MovDisordV3, PascalFrancis, Corpus, bibRecord, 000093

THAP1 Mutations And Dystonia Phenotypes: Genotype Phenotype Correlations

Identifieur interne : 000093 ( PascalFrancis/Corpus ); précédent : 000092; suivant : 000094

THAP1 Mutations And Dystonia Phenotypes: Genotype Phenotype Correlations

Auteurs : Georgia Xiromerisiou ; Henry Houlden ; Nikolaos Scarmeas ; Maria Stamelou ; Eleanna Kara ; John Hardy ; Andrew J. Lees ; Prasad Korlipara ; Patricia Limousin ; Reema Paudel ; Georgios M. Hadjigeorgiou ; Kailash P. Bhatia

Source :

Movement disorders [ 0885-3185 ] ; 2012.

RBID : Pascal:12-0369633

Descripteurs français

Pascal (Inist)
- Dystonie, Pathologie du système nerveux, Mutation, Phénotype, Génotype.

English descriptors

KwdEn :
- Dystonia, Genotype, Mutation, Nervous system diseases, Phenotype.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A08	`01`	`1`	`ENG`	`@1 THAP1 Mutations And Dystonia Phenotypes: Genotype Phenotype Correlations`
A11	`01`	`1`		`@1 XIROMERISIOU (Georgia)`
A11	`02`	`1`		`@1 HOULDEN (Henry)`
A11	`03`	`1`		`@1 SCARMEAS (Nikolaos)`
A11	`04`	`1`		`@1 STAMELOU (Maria)`
A11	`05`	`1`		`@1 KARA (Eleanna)`
A11	`06`	`1`		`@1 HARDY (John)`
A11	`07`	`1`		`@1 LEES (Andrew J.)`
A11	`08`	`1`		`@1 KORLIPARA (Prasad)`
A11	`09`	`1`		`@1 LIMOUSIN (Patricia)`
A11	`10`	`1`		`@1 PAUDEL (Reema)`
A11	`11`	`1`		`@1 HADJIGEORGIOU (Georgios M.)`
A11	`12`	`1`		`@1 BHATIA (Kailash P.)`
A14	`01`			`@1 Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology @2 London, London @3 GBR @Z 1 aut. @Z 2 aut. @Z 5 aut. @Z 6 aut. @Z 7 aut. @Z 10 aut.`
A14	`02`			`@1 Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology @2 London @3 GBR @Z 4 aut. @Z 8 aut. @Z 12 aut.`
A14	`03`			`@1 Unit of Functional Neurosurgery, Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, University College London @2 London @3 GBR @Z 9 aut.`
A14	`04`			`@1 Department of Neurology, Faculty of Medicine University of Thessaly @2 Larissa @3 GRC @Z 1 aut. @Z 11 aut.`
A14	`05`			`@1 Taub Institute, Sergievsky Center, Department of Neurology, Columbia University @2 New York, New York @3 USA @Z 3 aut.`
A14	`06`			`@1 Department of Neurology, Medical School of National and Kapodistrian University of Athens @2 Athens @3 GRC @Z 3 aut.`
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A21				`@1 2012`
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A44				`@0 0000 @1 © 2012 INIST-CNRS. All rights reserved.`
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A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17H`
C03	`01`	`X`	`FRE`	`@0 Dystonie @5 01`
C03	`01`	`X`	`ENG`	`@0 Dystonia @5 01`
C03	`01`	`X`	`SPA`	`@0 Distonía @5 01`
C03	`02`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 02`
C03	`02`	`X`	`ENG`	`@0 Nervous system diseases @5 02`
C03	`02`	`X`	`SPA`	`@0 Sistema nervioso patología @5 02`
C03	`03`	`X`	`FRE`	`@0 Mutation @5 09`
C03	`03`	`X`	`ENG`	`@0 Mutation @5 09`
C03	`03`	`X`	`SPA`	`@0 Mutación @5 09`
C03	`04`	`X`	`FRE`	`@0 Phénotype @5 10`
C03	`04`	`X`	`ENG`	`@0 Phenotype @5 10`
C03	`04`	`X`	`SPA`	`@0 Fenotipo @5 10`
C03	`05`	`X`	`FRE`	`@0 Génotype @5 11`
C03	`05`	`X`	`ENG`	`@0 Genotype @5 11`
C03	`05`	`X`	`SPA`	`@0 Genotipo @5 11`
C07	`01`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 37`
C07	`01`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 37`
C07	`01`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 37`
C07	`02`	`X`	`FRE`	`@0 Mouvement involontaire @5 38`
C07	`02`	`X`	`ENG`	`@0 Involuntary movement @5 38`
C07	`02`	`X`	`SPA`	`@0 Movimiento involuntario @5 38`
C07	`03`	`X`	`FRE`	`@0 Pathologie du muscle strié @5 39`
C07	`03`	`X`	`ENG`	`@0 Striated muscle disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Músculo estriado patología @5 39`
C07	`04`	`X`	`FRE`	`@0 Trouble neurologique @5 41`
C07	`04`	`X`	`ENG`	`@0 Neurological disorder @5 41`
C07	`04`	`X`	`SPA`	`@0 Trastorno neurológico @5 41`
C07	`05`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 42`
C07	`05`	`X`	`ENG`	`@0 Cerebral disorder @5 42`
C07	`05`	`X`	`SPA`	`@0 Encéfalo patología @5 42`
C07	`06`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 43`
C07	`06`	`X`	`ENG`	`@0 Central nervous system disease @5 43`
C07	`06`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 43`
N21				`@1 289`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 12-0369633 INIST
ET :	THAP1 Mutations And Dystonia Phenotypes: Genotype Phenotype Correlations
AU :	XIROMERISIOU (Georgia); HOULDEN (Henry); SCARMEAS (Nikolaos); STAMELOU (Maria); KARA (Eleanna); HARDY (John); LEES (Andrew J.); KORLIPARA (Prasad); LIMOUSIN (Patricia); PAUDEL (Reema); HADJIGEORGIOU (Georgios M.); BHATIA (Kailash P.)
AF :	Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology/London, London/Royaume-Uni (1 aut., 2 aut., 5 aut., 6 aut., 7 aut., 10 aut.); Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology/London/Royaume-Uni (4 aut., 8 aut., 12 aut.); Unit of Functional Neurosurgery, Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, University College London/London/Royaume-Uni (9 aut.); Department of Neurology, Faculty of Medicine University of Thessaly/Larissa/Grèce (1 aut., 11 aut.); Taub Institute, Sergievsky Center, Department of Neurology, Columbia University/New York, New York/Etats-Unis (3 aut.); Department of Neurology, Medical School of National and Kapodistrian University of Athens/Athens/Grèce (3 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2012; Vol. 27; No. 10; Pp. 1290-1294; Bibl. 43 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002B17H
FD :	Dystonie; Pathologie du système nerveux; Mutation; Phénotype; Génotype
FG :	Syndrome extrapyramidal; Mouvement involontaire; Pathologie du muscle strié; Trouble neurologique; Pathologie de l'encéphale; Pathologie du système nerveux central
ED :	Dystonia; Nervous system diseases; Mutation; Phenotype; Genotype
EG :	Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease
SD :	Distonía; Sistema nervioso patología; Mutación; Fenotipo; Genotipo
LO :	INIST-20953.354000502011860170
ID :	12-0369633

Links to Exploration step

Pascal:12-0369633

Le document en format XML

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<author><name sortKey="Korlipara, Prasad" sort="Korlipara, Prasad" uniqKey="Korlipara P" first="Prasad" last="Korlipara">Prasad Korlipara</name>
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<author><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M." last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name>
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<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
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<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><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1>
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<affiliation><inist:fA14 i1="04"><s1>Department of Neurology, Faculty of Medicine University of Thessaly</s1>
<s2>Larissa</s2>
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<author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name>
<affiliation><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>
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<author><name sortKey="Scarmeas, Nikolaos" sort="Scarmeas, Nikolaos" uniqKey="Scarmeas N" first="Nikolaos" last="Scarmeas">Nikolaos Scarmeas</name>
<affiliation><inist:fA14 i1="05"><s1>Taub Institute, Sergievsky Center, Department of Neurology, Columbia University</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
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</affiliation>
<affiliation><inist:fA14 i1="06"><s1>Department of Neurology, Medical School of National and Kapodistrian University of Athens</s1>
<s2>Athens</s2>
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</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Stamelou, Maria" sort="Stamelou, Maria" uniqKey="Stamelou M" first="Maria" last="Stamelou">Maria Stamelou</name>
<affiliation><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>
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<sZ>8 aut.</sZ>
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</inist:fA14>
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</author>
<author><name sortKey="Kara, Eleanna" sort="Kara, Eleanna" uniqKey="Kara E" first="Eleanna" last="Kara">Eleanna Kara</name>
<affiliation><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>
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</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<affiliation><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>
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<author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew J. Lees</name>
<affiliation><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>
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<author><name sortKey="Korlipara, Prasad" sort="Korlipara, Prasad" uniqKey="Korlipara P" first="Prasad" last="Korlipara">Prasad Korlipara</name>
<affiliation><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>
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<author><name sortKey="Limousin, Patricia" sort="Limousin, Patricia" uniqKey="Limousin P" first="Patricia" last="Limousin">Patricia Limousin</name>
<affiliation><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>
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</author>
<author><name sortKey="Paudel, Reema" sort="Paudel, Reema" uniqKey="Paudel R" first="Reema" last="Paudel">Reema Paudel</name>
<affiliation><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>
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<author><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M." last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name>
<affiliation><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>
</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><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>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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<imprint><date when="2012">2012</date>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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<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>
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<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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<sZ>6 aut.</sZ>
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<s2>London</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
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<s2>London</s2>
<s3>GBR</s3>
<sZ>9 aut.</sZ>
</fA14>
<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>
</fA14>
<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>
</fA14>
<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>
</fA14>
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<fN21><s1>289</s1>
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<server><NO>PASCAL 12-0369633 INIST</NO>
<ET>THAP1 Mutations And Dystonia Phenotypes: Genotype Phenotype Correlations</ET>
<AU>XIROMERISIOU (Georgia); HOULDEN (Henry); SCARMEAS (Nikolaos); STAMELOU (Maria); KARA (Eleanna); HARDY (John); LEES (Andrew J.); KORLIPARA (Prasad); LIMOUSIN (Patricia); PAUDEL (Reema); HADJIGEORGIOU (Georgios M.); BHATIA (Kailash P.)</AU>
<AF>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology/London, London/Royaume-Uni (1 aut., 2 aut., 5 aut., 6 aut., 7 aut., 10 aut.); Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology/London/Royaume-Uni (4 aut., 8 aut., 12 aut.); Unit of Functional Neurosurgery, Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, University College London/London/Royaume-Uni (9 aut.); Department of Neurology, Faculty of Medicine University of Thessaly/Larissa/Grèce (1 aut., 11 aut.); Taub Institute, Sergievsky Center, Department of Neurology, Columbia University/New York, New York/Etats-Unis (3 aut.); Department of Neurology, Medical School of National and Kapodistrian University of Athens/Athens/Grèce (3 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2012; Vol. 27; No. 10; Pp. 1290-1294; Bibl. 43 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
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<ED>Dystonia; Nervous system diseases; Mutation; Phenotype; Genotype</ED>
<EG>Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease</EG>
<SD>Distonía; Sistema nervioso patología; Mutación; Fenotipo; Genotipo</SD>
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Movement Disorders (revue)

THAP1 Mutations And Dystonia Phenotypes: Genotype Phenotype Correlations

THAP1 Mutations And Dystonia Phenotypes: Genotype Phenotype Correlations

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