [France] ; Gwenaëlle Collod-Beroud [France]Source :
- Movement disorders [ 0885-3185 ] ; 2009.
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Abstract
DYT1 dystonia are one of the exceptions in human genetics with its unique and recurrent mutation (c.907delGAG). In this rare movement disorder, the mutation is associated with incomplete penetrance as well as great clinical variability, making this disease a benchmark to search for genetic modifiers. Recently, Risch et al. have demonstrated the implication of the rs1801968 SNP in disease penetrance. We attempted to replicate this result in an exhaustive DYT1 French population with no success. Our results argue that the rs1801968 H allele effect is not part of the modifiers in the French population of DYT1 patients and that others have to be identified in our population.
Affiliations:
- France
- Auvergne-Rhône-Alpes, Languedoc-Roussillon, Languedoc-Roussillon-Midi-Pyrénées, Midi-Pyrénées, Nord-Pas-de-Calais, Nord-Pas-de-Calais-Picardie, Rhône-Alpes, Île-de-France
- Université Claude Bernard Lyon1
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Lyon1</orgName></affiliation></author><author><name sortKey="Martinez, Maria" sort="Martinez, Maria" uniqKey="Martinez M" first="Maria" last="Martinez">Maria Martinez</name><affiliation wicri:level="3"><inist:fA14 i1="13"><s1>INSERM, U563</s1><s2>Toulouse, 31024</s2><s3>FRA</s3><sZ>11 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Midi-Pyrénées</region></placeName></affiliation></author><author><name sortKey="Molinari, Nicolas" sort="Molinari, Nicolas" uniqKey="Molinari N" first="Nicolas" last="Molinari">Nicolas Molinari</name><affiliation wicri:level="3"><inist:fA14 i1="14"><s1>CHU Nîmes, Département d'Information Médicale</s1><s2>Nîmes, 30025</s2><s3>FRA</s3><sZ>12 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale</s1><s2>Paris, 75013</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>UPMC Univ Paris 06, UMR_5679</s1><s2>Paris, 75005</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié-Salpêtrière</s1><s2>Paris, 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34000</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation></author><author><name sortKey="Collod Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaëlle" last="Collod-Beroud">Gwenaëlle Collod-Beroud</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM, U827</s1><s2>Montpellier, 34000</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Université MONTPELLIER1, UFR Médecine</s1><s2>Montpellier, 34000</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">09-0223237</idno><date when="2009">2009</date><idno type="stanalyst">PASCAL 09-0223237 INIST</idno><idno type="RBID">Pascal:09-0223237</idno><idno type="wicri:Area/PascalFrancis/Corpus">000E79</idno><idno type="wicri:Area/PascalFrancis/Curation">001E40</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000C78</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">The p.Asp216His TOR1A Allele Effect Is Not Found in the French Population</title><author><name sortKey="Yana Frederic, Melissa" sort="Yana Frederic, Melissa" uniqKey="Yana Frederic M" first="Mélissa" last="Yana Frederic">Mélissa Yana Frederic</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM, U827</s1><s2>Montpellier, 34000</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Université MONTPELLIER1, UFR Médecine</s1><s2>Montpellier, 34000</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation></author><author><name sortKey="Clot, Fabienne" sort="Clot, Fabienne" uniqKey="Clot F" first="Fabienne" last="Clot">Fabienne Clot</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale</s1><s2>Paris, 75013</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>UPMC Univ Paris 06, UMR_5679</s1><s2>Paris, 75005</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié-Salpêtrière</s1><s2>Paris, 75013</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et Cytogénétique</s1><s2>Paris, 75013</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Blanchard, Amaud" sort="Blanchard, Amaud" uniqKey="Blanchard A" first="Amaud" last="Blanchard">Amaud Blanchard</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM, U827</s1><s2>Montpellier, 34000</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Université MONTPELLIER1, UFR Médecine</s1><s2>Montpellier, 34000</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation></author><author><name