THAP1 Mutations And Dystonia Phenotypes: Genotype Phenotype Correlations
Identifieur interne : 000F66 ( Main/Curation ); précédent : 000F65; suivant : 000F67THAP1 Mutations And Dystonia Phenotypes: Genotype Phenotype Correlations
Auteurs : Georgia Xiromerisiou [Royaume-Uni, Grèce] ; Henry Houlden [Royaume-Uni] ; Nikolaos Scarmeas [États-Unis, Grèce] ; Maria Stamelou [Royaume-Uni] ; Eleanna Kara [Royaume-Uni] ; John Hardy [Royaume-Uni] ; Andrew Lees (neurologue) [Royaume-Uni] ; Prasad Korlipara [Royaume-Uni] ; Patricia Limousin [Royaume-Uni] ; Reema Paudel [Royaume-Uni] ; Georgios M. Hadjigeorgiou [Grèce] ; Kailash P. Bhatia [Royaume-Uni]Source :
- Movement disorders [ 0885-3185 ] ; 2012.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adolescent, Adult, Apoptosis Regulatory Proteins (genetics), DNA-Binding Proteins (genetics), Databases, Factual (statistics & numerical data), Diagnosis, Computer-Assisted, Dystonia, Dystonia (genetics), Dystonia (mortality), Dystonia (physiopathology), Female, Genetic Predisposition to Disease (genetics), Genotype, Humans, Male, Middle Aged, Mutation, Mutation (genetics), Nervous system diseases, Nuclear Proteins (genetics), Phenotype, Predictive Value of Tests, Survival Analysis, Young Adult.
- MESH :
- chemical , genetics : Apoptosis Regulatory Proteins, DNA-Binding Proteins, Nuclear Proteins.
- genetics : Dystonia, Genetic Predisposition to Disease, Mutation.
- mortality : Dystonia.
- physiopathology : Dystonia.
- statistics & numerical data : Databases, Factual.
- Adolescent, Adult, Diagnosis, Computer-Assisted, Female, Genotype, Humans, Male, Middle Aged, Phenotype, Predictive Value of Tests, Survival Analysis, Young Adult.
Abstract
THAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been difficult to identify clear genotype phenotype patterns. Here, we screened the THAP1 gene in a further series of dystonia cases and evaluated the mutation pathogenicity in this series as well as previously reported mutations to investigate possible phenotype-genotype correlations. THAP1 mutations have been identified throughout the coding region of the gene, with the greatest concentration of variants localized to the THAP1 domain. In the additional cases analyzed here, a further two mutations were found. No obvious, indisputable genotype-phenotype correlation emerged from these data. However, we managed to find a correlation between the pathogenicity of mutations, distribution, and age of onset of dystonia. THAP1 mutations are an important cause of dystonia, but, as yet, no clear genotype-phenotype correlations have been identified. Greater mutation numbers in different populations will be important and mutation-specific functional studies will be essential to identify the pathogenicity of the various THAP1 mutations.
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">THAP1 Mutations And Dystonia Phenotypes: Genotype Phenotype Correlations</title>
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<author><name sortKey="Limousin, Patricia" sort="Limousin, Patricia" uniqKey="Limousin P" first="Patricia" last="Limousin">Patricia Limousin</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Unit of Functional Neurosurgery, Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, University College London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Paudel, Reema" sort="Paudel, Reema" uniqKey="Paudel R" first="Reema" last="Paudel">Reema Paudel</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1>
<s2>London, London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M." last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Faculty of Medicine University of Thessaly</s1>
<s2>Larissa</s2>
<s3>GRC</s3>
<sZ>1 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Grèce</country>
<wicri:noRegion>Larissa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</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="2012">2012</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>Adolescent</term>
<term>Adult</term>
<term>Apoptosis Regulatory Proteins (genetics)</term>
<term>DNA-Binding Proteins (genetics)</term>
<term>Databases, Factual (statistics & numerical data)</term>
<term>Diagnosis, Computer-Assisted</term>
<term>Dystonia</term>
<term>Dystonia (genetics)</term>
<term>Dystonia (mortality)</term>
<term>Dystonia (physiopathology)</term>
<term>Female</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Mutation (genetics)</term>
<term>Nervous system diseases</term>
<term>Nuclear Proteins (genetics)</term>
<term>Phenotype</term>
<term>Predictive Value of Tests</term>
<term>Survival Analysis</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Apoptosis Regulatory Proteins</term>
<term>DNA-Binding Proteins</term>
<term>Nuclear Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term>
<term>Genetic Predisposition to Disease</term>
<term>Mutation</term>
</keywords>
<keywords scheme="MESH" qualifier="mortality" xml:lang="en"><term>Dystonia</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Dystonia</term>
</keywords>
<keywords scheme="MESH" qualifier="statistics & numerical data" xml:lang="en"><term>Databases, Factual</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Diagnosis, Computer-Assisted</term>
<term>Female</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Phenotype</term>
<term>Predictive Value of Tests</term>
<term>Survival Analysis</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term>
<term>Pathologie du système nerveux</term>
<term>Mutation</term>
<term>Phénotype</term>
