DYT6 Dystonia: Mutation Screening, Phenotype, and Response to Deep Brain Stimulation
Identifieur interne : 000B30 ( PascalFrancis/Checkpoint ); précédent : 000B29; suivant : 000B31DYT6 Dystonia: Mutation Screening, Phenotype, and Response to Deep Brain Stimulation
Auteurs : Justus L. Groen [Pays-Bas] ; Katja Ritz [Pays-Bas] ; Maria Fiorella Contarino [Pays-Bas] ; Bart P. Van De Warrenburg [Pays-Bas] ; Majid Aramideh [Pays-Bas] ; Elisabeth M. Foncke [Pays-Bas] ; Jacobus J. Van Hilten [Pays-Bas] ; P. Richard Schuurman [Pays-Bas] ; Johannes D. Speelman [Pays-Bas] ; Johannes H. Koelman [Pays-Bas] ; Rob M. A. De Bie [Pays-Bas] ; Frank Baas [Pays-Bas] ; Marina A. Tijssen [Pays-Bas]Source :
- Movement disorders [ 0885-3185 ] ; 2010.
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Abstract
Mutations in THAP1, a gene encoding a nuclear pro-apoptotic protein, have been associated with DYT6 dystonia. First reports on the phenotype of DYT6 dystonia show an early onset dystonia with predominant cranio-cervical and laryngeal involvement. Here we assessed the frequency and phenotype of THAP1 mutation carriers in a large Dutch cohort of adult-onset (≥26 years) dystonia (n = 388) and early-onset dystonia (n = 67) patients. We describe the phenotype of DYT6 dystonia patients and their response on GPi DBS. Overall, 3 nonsynonymous heterozygous mutations were detected in the early-onset group (4.5%). Two DYT6 families were identified, showing a heterozygous phenotype. All patients had segmental or generalized dystonia, often associated with profound oromandibular and laryngeal involvement. No nonsynonymous mutations were found in patients with adult-onset focal dystonia. Rare synonymous variants were identified in conserved regions of THAP1, two in the adult-onset cervical dystonia group and one in the control group. Four DYT6 dystonia patients were treated with GPi DBS with moderate to good response on motor function but marginal benefit on speech.
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">DYT6 Dystonia: Mutation Screening, Phenotype, and Response to Deep Brain Stimulation</title><author><name sortKey="Groen, Justus L" sort="Groen, Justus L" uniqKey="Groen J" first="Justus L." last="Groen">Justus L. Groen</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Academic Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Neurogenetics, Academic Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Ritz, Katja" sort="Ritz, Katja" uniqKey="Ritz K" first="Katja" last="Ritz">Katja Ritz</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Neurogenetics, Academic Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Contarino, Maria Fiorella" sort="Contarino, Maria Fiorella" uniqKey="Contarino M" first="Maria Fiorella" last="Contarino">Maria Fiorella Contarino</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Academic Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Van De Warrenburg, Bart P" sort="Van De Warrenburg, Bart P" uniqKey="Van De Warrenburg B" first="Bart P." last="Van De Warrenburg">Bart P. Van De Warrenburg</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Neurology, Donders Centre for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>4 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Aramideh, Majid" sort="Aramideh, Majid" uniqKey="Aramideh M" first="Majid" last="Aramideh">Majid Aramideh</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Medical Centre Alkmaar</s1><s2>Alkmaar</s2><s3>NLD</s3><sZ>5 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Alkmaar</wicri:noRegion></affiliation></author><author><name sortKey="Foncke, Elisabeth M" sort="Foncke, Elisabeth M" uniqKey="Foncke E" first="Elisabeth M." last="Foncke">Elisabeth M. Foncke</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Neurology, VU University Medical Centre</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>6 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Van Hilten, Jacobus J" sort="Van Hilten, Jacobus J" uniqKey="Van Hilten J" first="Jacobus J." last="Van Hilten">Jacobus J. Van Hilten</name><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Department of Neurology, Leiden University Medical Centre</s1><s2>Leiden</s2><s3>NLD</s3><sZ>7 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Schuurman, P Richard" sort="Schuurman, P Richard" uniqKey="Schuurman P" first="P. Richard" last="Schuurman">P. Richard Schuurman</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Department of Neurosurgery, Academic Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>8 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Speelman, Johannes D" sort="Speelman, Johannes D" uniqKey="Speelman J" first="Johannes D." last="Speelman">Johannes D. Speelman</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Academic Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Koelman, Johannes H" sort="Koelman, Johannes H" uniqKey="Koelman J" first="Johannes H." last="Koelman">Johannes H. Koelman</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Academic Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="De Bie, Rob M A" sort="De Bie, Rob M A" uniqKey="De Bie R" first="Rob M. A." last="De Bie">Rob M. A. De Bie</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Academic Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Baas, Frank" sort="Baas, Frank" uniqKey="Baas F" first="Frank" last="Baas">Frank Baas</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Neurogenetics, Academic Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Tijssen, Marina A" sort="Tijssen, Marina A" uniqKey="Tijssen M" first="Marina A." last="Tijssen">Marina A. Tijssen</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Academic Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">10-0491599</idno><date when="2010">2010</date><idno type="stanalyst">PASCAL 10-0491599 INIST</idno><idno type="RBID">Pascal:10-0491599</idno><idno type="wicri:Area/PascalFrancis/Corpus">000840</idno><idno type="wicri:Area/PascalFrancis/Curation">002479</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000B30</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">DYT6 Dystonia: Mutation Screening, Phenotype, and Response to Deep Brain Stimulation</title><author><name sortKey="Groen, Justus L" sort="Groen, Justus L" uniqKey="Groen J" first="Justus L." last="Groen">Justus L. Groen</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Academic Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Neurogenetics, Academic Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Ritz, Katja" sort="Ritz, Katja" uniqKey="Ritz K" first="Katja" last="Ritz">Katja Ritz</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Neurogenetics, Academic Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Contarino, Maria Fiorella" sort="Contarino, Maria Fiorella" uniqKey="Contarino M" first="Maria Fiorella" last="Contarino">Maria Fiorella Contarino</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Academic Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Van De Warrenburg, Bart P" sort="Van De Warrenburg, Bart P" uniqKey="Van De Warrenburg B" first="Bart P." last="Van De Warrenburg">Bart P. Van De Warrenburg</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Neurology, Donders Centre for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>4 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Aramideh, Majid" sort="Aramideh, Majid" uniqKey="Aramideh M" first="Majid" last="Aramideh">Majid Aramideh</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Medical Centre Alkmaar</s1><s2>Alkmaar</s2><s3>NLD</s3><sZ>5 aut.</sZ></inist:fA14><country>Pays-Bas</country><wicri:noRegion>Alkmaar</wicri:noRegion></affiliation></author><author><name sortKey="Foncke, Elisabeth M" sort="Foncke, Elisabeth M" uniqKey="Foncke E" first="Elisabeth M." last="Foncke">Elisabeth M. Foncke</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Neurology, VU University Medical Centre</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>6 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Van Hilten, Jacobus J" sort="Van Hilten, Jacobus J" uniqKey="Van Hilten J" first="Jacobus J." last="Van Hilten">Jacobus J. Van Hilten</name><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Department of Neurology, Leiden University Medical Centre</s1><s2>Leiden</s2><s3>NLD</s3><sZ>7 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Schuurman, P Richard" sort="Schuurman, P Richard" uniqKey="Schuurman P" first="P. Richard" last="Schuurman">P. Richard Schuurman</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Department of Neurosurgery, Academic Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>8 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Speelman, Johannes D" sort="Speelman, Johannes D" uniqKey="Speelman J" first="Johannes D." last="Speelman">Johannes D. Speelman</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Academic Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Koelman, Johannes H" sort="Koelman, Johannes H" uniqKey="Koelman J" first="Johannes H." last="Koelman">Johannes H. Koelman</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Academic Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="De Bie, Rob M A" sort="De Bie, Rob M A" uniqKey="De Bie R" first="Rob M. A." last="De Bie">Rob M. A. De Bie</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Academic Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Baas, Frank" sort="Baas, Frank" uniqKey="Baas F" first="Frank" last="Baas">Frank Baas</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Neurogenetics, Academic Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Tijssen, Marina A" sort="Tijssen, Marina A" uniqKey="Tijssen M" first="Marina A." last="Tijssen">Marina A. Tijssen</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Academic Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</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="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>Deep brain stimulation</term><term>Dystonia</term><term>Medical screening</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>Dépistage</term><term>Phénotype</term><term>Stimulation cérébrale profonde</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in THAP1, a gene encoding a nuclear pro-apoptotic protein, have been associated with DYT6 dystonia. First reports on the phenotype of DYT6 dystonia show an early onset dystonia with predominant cranio-cervical and laryngeal involvement. Here we assessed the frequency and phenotype of THAP1 mutation carriers in a large Dutch cohort of adult-onset (≥26 years) dystonia (n = 388) and early-onset dystonia (n = 67) patients. We describe the phenotype of DYT6 dystonia patients and their response on GPi DBS. Overall, 3 nonsynonymous heterozygous mutations were detected in the early-onset group (4.5%). Two DYT6 families were identified, showing a heterozygous phenotype. All patients had segmental or generalized dystonia, often associated with profound oromandibular and laryngeal involvement. No nonsynonymous mutations were found in patients with adult-onset focal dystonia. Rare synonymous variants were identified in conserved regions of THAP1, two in the adult-onset cervical dystonia group and one in the control group. Four DYT6 dystonia patients were treated with GPi DBS with moderate to good response on motor function but marginal benefit on speech.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>25</s2></fA05><fA06><s2>14</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>DYT6 Dystonia: Mutation Screening, Phenotype, and Response to Deep Brain Stimulation</s1></fA08><fA11 i1="01" i2="1"><s1>GROEN (Justus L.)</s1></fA11><fA11 i1="02" i2="1"><s1>RITZ (Katja)</s1></fA11><fA11 i1="03" i2="1"><s1>CONTARINO (Maria Fiorella)</s1></fA11><fA11 i1="04" i2="1"><s1>VAN DE WARRENBURG (Bart P.)</s1></fA11><fA11 i1="05" i2="1"><s1>ARAMIDEH (Majid)</s1></fA11><fA11 i1="06" i2="1"><s1>FONCKE (Elisabeth M.)</s1></fA11><fA11 i1="07" i2="1"><s1>VAN HILTEN (Jacobus J.)</s1></fA11><fA11 i1="08" i2="1"><s1>SCHUURMAN (P. Richard)</s1></fA11><fA11 i1="09" i2="1"><s1>SPEELMAN (Johannes D.)</s1></fA11><fA11 i1="10" i2="1"><s1>KOELMAN (Johannes H.)</s1></fA11><fA11 i1="11" i2="1"><s1>DE BIE (Rob M. A.)</s1></fA11><fA11 i1="12" i2="1"><s1>BAAS (Frank)</s1></fA11><fA11 i1="13" i2="1"><s1>TIJSSEN (Marina A.)</s1></fA11><fA14 i1="01"><s1>Department of Neurology, Academic Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ><sZ>13 aut.</sZ></fA14><fA14 i1="02"><s1>Department of Neurogenetics, Academic Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>12 aut.</sZ></fA14><fA14 i1="03"><s1>Department of Neurology, Donders Centre for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>4 aut.</sZ></fA14><fA14 i1="04"><s1>Department of Neurology, Medical Centre Alkmaar</s1><s2>Alkmaar</s2><s3>NLD</s3><sZ>5 aut.</sZ></fA14><fA14 i1="05"><s1>Department of Neurology, VU University Medical Centre</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>6 aut.</sZ></fA14><fA14 i1="06"><s1>Department of Neurology, Leiden University Medical Centre</s1><s2>Leiden</s2><s3>NLD</s3><sZ>7 aut.</sZ></fA14><fA14 i1="07"><s1>Department of Neurosurgery, Academic Medical Center, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>8 aut.</sZ></fA14><fA20><s1>2420-2427</s1></fA20><fA21><s1>2010</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000192780100220</s5></fA43><fA44><s0>0000</s0><s1>© 2010 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>29 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>10-0491599</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>Mutations in THAP1, a gene encoding a nuclear pro-apoptotic protein, have been associated with DYT6 dystonia. First reports on the phenotype of DYT6 dystonia show an early onset dystonia with predominant cranio-cervical and laryngeal involvement. Here we assessed the frequency and phenotype of THAP1 mutation carriers in a large Dutch cohort of adult-onset (≥26 years) dystonia (n = 388) and early-onset dystonia (n = 67) patients. We describe the phenotype of DYT6 dystonia patients and their response on GPi DBS. Overall, 3 nonsynonymous heterozygous mutations were detected in the early-onset group (4.5%). Two DYT6 families were identified, showing a heterozygous phenotype. All patients had segmental or generalized dystonia, often associated with profound oromandibular and laryngeal involvement. No nonsynonymous mutations were found in patients with adult-onset focal dystonia. Rare synonymous variants were identified in conserved regions of THAP1, two in the adult-onset cervical dystonia group and one in the control group. Four DYT6 dystonia patients were treated with GPi DBS with moderate to good response on motor function but marginal benefit on speech.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17H</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Dystonie</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Dystonia</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Distonía</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Pathologie du système nerveux</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Mutation</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Mutation</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Mutación</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Dépistage</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Medical screening</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Descubrimiento</s0><s5>10</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Phénotype</s0><s5>11</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Phenotype</s0><s5>11</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Fenotipo</s0><s5>11</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Stimulation cérébrale profonde</s0><s4>CD</s4><s5>96</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>Deep brain stimulation</s0><s4>CD</s4><s5>96</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Mouvement involontaire</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Involuntary movement</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Movimiento involuntario</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Pathologie du muscle strié</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Striated muscle disease</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Músculo estriado patología</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Trouble neurologique</s0><s5>41</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Neurological disorder</s0><s5>41</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Trastorno neurológico</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0><s5>42</s5></fC07><fC07 i1="05" i2="X" l="ENG"><s0>Cerebral disorder</s0><s5>42</s5></fC07><fC07 i1="05" i2="X" l="SPA"><s0>Encéfalo patología</s0><s5>42</s5></fC07><fC07 i1="06" i2="X" l="FRE"><s0>Pathologie du système nerveux central</s0><s5>43</s5></fC07><fC07 i1="06" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>43</s5></fC07><fC07 i1="06" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>43</s5></fC07><fN21><s1>326</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist><affiliations><list><country><li>Pays-Bas</li></country><region><li>Gueldre</li><li>Hollande-Méridionale</li><li>Hollande-Septentrionale</li></region><settlement><li>Amsterdam</li><li>Leyde</li><li>Nimègue</li></settlement></list><tree><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Groen, Justus L" sort="Groen, Justus L" uniqKey="Groen J" first="Justus L." last="Groen">Justus L. Groen</name></region><name sortKey="Aramideh, Majid" sort="Aramideh, Majid" uniqKey="Aramideh M" first="Majid" last="Aramideh">Majid Aramideh</name><name sortKey="Baas, Frank" sort="Baas, Frank" uniqKey="Baas F" first="Frank" last="Baas">Frank Baas</name><name sortKey="Contarino, Maria Fiorella" sort="Contarino, Maria Fiorella" uniqKey="Contarino M" first="Maria Fiorella" last="Contarino">Maria Fiorella Contarino</name><name sortKey="De Bie, Rob M A" sort="De Bie, Rob M A" uniqKey="De Bie R" first="Rob M. A." last="De Bie">Rob M. A. De Bie</name><name sortKey="Foncke, Elisabeth M" sort="Foncke, Elisabeth M" uniqKey="Foncke E" first="Elisabeth M." last="Foncke">Elisabeth M. Foncke</name><name sortKey="Groen, Justus L" sort="Groen, Justus L" uniqKey="Groen J" first="Justus L." last="Groen">Justus L. Groen</name><name sortKey="Koelman, Johannes H" sort="Koelman, Johannes H" uniqKey="Koelman J" first="Johannes H." last="Koelman">Johannes H. Koelman</name><name sortKey="Ritz, Katja" sort="Ritz, Katja" uniqKey="Ritz K" first="Katja" last="Ritz">Katja Ritz</name><name sortKey="Schuurman, P Richard" sort="Schuurman, P Richard" uniqKey="Schuurman P" first="P. Richard" last="Schuurman">P. Richard Schuurman</name><name sortKey="Speelman, Johannes D" sort="Speelman, Johannes D" uniqKey="Speelman J" first="Johannes D." last="Speelman">Johannes D. Speelman</name><name sortKey="Tijssen, Marina A" sort="Tijssen, Marina A" uniqKey="Tijssen M" first="Marina A." last="Tijssen">Marina A. Tijssen</name><name sortKey="Van De Warrenburg, Bart P" sort="Van De Warrenburg, Bart P" uniqKey="Van De Warrenburg B" first="Bart P." last="Van De Warrenburg">Bart P. Van De Warrenburg</name><name sortKey="Van Hilten, Jacobus J" sort="Van Hilten, Jacobus J" uniqKey="Van Hilten J" first="Jacobus J." last="Van Hilten">Jacobus J. Van Hilten</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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