sortKey="Dhaenens, Claire Marie" sort="Dhaenens, Claire Marie" uniqKey="Dhaenens C" first="Claire-Marie" last="Dhaenens">Claire-Marie Dhaenens</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>CHRU de Lille, UF de Neurobiologie, Centre de Biologie-Pathologie</s1><s2>Lille, 59037</s2><s3>FRA</s3><sZ>4 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Nord-Pas-de-Calais-Picardie</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>INSERM, U837, Institut de Médecine Prédictive et de Recherche Thérapeutique</s1><s2>Lille, 59045</s2><s3>FRA</s3><sZ>4 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Nord-Pas-de-Calais-Picardie</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region></placeName></affiliation></author><author><name sortKey="Lesca, Gaetan" sort="Lesca, Gaetan" uniqKey="Lesca G" first="Gaëtan" last="Lesca">Gaëtan Lesca</name><affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Hôpital Edouard Herriot, Service de Génétique Moléculaire et Clinique</s1><s2>Lyon, 69437</s2><s3>FRA</s3><sZ>5 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region><region type="old region" nuts="2">Rhône-Alpes</region></placeName></affiliation><affiliation wicri:level="4"><inist:fA14 i1="10"><s1>Université Claude Bernard Lyon 1</s1><s2>Villeurbanne, 69622</s2><s3>FRA</s3><sZ>5 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region><region type="old region" nuts="2">Rhône-Alpes</region></placeName><orgName type="university">Université Claude Bernard Lyon1</orgName></affiliation></author><author><name sortKey="Cif, Laura" sort="Cif, Laura" uniqKey="Cif L" first="Laura" last="Cif">Laura Cif</name><affiliation wicri:level="3"><inist:fA14 i1="11"><s1>CHU Montpellier, Hôpital Guy de Chauliac, Service de Neurochirurgie</s1><s2>Montpellier, 34000</s2><s3>FRA</s3><sZ>6 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale</s1><s2>Paris, 75013</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>UPMC Univ Paris 06, UMR_5679</s1><s2>Paris, 75005</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié-Salpêtrière</s1><s2>Paris, 75013</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et Cytogénétique</s1><s2>Paris, 75013</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale</s1><s2>Paris, 75013</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>UPMC Univ Paris 06, UMR_5679</s1><s2>Paris, 75005</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié-Salpêtrière</s1><s2>Paris, 75013</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="12"><s1>AP-HP, Hôpital Pitié-Salpetrière, Fédération des Maladies du Système Nerveux</s1><s2>Paris, 75013</s2><s3>FRA</s3><sZ>8 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonniere">Bernard Sablonniere</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>CHRU de Lille, UF de Neurobiologie, Centre de Biologie-Pathologie</s1><s2>Lille, 59037</s2><s3>FRA</s3><sZ>4 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Nord-Pas-de-Calais-Picardie</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>INSERM, U837, Institut de Médecine Prédictive et de Recherche Thérapeutique</s1><s2>Lille, 59045</s2><s3>FRA</s3><sZ>4 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Nord-Pas-de-Calais-Picardie</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region></placeName></affiliation></author><author><name sortKey="Calender, Alain" sort="Calender, Alain" uniqKey="Calender A" first="Alain" last="Calender">Alain Calender</name><affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Hôpital Edouard Herriot, Service de Génétique Moléculaire et Clinique</s1><s2>Lyon, 69437</s2><s3>FRA</s3><sZ>5 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region><region type="old region" nuts="2">Rhône-Alpes</region></placeName></affiliation><affiliation wicri:level="4"><inist:fA14 i1="10"><s1>Université Claude Bernard Lyon 1</s1><s2>Villeurbanne, 69622</s2><s3>FRA</s3><sZ>5 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region><region type="old region" nuts="2">Rhône-Alpes</region></placeName><orgName type="university">Université Claude Bernard Lyon1</orgName></affiliation></author><author><name sortKey="Martinez, Maria" sort="Martinez, Maria" uniqKey="Martinez M" first="Maria" last="Martinez">Maria Martinez</name><affiliation wicri:level="3"><inist:fA14 i1="13"><s1>INSERM, U563</s1><s2>Toulouse, 