<term>Génotype</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">THAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been difficult to identify clear genotype phenotype patterns. Here, we screened the THAP1 gene in a further series of dystonia cases and evaluated the mutation pathogenicity in this series as well as previously reported mutations to investigate possible phenotype-genotype correlations. THAP1 mutations have been identified throughout the coding region of the gene, with the greatest concentration of variants localized to the THAP1 domain. In the additional cases analyzed here, a further two mutations were found. No obvious, indisputable genotype-phenotype correlation emerged from these data. However, we managed to find a correlation between the pathogenicity of mutations, distribution, and age of onset of dystonia. THAP1 mutations are an important cause of dystonia, but, as yet, no clear genotype-phenotype correlations have been identified. Greater mutation numbers in different populations will be important and mutation-specific functional studies will be essential to identify the pathogenicity of the various THAP1 mutations.</div>
</front>
</TEI>
<double idat="0885-3185:2012:Xiromerisiou G:thap:mutations:and"><INIST><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">THAP1 Mutations And Dystonia Phenotypes: Genotype Phenotype Correlations</title>
<author><name sortKey="Xiromerisiou, Georgia" sort="Xiromerisiou, Georgia" uniqKey="Xiromerisiou G" first="Georgia" last="Xiromerisiou">Georgia Xiromerisiou</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1>
<s2>London, London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Faculty of Medicine University of Thessaly</s1>
<s2>Larissa</s2>
<s3>GRC</s3>
<sZ>1 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Grèce</country>
<wicri:noRegion>Larissa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1>
<s2>London, London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Scarmeas, Nikolaos" sort="Scarmeas, Nikolaos" uniqKey="Scarmeas N" first="Nikolaos" last="Scarmeas">Nikolaos Scarmeas</name>
<affiliation wicri:level="4"><inist:fA14 i1="05"><s1>Taub Institute, Sergievsky Center, Department of Neurology, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">État de New York</region>
<settlement type="city">New York</settlement>
</placeName>
<orgName type="university">Université Columbia</orgName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, Medical School of National and Kapodistrian University of Athens</s1>
<s2>Athens</s2>
<s3>GRC</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Grèce</country>
<wicri:noRegion>Athens</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Stamelou, Maria" sort="Stamelou, Maria" uniqKey="Stamelou M" first="Maria" last="Stamelou">Maria Stamelou</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kara, Eleanna" sort="Kara, Eleanna" uniqKey="Kara E" first="Eleanna" last="Kara">Eleanna Kara</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1>
<s2>London, London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1>
<s2>London, London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1>
<s2>London, London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName>National Hospital for Neurology and Neurosurgery</orgName>
</affiliation>
</author>
<author><name sortKey="Korlipara, Prasad" sort="Korlipara, Prasad" uniqKey="Korlipara P" first="Prasad" last="Korlipara">Prasad Korlipara</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Limousin, Patricia" sort="Limousin, Patricia" uniqKey="Limousin P" first="Patricia" last="Limousin">Patricia Limousin</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Unit of Functional Neurosurgery, Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, University College London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Paudel, Reema" sort="Paudel, Reema" uniqKey="Paudel R" first="Reema" last="Paudel">Reema Paudel</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1>
<s2>London, London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M." last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Faculty of Medicine University of Thessaly</s1>
<s2>Larissa</s2>
<s3>GRC</s3>
<sZ>1 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Grèce</country>
<wicri:noRegion>Larissa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">12-0369633</idno>
<date when="2012">2012</date>
<idno type="stanalyst">PASCAL 12-0369633 INIST</idno>
<idno type="RBID">Pascal:12-0369633</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000093</idno>
<idno type="wicri:Area/PascalFrancis/Curation">002C21</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">000038</idno>
<idno type="wicri:doubleKey">0885-3185:2012:Xiromerisiou G:thap:mutations:and</idno>
<idno type="wicri:Area/Main/Merge">001017</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">THAP1 Mutations And Dystonia Phenotypes: Genotype Phenotype Correlations</title>
<author><name sortKey="Xiromerisiou, Georgia" sort="Xiromerisiou, Georgia" uniqKey="Xiromerisiou G" first="Georgia" last="Xiromerisiou">Georgia Xiromerisiou</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1>
<s2>London, London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Faculty of Medicine University of Thessaly</s1>
<s2>Larissa</s2>
<s3>GRC</s3>
<sZ>1 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Grèce</country>
<wicri:noRegion>Larissa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1>
<s2>London, London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Scarmeas, Nikolaos" sort="Scarmeas, Nikolaos" uniqKey="Scarmeas N" first="Nikolaos" last="Scarmeas">Nikolaos Scarmeas</name>
<affiliation wicri:level="4"><inist:fA14 i1="05"><s1>Taub Institute, Sergievsky Center, Department of Neurology, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">État de New York</region>
<settlement type="city">New York</settlement>
</placeName>
<orgName type="university">Université Columbia</orgName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, Medical School of National and Kapodistrian University of Athens</s1>
<s2>Athens</s2>
<s3>GRC</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Grèce</country>
<wicri:noRegion>Athens</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Stamelou, Maria" sort="Stamelou, Maria" uniqKey="Stamelou M" first="Maria" last="Stamelou">Maria Stamelou</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kara, Eleanna" sort="Kara, Eleanna" uniqKey="Kara E" first="Eleanna" last="Kara">Eleanna Kara</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1>
<s2>London, London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1>
<s2>London, London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
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<author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1>
<s2>London, London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName>National Hospital for Neurology and Neurosurgery</orgName>
</affiliation>
</author>
<author><name sortKey="Korlipara, Prasad" sort="Korlipara, Prasad" uniqKey="Korlipara P" first="Prasad" last="Korlipara">Prasad Korlipara</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Limousin, Patricia" sort="Limousin, Patricia" uniqKey="Limousin P" first="Patricia" last="Limousin">Patricia Limousin</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Unit of Functional Neurosurgery, Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, University College London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Paudel, Reema" sort="Paudel, Reema" uniqKey="Paudel R" first="Reema" last="Paudel">Reema Paudel</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1>
<s2>London, London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M." last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Faculty of Medicine University of Thessaly</s1>
<s2>Larissa</s2>
<s3>GRC</s3>
<sZ>1 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Grèce</country>
<wicri:noRegion>Larissa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</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="2012">2012</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>Genotype</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term>
<term>Pathologie du système nerveux</term>
<term>Mutation</term>
<term>Phénotype</term>
<term>Génotype</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">THAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been difficult to identify clear genotype phenotype patterns. Here, we screened the THAP1 gene in a further series of dystonia cases and evaluated the mutation pathogenicity in this series as well as previously reported mutations to investigate possible phenotype-genotype correlations. THAP1 mutations have been identified throughout the coding region of the gene, with the greatest concentration of variants localized to the THAP1 domain. In the additional cases analyzed here, a further two mutations were found. No obvious, indisputable genotype-phenotype correlation emerged from these data. However, we managed to find a correlation between the pathogenicity of mutations, distribution, and age of onset of dystonia. THAP1 mutations are an important cause of dystonia, but, as yet, no clear genotype-phenotype correlations have been identified. Greater mutation numbers in different populations will be important and mutation-specific functional studies will be essential to identify the pathogenicity of the various THAP1 mutations.</div>
</front>
</TEI>
</INIST>
<PMC><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">THAP1 Mutations and Dystonia Phenotypes: Genotype Phenotype Correlations</title>
<author><name sortKey="Xiromerisiou, Georgia" sort="Xiromerisiou, Georgia" uniqKey="Xiromerisiou G" first="Georgia" last="Xiromerisiou">Georgia Xiromerisiou</name>
<affiliation wicri:level="3"><nlm:aff id="au1"><institution>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</institution>
<addr-line>London, London, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="au4"><institution>Department of Neurology, Faculty of Medicine University of Thessaly</institution>
<addr-line>Larissa, Greece</addr-line>
</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>Larissa</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name>
<affiliation wicri:level="3"><nlm:aff id="au1"><institution>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</institution>
<addr-line>London, London, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Scarmeas, Nikolaos" sort="Scarmeas, Nikolaos" uniqKey="Scarmeas N" first="Nikolaos" last="Scarmeas">Nikolaos Scarmeas</name>
<affiliation wicri:level="2"><nlm:aff id="au5"><institution>Taub Institute, Sergievsky Center, Department of Neurology, Columbia University</institution>
<addr-line>New York, New York, USA</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="au6"><institution>Department of Neurology, Medical School of National and Kapodistrian University of Athens</institution>
<addr-line>Athens, Greece</addr-line>
</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>Athens</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Stamelou, Maria" sort="Stamelou, Maria" uniqKey="Stamelou M" first="Maria" last="Stamelou">Maria Stamelou</name>
<affiliation wicri:level="1"><nlm:aff id="au2"><institution>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</institution>
<addr-line>London, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>London</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kara, Eleanna" sort="Kara, Eleanna" uniqKey="Kara E" first="Eleanna" last="Kara">Eleanna Kara</name>
<affiliation wicri:level="3"><nlm:aff id="au1"><institution>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</institution>
<addr-line>London, London, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<affiliation wicri:level="3"><nlm:aff id="au1"><institution>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</institution>
<addr-line>London, London, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew Lees (neurologue)</name>
<affiliation wicri:level="3"><nlm:aff id="au1"><institution>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</institution>
<addr-line>London, London, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName>National Hospital for Neurology and Neurosurgery</orgName>
</affiliation>
</author>
<author><name sortKey="Korlipara, Prasad" sort="Korlipara, Prasad" uniqKey="Korlipara P" first="Prasad" last="Korlipara">Prasad Korlipara</name>
<affiliation wicri:level="1"><nlm:aff id="au2"><institution>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</institution>
<addr-line>London, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>London</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Limousin, Patricia" sort="Limousin, Patricia" uniqKey="Limousin P" first="Patricia" last="Limousin">Patricia Limousin</name>
<affiliation wicri:level="1"><nlm:aff id="au3"><institution>Unit of Functional Neurosurgery, Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, University College London</institution>
<addr-line>London, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>London</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Paudel, Reema" sort="Paudel, Reema" uniqKey="Paudel R" first="Reema" last="Paudel">Reema Paudel</name>
<affiliation wicri:level="3"><nlm:aff id="au1"><institution>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</institution>
<addr-line>London, London, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M" last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name>
<affiliation wicri:level="1"><nlm:aff id="au4"><institution>Department of Neurology, Faculty of Medicine University of Thessaly</institution>
<addr-line>Larissa, Greece</addr-line>
</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>Larissa</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name>
<affiliation wicri:level="1"><nlm:aff id="au2"><institution>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</institution>
<addr-line>London, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>London</wicri:regionArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">22903657</idno>
<idno type="pmc">3664430</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3664430</idno>
<idno type="RBID">PMC:3664430</idno>
<idno type="doi">10.1002/mds.25146</idno>
<date when="2012">2012</date>
<idno type="wicri:Area/Pmc/Corpus">000459</idno>
<idno type="wicri:Area/Pmc/Curation">000459</idno>
<idno type="wicri:Area/Pmc/Checkpoint">000156</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="wicri:Area/PubMed/Corpus">000C76</idno>
<idno type="wicri:Area/PubMed/Curation">000C76</idno>
<idno type="wicri:Area/PubMed/Checkpoint">000C07</idno>
<idno type="wicri:Area/Ncbi/Merge">003770</idno>
<idno type="wicri:Area/Ncbi/Curation">003770</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">003770</idno>
<idno type="wicri:doubleKey">0885-3185:2012:Xiromerisiou G:thap:mutations:and</idno>
<idno type="wicri:Area/Main/Merge">000C00</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">THAP1 Mutations and Dystonia Phenotypes: Genotype Phenotype Correlations</title>
<author><name sortKey="Xiromerisiou, Georgia" sort="Xiromerisiou, Georgia" uniqKey="Xiromerisiou G" first="Georgia" last="Xiromerisiou">Georgia Xiromerisiou</name>
<affiliation wicri:level="3"><nlm:aff id="au1"><institution>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</institution>
<addr-line>London, London, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="au4"><institution>Department of Neurology, Faculty of Medicine University of Thessaly</institution>
<addr-line>Larissa, Greece</addr-line>
</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>Larissa</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name>
<affiliation wicri:level="3"><nlm:aff id="au1"><institution>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</institution>
<addr-line>London, London, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Scarmeas, Nikolaos" sort="Scarmeas, Nikolaos" uniqKey="Scarmeas N" first="Nikolaos" last="Scarmeas">Nikolaos Scarmeas</name>
<affiliation wicri:level="2"><nlm:aff id="au5"><institution>Taub Institute, Sergievsky Center, Department of Neurology, Columbia University</institution>
<addr-line>New York, New York, USA</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="au6"><institution>Department of Neurology, Medical School of National and Kapodistrian University of Athens</institution>
<addr-line>Athens, Greece</addr-line>
</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>Athens</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Stamelou, Maria" sort="Stamelou, Maria" uniqKey="Stamelou M" first="Maria" last="Stamelou">Maria Stamelou</name>
<affiliation wicri:level="1"><nlm:aff id="au2"><institution>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</institution>
<addr-line>London, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>London</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kara, Eleanna" sort="Kara, Eleanna" uniqKey="Kara E" first="Eleanna" last="Kara">Eleanna Kara</name>
<affiliation wicri:level="3"><nlm:aff id="au1"><institution>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</institution>
<addr-line>London, London, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<affiliation wicri:level="3"><nlm:aff id="au1"><institution>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</institution>
<addr-line>London, London, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew Lees (neurologue)</name>
<affiliation wicri:level="3"><nlm:aff id="au1"><institution>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</institution>
<addr-line>London, London, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName>National Hospital for Neurology and Neurosurgery</orgName>
</affiliation>
</author>
<author><name sortKey="Korlipara, Prasad" sort="Korlipara, Prasad" uniqKey="Korlipara P" first="Prasad" last="Korlipara">Prasad Korlipara</name>
<affiliation wicri:level="1"><nlm:aff id="au2"><institution>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</institution>
<addr-line>London, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>London</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Limousin, Patricia" sort="Limousin, Patricia" uniqKey="Limousin P" first="Patricia" last="Limousin">Patricia Limousin</name>
<affiliation wicri:level="1"><nlm:aff id="au3"><institution>Unit of Functional Neurosurgery, Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, University College London</institution>
<addr-line>London, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>London</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Paudel, Reema" sort="Paudel, Reema" uniqKey="Paudel R" first="Reema" last="Paudel">Reema Paudel</name>
<affiliation wicri:level="3"><nlm:aff id="au1"><institution>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</institution>
<addr-line>London, London, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M" last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name>
<affiliation wicri:level="1"><nlm:aff id="au4"><institution>Department of Neurology, Faculty of Medicine University of Thessaly</institution>
<addr-line>Larissa, Greece</addr-line>
</nlm:aff>
<country xml:lang="fr">Grèce</country>
<wicri:regionArea>Larissa</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name>
<affiliation wicri:level="1"><nlm:aff id="au2"><institution>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</institution>
<addr-line>London, United Kingdom</addr-line>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>London</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series><title level="j">Movement Disorders</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2012">2012</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Apoptosis Regulatory Proteins (genetics)</term>
<term>DNA-Binding Proteins (genetics)</term>
<term>Databases, Factual (statistics & numerical data)</term>
<term>Diagnosis, Computer-Assisted</term>
<term>Dystonia (genetics)</term>
<term>Dystonia (mortality)</term>
<term>Dystonia (physiopathology)</term>
<term>Female</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation (genetics)</term>
<term>Nuclear Proteins (genetics)</term>
<term>Phenotype</term>
<term>Predictive Value of Tests</term>
<term>Survival Analysis</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Apoptosis Regulatory Proteins</term>
<term>DNA-Binding Proteins</term>
<term>Nuclear Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term>
<term>Genetic Predisposition to Disease</term>
<term>Mutation</term>
</keywords>
<keywords scheme="MESH" qualifier="mortality" xml:lang="en"><term>Dystonia</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Dystonia</term>
</keywords>
<keywords scheme="MESH" qualifier="statistics & numerical data" xml:lang="en"><term>Databases, Factual</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Diagnosis, Computer-Assisted</term>
<term>Female</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Phenotype</term>
<term>Predictive Value of Tests</term>
<term>Survival Analysis</term>
<term>Young Adult</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p><italic>THAP1</italic>
mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the <italic>THAP1</italic>
gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been difficult to identify clear genotype phenotype patterns. Here, we screened the <italic>THAP1</italic>
gene in a further series of dystonia cases and evaluated the mutation pathogenicity in this series as well as previously reported mutations to investigate possible phenotype-genotype correlations. THAP1 mutations have been identified throughout the coding region of the gene, with the greatest concentration of variants localized to the <italic>THAP1</italic>
domain. In the additional cases analyzed here, a further two mutations were found. No obvious, indisputable genotype-phenotype correlation emerged from these data. However, we managed to find a correlation between the pathogenicity of mutations, distribution, and age of onset of dystonia. THAP1 mutations are an important cause of dystonia, but, as yet, no clear genotype-phenotype correlations have been identified. Greater mutation numbers in different populations will be important and mutation-specific functional studies will be essential to identify the pathogenicity of the various THAP1 mutations. © 2012 <italic>Movement</italic>
Disorder Society</p>
</div>
</front>
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