Prevalence of THAPI Sequence Variants in German Patients with Primary Dystonia
Identifieur interne : 001F22 ( Main/Exploration ); précédent : 001F21; suivant : 001F23Prevalence of THAPI Sequence Variants in German Patients with Primary Dystonia
Auteurs : Anne S. Söhn [Allemagne] ; Nicola Glöckle [Allemagne] ; Andrea Duarte Doetzer [Allemagne] ; Günther Deuschl [Allemagne] ; Ute Felbor [Allemagne] ; Helge R. Topka [Allemagne] ; Ludger Schöls [Allemagne] ; Olaf Riess [Allemagne] ; Peter Bauer [Allemagne] ; Ulrich Müller [Allemagne] ; Kathrin Grundmann [Allemagne]Source :
- Movement disorders [ 0885-3185 ] ; 2010.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
Abstract
Primary dystonias are a clinically and genetically heterogeneous group of movement disorders, but only for two of them, i.e., dystonia 1 and dystonia 6, the disease causing gene has been identified. Dystonia 1 is characterized by an early onset and is caused by a mutation in the TORIA gene. Only recently, mutations in THAP1 have been shown to be the cause of DYT6 dystonia. We analyzed 610 patients with various forms of dystonia for sequence variants in the THAP1 gene by means of high resolution melting to delineate the prevalence of sequence variants and phenotypic variability. We identified seven sequence variants in patients and one sequence variant in a control. The sequence variants were not detected in 537 healthy controls. Four patients present with generalized dystonia with speech involvement of early onset, another three patients suffered exclusively from cervical dystonia of adult onset. These findings suggest that THAP1 sequence variations seem to be associated with different ages of onset and distribution of symptoms. Consequently, the phenotypic spectrum might be broader than previously assumed.
Affiliations:
- Allemagne
- Bade-Wurtemberg, Bavière, District de Haute-Bavière, District de Tübingen, Schleswig-Holstein
- Kiel, Munich, Tübingen
- Université Louis-et-Maximilien de Munich
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Söhn</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen</s1><s2>Tübingen</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Glockle, Nicola" sort="Glockle, Nicola" uniqKey="Glockle N" first="Nicola" last="Glöckle">Nicola Glöckle</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen</s1><s2>Tübingen</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Duarte Doetzer, Andrea" sort="Duarte Doetzer, Andrea" uniqKey="Duarte Doetzer A" first="Andrea" last="Duarte Doetzer">Andrea Duarte Doetzer</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen</s1><s2>Tübingen</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Deuschl, Gunther" sort="Deuschl, Gunther" uniqKey="Deuschl G" first="Günther" last="Deuschl">Günther Deuschl</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Neurology, University of Kiel</s1><s2>Kiel</s2><s3>DEU</s3><sZ>4 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Felbor, Ute" sort="Felbor, Ute" uniqKey="Felbor U" first="Ute" last="Felbor">Ute Felbor</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Institute of Human Genetics, University of Greifswald</s1><s2>Greifswald</s2><s3>DEU</s3><sZ>5 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Greifswald</wicri:noRegion><wicri:noRegion>University of Greifswald</wicri:noRegion><wicri:noRegion>Greifswald</wicri:noRegion></affiliation></author><author><name sortKey="Topka, Helge R" sort="Topka, Helge R" uniqKey="Topka H" first="Helge R." last="Topka">Helge R. Topka</name><affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Department of Neurology and Clinical Neurophysiology, Academic Hospital Bogenhausen, Technical University of Munich</s1><s2>Munich</s2><s3>DEU</s3><sZ>6 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName><orgName type="university">Université Louis-et-Maximilien de Munich</orgName></affiliation></author><author><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurodegenerative Diseases, Hertie -Institute for Clinical Brain Research, University of Tuebingen</s1><s3>DEU</s3><sZ>7 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Tuebingen</wicri:noRegion><wicri:noRegion>Department of Neurodegenerative Diseases, Hertie -Institute for Clinical Brain Research, University of Tuebingen</wicri:noRegion></affiliation></author><author><name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen</s1><s2>Tübingen</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen</s1><s2>Tübingen</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Institute of Human Genetics, Justus-Liebig-University</s1><s2>Giessen</s2><s3>DEU</s3><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Giessen</wicri:noRegion><wicri:noRegion>Justus-Liebig-University</wicri:noRegion><wicri:noRegion>Giessen</wicri:noRegion></affiliation></author><author><name sortKey="Grundmann, Kathrin" sort="Grundmann, Kathrin" uniqKey="Grundmann K" first="Kathrin" last="Grundmann">Kathrin Grundmann</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen</s1><s2>Tübingen</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">10-0446357</idno><date when="2010">2010</date><idno type="stanalyst">PASCAL 10-0446357 INIST</idno><idno type="RBID">Pascal:10-0446357</idno><idno type="wicri:Area/PascalFrancis/Corpus">000901</idno><idno type="wicri:Area/PascalFrancis/Curation">002418</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000889</idno><idno type="wicri:doubleKey">0885-3185:2010:Sohn A:prevalence:of:thapi</idno><idno type="wicri:Area/Main/Merge">002476</idno><idno type="wicri:Area/Main/Curation">001F22</idno><idno type="wicri:Area/Main/Exploration">001F22</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Prevalence of THAPI Sequence Variants in German Patients with Primary Dystonia</title><author><name sortKey="Sohn, Anne S" sort="Sohn, Anne S" uniqKey="Sohn A" first="Anne S." last="Söhn">Anne S. Söhn</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen</s1><s2>Tübingen</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Glockle, Nicola" sort="Glockle, Nicola" uniqKey="Glockle N" first="Nicola" last="Glöckle">Nicola Glöckle</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen</s1><s2>Tübingen</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Duarte Doetzer, Andrea" sort="Duarte Doetzer, Andrea" uniqKey="Duarte Doetzer A" first="Andrea" last="Duarte Doetzer">Andrea Duarte Doetzer</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen</s1><s2>Tübingen</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Deuschl, Gunther" sort="Deuschl, Gunther" uniqKey="Deuschl G" first="Günther" last="Deuschl">Günther Deuschl</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Neurology, University of Kiel</s1><s2>Kiel</s2><s3>DEU</s3><sZ>4 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Felbor, Ute" sort="Felbor, Ute" uniqKey="Felbor U" first="Ute" last="Felbor">Ute Felbor</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Institute of Human Genetics, University of Greifswald</s1><s2>Greifswald</s2><s3>DEU</s3><sZ>5 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Greifswald</wicri:noRegion><wicri:noRegion>University of Greifswald</wicri:noRegion><wicri:noRegion>Greifswald</wicri:noRegion></affiliation></author><author><name sortKey="Topka, Helge R" sort="Topka, Helge R" uniqKey="Topka H" first="Helge R." last="Topka">Helge R. Topka</name><affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Department of Neurology and Clinical Neurophysiology, Academic Hospital Bogenhausen, Technical University of Munich</s1><s2>Munich</s2><s3>DEU</s3><sZ>6 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName><orgName type="university">Université Louis-et-Maximilien de Munich</orgName></affiliation></author><author><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurodegenerative Diseases, Hertie -Institute for Clinical Brain Research, University of Tuebingen</s1><s3>DEU</s3><sZ>7 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Tuebingen</wicri:noRegion><wicri:noRegion>Department of Neurodegenerative Diseases, Hertie -Institute for Clinical Brain Research, University of Tuebingen</wicri:noRegion></affiliation></author><author><name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen</s1><s2>Tübingen</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen</s1><s2>Tübingen</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Institute of Human Genetics, Justus-Liebig-University</s1><s2>Giessen</s2><s3>DEU</s3><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Giessen</wicri:noRegion><wicri:noRegion>Justus-Liebig-University</wicri:noRegion><wicri:noRegion>Giessen</wicri:noRegion></affiliation></author><author><name sortKey="Grundmann, Kathrin" sort="Grundmann, Kathrin" uniqKey="Grundmann K" first="Kathrin" last="Grundmann">Kathrin Grundmann</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen</s1><s2>Tübingen</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</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="2010">2010</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>German</term><term>High resolution</term><term>Human</term><term>Melting</term><term>Nervous system diseases</term><term>Prevalence</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Pathologie du système nerveux</term><term>Prévalence</term><term>Allemand</term><term>Homme</term><term>Haute résolution</term><term>Fusion</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Primary dystonias are a clinically and genetically heterogeneous group of movement disorders, but only for two of them, i.e., dystonia 1 and dystonia 6, the disease causing gene has been identified. Dystonia 1 is characterized by an early onset and is caused by a mutation in the TORIA gene. Only recently, mutations in THAP1 have been shown to be the cause of DYT6 dystonia. We analyzed 610 patients with various forms of dystonia for sequence variants in the THAP1 gene by means of high resolution melting to delineate the prevalence of sequence variants and phenotypic variability. We identified seven sequence variants in patients and one sequence variant in a control. The sequence variants were not detected in 537 healthy controls. Four patients present with generalized dystonia with speech involvement of early onset, another three patients suffered exclusively from cervical dystonia of adult onset. These findings suggest that THAP1 sequence variations seem to be associated with different ages of onset and distribution of symptoms. Consequently, the phenotypic spectrum might be broader than previously assumed.</div></front></TEI><affiliations><list><country><li>Allemagne</li></country><region><li>Bade-Wurtemberg</li><li>Bavière</li><li>District de Haute-Bavière</li><li>District de Tübingen</li><li>Schleswig-Holstein</li></region><settlement><li>Kiel</li><li>Munich</li><li>Tübingen</li></settlement><orgName><li>Université Louis-et-Maximilien de Munich</li></orgName></list><tree><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Sohn, Anne S" sort="Sohn, Anne S" uniqKey="Sohn A" first="Anne S." last="Söhn">Anne S. Söhn</name></region><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name><name sortKey="Deuschl, Gunther" sort="Deuschl, Gunther" uniqKey="Deuschl G" first="Günther" last="Deuschl">Günther Deuschl</name><name sortKey="Duarte Doetzer, Andrea" sort="Duarte Doetzer, Andrea" uniqKey="Duarte Doetzer A" first="Andrea" last="Duarte Doetzer">Andrea Duarte Doetzer</name><name sortKey="Felbor, Ute" sort="Felbor, Ute" uniqKey="Felbor U" first="Ute" last="Felbor">Ute Felbor</name><name sortKey="Glockle, Nicola" sort="Glockle, Nicola" uniqKey="Glockle N" first="Nicola" last="Glöckle">Nicola Glöckle</name><name sortKey="Grundmann, Kathrin" sort="Grundmann, Kathrin" uniqKey="Grundmann K" first="Kathrin" last="Grundmann">Kathrin Grundmann</name><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name><name sortKey="Riess, Olaf" sort="Riess, Olaf" uniqKey="Riess O" first="Olaf" last="Riess">Olaf Riess</name><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name><name sortKey="Topka, Helge R" sort="Topka, Helge R" uniqKey="Topka H" first="Helge R." last="Topka">Helge R. Topka</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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