31024</s2><s3>FRA</s3><sZ>11 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Midi-Pyrénées</region></placeName></affiliation></author><author><name sortKey="Molinari, Nicolas" sort="Molinari, Nicolas" uniqKey="Molinari N" first="Nicolas" last="Molinari">Nicolas Molinari</name><affiliation wicri:level="3"><inist:fA14 i1="14"><s1>CHU Nîmes, Département d'Information Médicale</s1><s2>Nîmes, 30025</s2><s3>FRA</s3><sZ>12 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale</s1><s2>Paris, 75013</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>UPMC Univ Paris 06, UMR_5679</s1><s2>Paris, 75005</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié-Salpêtrière</s1><s2>Paris, 75013</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et Cytogénétique</s1><s2>Paris, 75013</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="12"><s1>AP-HP, Hôpital Pitié-Salpetrière, Fédération des Maladies du Système Nerveux</s1><s2>Paris, 75013</s2><s3>FRA</s3><sZ>8 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM, U827</s1><s2>Montpellier, 34000</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Université MONTPELLIER1, UFR Médecine</s1><s2>Montpellier, 34000</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="15"><s1>CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire</s1><s2>Montpellier, 34000</s2><s3>FRA</s3><sZ>14 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation></author><author><name sortKey="Tuffery Giraud, Sylvie" sort="Tuffery Giraud, Sylvie" uniqKey="Tuffery Giraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM, U827</s1><s2>Montpellier, 34000</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Université MONTPELLIER1, UFR Médecine</s1><s2>Montpellier, 34000</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation></author><author><name sortKey="Collod Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaëlle" last="Collod-Beroud">Gwenaëlle Collod-Beroud</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM, U827</s1><s2>Montpellier, 34000</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Université MONTPELLIER1, UFR Médecine</s1><s2>Montpellier, 34000</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Languedoc-Roussillon-Midi-Pyrénées</region><region type="old region" nuts="2">Languedoc-Roussillon</region></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="2009">2009</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>Dystonia</term><term>French</term><term>Nervous system diseases</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Pathologie du système nerveux</term><term>Français</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">DYT1 dystonia are one of the exceptions in human genetics with its unique and recurrent mutation (c.907delGAG). In this rare movement disorder, the mutation is associated with incomplete penetrance as well as great clinical variability, making this disease a benchmark to search for genetic modifiers. Recently, Risch et al. have demonstrated the implication of the rs1801968 SNP in disease penetrance. We attempted to replicate this result in an exhaustive DYT1 French population with no success. Our results argue that the rs1801968 H allele effect is not part of the modifiers in the French population of DYT1 patients and that others have to be identified in our 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>24</s2></fA05><fA06><s2>6</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>The p.Asp216His TOR1A Allele Effect Is Not Found in the French Population</s1></fA08><fA11 i1="01" i2="1"><s1>YANA FREDERIC (Mélissa)</s1></fA11><fA11 i1="02" i2="1"><s1>CLOT (Fabienne)</s1></fA11><fA11 i1="03" i2="1"><s1>BLANCHARD (Amaud)</s1></fA11><fA11 i1="04" i2="1"><s1>DHAENENS (Claire-Marie)</s1></fA11><fA11 i1="05" i2="1"><s1>LESCA (Gaëtan)</s1></fA11><fA11 i1="06" i2="1"><s1>CIF (Laura)</s1></fA11><fA11 i1="07" i2="1"><s1>DÜRR (Alexandra)</s1></fA11><fA11 i1="08" i2="1"><s1>VIDAILHET (Marie)</s1></fA11><fA11 i1="09" i2="1"><s1>SABLONNIERE (Bernard)</s1></fA11><fA11 i1="10" i2="1"><s1>CALENDER (Alain)</s1></fA11><fA11 i1="11" i2="1"><s1>MARTINEZ (Maria)</s1></fA11><fA11 i1="12" i2="1"><s1>MOLINARI (Nicolas)</s1></fA11><fA11 i1="13" i2="1"><s1>BRICE (Alexis)</s1></fA11><fA11 i1="14" i2="1"><s1>CLAUSTRES (Mireille)</s1></fA11><fA11 i1="15" i2="1"><s1>TUFFERY-GIRAUD (Sylvie)</s1></fA11><fA11 i1="16" i2="1"><s1>COLLOD-BEROUD (Gwenaëlle)</s1></fA11><fA14 i1="01"><s1>INSERM, U827</s1><s2>Montpellier, 34000</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></fA14><fA14 i1="02"><s1>Université MONTPELLIER1, UFR Médecine</s1><s2>Montpellier, 34000</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></fA14><fA14 i1="03"><s1>INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale</s1><s2>Paris, 75013</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>13 aut.</sZ></fA14><fA14 i1="04"><s1>UPMC Univ Paris 06, UMR_5679</s1><s2>Paris, 75005</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>13 aut.</sZ></fA14><fA14 i1="05"><s1>Institut Fédératif des Neurosciences (IFR70), Hôpital Pitié-Salpêtrière</s1><s2>Paris, 75013</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>13 aut.</sZ></fA14><fA14 i1="06"><s1>AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et Cytogénétique</s1><s2>Paris, 75013</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>7 aut.</sZ><sZ>13 aut.</sZ></fA14><fA14 i1="07"><s1>CHRU de Lille, UF de Neurobiologie, Centre de Biologie-Pathologie</s1><s2>Lille, 59037</s2><s3>FRA</s3><sZ>4 aut.</sZ><sZ>9 aut.</sZ></fA14><fA14 i1="08"><s1>INSERM, U837, Institut de Médecine Prédictive et de Recherche Thérapeutique</s1><s2>Lille, 59045</s2><s3>FRA</s3><sZ>4 aut.</sZ><sZ>9 aut.</sZ></fA14><fA14 i1="09"><s1>Hôpital Edouard Herriot, Service de Génétique Moléculaire et Clinique</s1><s2>Lyon, 69437</s2><s3>FRA</s3><sZ>5 aut.</sZ><sZ>10 aut.</sZ></fA14><fA14 i1="10"><s1>Université Claude Bernard Lyon 1</s1><s2>Villeurbanne, 69622</s2><s3>FRA</s3><sZ>5 aut.</sZ><sZ>10 aut.</sZ></fA14><fA14 i1="11"><s1>CHU Montpellier, Hôpital Guy de Chauliac, Service de Neurochirurgie</s1><s2>Montpellier, 34000</s2><s3>FRA</s3><sZ>6 aut.</sZ></fA14><fA14 i1="12"><s1>AP-HP, Hôpital Pitié-Salpetrière, Fédération des Maladies du Système Nerveux</s1><s2>Paris, 75013</s2><s3>FRA</s3><sZ>8 aut.</sZ><sZ>13 aut.</sZ></fA14><fA14 i1="13"><s1>INSERM, U563</s1><s2>Toulouse, 31024</s2><s3>FRA</s3><sZ>11 aut.</sZ></fA14><fA14 i1="14"><s1>CHU Nîmes, Département d'Information Médicale</s1><s2>Nîmes, 30025</s2><s3>FRA</s3><sZ>12 aut.</sZ></fA14><fA14 i1="15"><s1>CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire</s1><s2>Montpellier, 34000</s2><s3>FRA</s3><sZ>14 aut.</sZ></fA14><fA20><s1>919-921</s1></fA20><fA21><s1>2009</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000186181820180</s5></fA43><fA44><s0>0000</s0><s1>© 2009 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>6 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>09-0223237</s0></fA47><fA60><s1>P</s1><s3>CC</s3></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>DYT1 dystonia are one of the exceptions in human genetics with its unique and recurrent mutation (c.907delGAG). In this rare movement disorder, the mutation is associated with incomplete penetrance as well as great clinical variability, making this disease a benchmark to search for genetic modifiers. Recently, Risch et al. have demonstrated the implication of the rs1801968 SNP in disease penetrance. We attempted to replicate this result in an exhaustive DYT1 French population with no success. Our results argue that the rs1801968 H allele effect is not part of the modifiers in the French population of DYT1 patients and that others have to be identified in our population.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B02B10</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Dystonie</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Dystonia</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Distonía</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Pathologie du système nerveux</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Français</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>French</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Francés</s0><s5>09</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Mouvement involontaire</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Involuntary movement</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Movimiento involuntario</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Pathologie du muscle strié</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Striated muscle disease</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Músculo estriado patología</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Trouble neurologique</s0><s5>41</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Neurological disorder</s0><s5>41</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Trastorno neurológico</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0><s5>42</s5></fC07><fC07 i1="05" i2="X" l="ENG"><s0>Cerebral disorder</s0><s5>42</s5></fC07><fC07 i1="05" i2="X" l="SPA"><s0>Encéfalo patología</s0><s5>42</s5></fC07><fC07 i1="06" i2="X" l="FRE"><s0>Pathologie du système nerveux central</s0><s5>43</s5></fC07><fC07 i1="06" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>43</s5></fC07><fC07 i1="06" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>43</s5></fC07><fN21><s1>166</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist><affiliations><list><country><li>France</li></country><region><li>Auvergne-Rhône-Alpes</li><li>Languedoc-Roussillon</li><li>Languedoc-Roussillon-Midi-Pyrénées</li><li>Midi-Pyrénées</li><li>Nord-Pas-de-Calais</li><li>Nord-Pas-de-Calais-Picardie</li><li>Rhône-Alpes</li><li>Île-de-France</li></region><orgName><li>Université Claude Bernard Lyon1</li></orgName></list><tree><country name="France"><region name="Languedoc-Roussillon-Midi-Pyrénées"><name sortKey="Yana Frederic, Melissa" sort="Yana Frederic, Melissa" uniqKey="Yana Frederic M" first="Mélissa" last="Yana Frederic">Mélissa Yana Frederic</name></region><name sortKey="Blanchard, Amaud" sort="Blanchard, Amaud" uniqKey="Blanchard A" first="Amaud" last="Blanchard">Amaud Blanchard</name><name sortKey="Blanchard, Amaud" sort="Blanchard, Amaud" uniqKey="Blanchard A" first="Amaud" last="Blanchard">Amaud Blanchard</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Calender, Alain" sort="Calender, Alain" uniqKey="Calender A" first="Alain" last="Calender">Alain Calender</name><name sortKey="Calender, Alain" sort="Calender, Alain" uniqKey="Calender A" first="Alain" last="Calender">Alain Calender</name><name sortKey="Cif, Laura" sort="Cif, Laura" uniqKey="Cif L" first="Laura" last="Cif">Laura Cif</name><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name><name sortKey="Clot, Fabienne" sort="Clot, Fabienne" uniqKey="Clot F" first="Fabienne" last="Clot">Fabienne Clot</name><name sortKey="Clot, Fabienne" sort="Clot, Fabienne" uniqKey="Clot F" first="Fabienne" last="Clot">Fabienne Clot</name><name sortKey="Clot, Fabienne" sort="Clot, Fabienne" uniqKey="Clot F" first="Fabienne" last="Clot">Fabienne Clot</name><name sortKey="Clot, Fabienne" sort="Clot, Fabienne" uniqKey="Clot F" first="Fabienne" last="Clot">Fabienne Clot</name><name sortKey="Collod Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaëlle" last="Collod-Beroud">Gwenaëlle Collod-Beroud</name><name sortKey="Collod Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaëlle" last="Collod-Beroud">Gwenaëlle Collod-Beroud</name><name sortKey="Dhaenens, Claire Marie" sort="Dhaenens, Claire Marie" uniqKey="Dhaenens C" first="Claire-Marie" last="Dhaenens">Claire-Marie Dhaenens</name><name sortKey="Dhaenens, Claire Marie" sort="Dhaenens, Claire Marie" uniqKey="Dhaenens C" first="Claire-Marie" last="Dhaenens">Claire-Marie Dhaenens</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Lesca, Gaetan" sort="Lesca, Gaetan" uniqKey="Lesca G" first="Gaëtan" last="Lesca">Gaëtan Lesca</name><name sortKey="Lesca, Gaetan" sort="Lesca, Gaetan" uniqKey="Lesca G" first="Gaëtan" last="Lesca">Gaëtan Lesca</name><name sortKey="Martinez, Maria" sort="Martinez, Maria" uniqKey="Martinez M" first="Maria" last="Martinez">Maria Martinez</name><name sortKey="Molinari, Nicolas" sort="Molinari, Nicolas" uniqKey="Molinari N" first="Nicolas" last="Molinari">Nicolas Molinari</name><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonniere">Bernard Sablonniere</name><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonniere">Bernard Sablonniere</name><name sortKey="Tuffery Giraud, Sylvie" sort="Tuffery Giraud, Sylvie" uniqKey="Tuffery Giraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name><name sortKey="Tuffery Giraud, Sylvie" sort="Tuffery Giraud, Sylvie" uniqKey="Tuffery Giraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name><name sortKey="Yana Frederic, Melissa" sort="Yana Frederic, Melissa" uniqKey="Yana Frederic M" first="Mélissa" last="Yana Frederic">Mélissa Yana Frederic</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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