A post hoc study on gene panel analysis for the diagnosis of dystonia.
Identifieur interne : 001292 ( PubMed/Checkpoint ); précédent : 001291; suivant : 001293A post hoc study on gene panel analysis for the diagnosis of dystonia.
Auteurs : Martje E. Van Egmond [Pays-Bas] ; Coen H A. Lugtenberg [Pays-Bas] ; Oebele F. Brouwer [Pays-Bas] ; Maria Fiorella Contarino [Pays-Bas] ; Victor S C. Fung [Australie] ; M Rebecca Heiner-Fokkema [Pays-Bas] ; Jacobus J. Van Hilten [Pays-Bas] ; Annemarie H. Van Der Hout [Pays-Bas] ; Kathryn J. Peall [Royaume-Uni] ; Richard J. Sinke [Pays-Bas] ; Emmanuel Roze [France] ; Corien C. Verschuuren-Bemelmans [Pays-Bas] ; Michel A. Willemsen [Pays-Bas] ; Nicole I. Wolf [Pays-Bas] ; Marina A. Tijssen [Pays-Bas] ; Tom J. De Koning [Pays-Bas]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2017.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Adulte d'âge moyen, Analyse de mutations d'ADN (), Analyse de mutations d'ADN (économie), Coûts et analyse des coûts, Dystonie (diagnostic), Dystonie (génétique), Enfant, Femelle, Humains, Imagerie par résonance magnétique, Jeune adulte, Mutation (génétique), Mâle, Protéines de tissu nerveux (génétique), Protéines membranaires (génétique), Âge de début, Études de cohortes, Évaluation de résultat (soins).
- MESH :
- diagnostic : Dystonie.
- génétique : Dystonie, Mutation, Protéines de tissu nerveux, Protéines membranaires.
- économie : Analyse de mutations d'ADN.
- Adolescent, Adulte, Adulte d'âge moyen, Analyse de mutations d'ADN, Coûts et analyse des coûts, Enfant, Femelle, Humains, Imagerie par résonance magnétique, Jeune adulte, Mâle, Âge de début, Études de cohortes, Évaluation de résultat (soins).
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Child, Cohort Studies, Costs and Cost Analysis, DNA Mutational Analysis (economics), DNA Mutational Analysis (methods), Dystonia (diagnosis), Dystonia (genetics), Female, Humans, Magnetic Resonance Imaging, