DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.
Identifieur interne : 002D76 ( Ncbi/Checkpoint ); précédent : 002D75; suivant : 002D77DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.
Auteurs : Justus L. Groen [Pays-Bas] ; Katja Ritz ; Maria Fiorella Contarino ; Bart P. Van De Warrenburg ; Majid Aramideh ; Elisabeth M. Foncke ; Jacobus J. Van Hilten ; P Richard Schuurman ; Johannes D. Speelman ; Johannes H. Koelman ; Rob M A. De Bie ; Frank Baas ; Marina A. TijssenSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
Descripteurs français
- Wicri :
- geographic : Pays-Bas.
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Aged, Apoptosis Regulatory Proteins (genetics), Cohort Studies, DNA-Binding Proteins (genetics), Deep Brain Stimulation (methods), Dystonia Musculorum Deformans (genetics), Dystonia Musculorum Deformans (physiopathology), Dystonia Musculorum Deformans (therapy), Family Health, Female, Genetic Testing (methods), Genotype, Globus Pallidus (physiology), Humans, Male, Middle Aged, Mutation (genetics), Netherlands (epidemiology), Nuclear Proteins (genetics), Phenotype, Young Adult.
- MESH :
- chemical , genetics : Apoptosis Regulatory Proteins, DNA-Binding Proteins, Nuclear Proteins.
- geographic , epidemiology : Netherlands.
- genetics : Dystonia Musculorum Deformans, Mutation.
- methods : Deep Brain Stimulation, Genetic Testing.
- physiology : Globus Pallidus.
- physiopathology : Dystonia Musculorum Deformans.
- therapy : Dystonia Musculorum Deformans.
- Adolescent, Adult, Age of Onset, Aged, Cohort Studies, Family Health, Female, Genotype, Humans, Male, Middle Aged, Phenotype, Young Adult.
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.
DOI: 10.1002/mds.23285
PubMed: 20687191
Affiliations:
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Groen</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam</wicri:regionArea><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></author><author><name sortKey="Contarino, Maria Fiorella" sort="Contarino, Maria Fiorella" uniqKey="Contarino M" first="Maria Fiorella" last="Contarino">Maria Fiorella Contarino</name></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></author><author><name sortKey="Aramideh, Majid" sort="Aramideh, Majid" uniqKey="Aramideh M" first="Majid" last="Aramideh">Majid Aramideh</name></author><author><name sortKey="Foncke, Elisabeth M" sort="Foncke, Elisabeth M" uniqKey="Foncke E" first="Elisabeth M" last="Foncke">Elisabeth M. Foncke</name></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></author><author><name sortKey="Schuurman, P Richard" sort="Schuurman, P Richard" uniqKey="Schuurman P" first="P Richard" last="Schuurman">P Richard Schuurman</name></author><author><name sortKey="Speelman, Johannes D" sort="Speelman, Johannes D" uniqKey="Speelman J" first="Johannes D" last="Speelman">Johannes D. Speelman</name></author><author><name sortKey="Koelman, Johannes H" sort="Koelman, Johannes H" uniqKey="Koelman J" first="Johannes H" last="Koelman">Johannes H. Koelman</name></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></author><author><name sortKey="Baas, Frank" sort="Baas, Frank" uniqKey="Baas F" first="Frank" last="Baas">Frank Baas</name></author><author><name sortKey="Tijssen, Marina A" sort="Tijssen, Marina A" uniqKey="Tijssen M" first="Marina A" last="Tijssen">Marina A. Tijssen</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2010">2010</date><idno type="doi">10.1002/mds.23285</idno><idno type="RBID">pubmed:20687191</idno><idno type="pmid">20687191</idno><idno type="wicri:Area/PubMed/Corpus">001641</idno><idno type="wicri:Area/PubMed/Curation">001641</idno><idno type="wicri:Area/PubMed/Checkpoint">001958</idno><idno type="wicri:Area/Ncbi/Merge">002D76</idno><idno type="wicri:Area/Ncbi/Curation">002D76</idno><idno type="wicri:Area/Ncbi/Checkpoint">002D76</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">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"><nlm:affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam</wicri:regionArea><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></author><author><name sortKey="Contarino, Maria Fiorella" sort="Contarino, Maria Fiorella" uniqKey="Contarino M" first="Maria Fiorella" last="Contarino">Maria Fiorella Contarino</name></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></author><author><name sortKey="Aramideh, Majid" sort="Aramideh, Majid" uniqKey="Aramideh M" first="Majid" last="Aramideh">Majid Aramideh</name></author><author><name sortKey="Foncke, Elisabeth M" sort="Foncke, Elisabeth M" uniqKey="Foncke E" first="Elisabeth M" last="Foncke">Elisabeth M. Foncke</name></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></author><author><name sortKey="Schuurman, P Richard" sort="Schuurman, P Richard" uniqKey="Schuurman P" first="P Richard" last="Schuurman">P Richard Schuurman</name></author><author><name sortKey="Speelman, Johannes D" sort="Speelman, Johannes D" uniqKey="Speelman J" first="Johannes D" last="Speelman">Johannes D. Speelman</name></author><author><name sortKey="Koelman, Johannes H" sort="Koelman, Johannes H" uniqKey="Koelman J" first="Johannes H" last="Koelman">Johannes H. Koelman</name></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></author><author><name sortKey="Baas, Frank" sort="Baas, Frank" uniqKey="Baas F" first="Frank" last="Baas">Frank Baas</name></author><author><name sortKey="Tijssen, Marina A" sort="Tijssen, Marina A" uniqKey="Tijssen M" first="Marina A" last="Tijssen">Marina A. Tijssen</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Apoptosis Regulatory Proteins (genetics)</term><term>Cohort Studies</term><term>DNA-Binding Proteins (genetics)</term><term>Deep Brain Stimulation (methods)</term><term>Dystonia Musculorum Deformans (genetics)</term><term>Dystonia Musculorum Deformans (physiopathology)</term><term>Dystonia Musculorum Deformans (therapy)</term><term>Family Health</term><term>Female</term><term>Genetic Testing (methods)</term><term>Genotype</term><term>Globus Pallidus (physiology)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Netherlands (epidemiology)</term><term>Nuclear Proteins (genetics)</term><term>Phenotype</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" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Netherlands</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia Musculorum Deformans</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Deep Brain Stimulation</term><term>Genetic Testing</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Globus Pallidus</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Dystonia Musculorum Deformans</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Dystonia Musculorum Deformans</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Cohort Studies</term><term>Family Health</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Phenotype</term><term>Young Adult</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Pays-Bas</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><affiliations><list><country><li>Pays-Bas</li></country><region><li>Hollande-Septentrionale</li></region><settlement><li>Amsterdam</li></settlement></list><tree><noCountry><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="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></noCountry><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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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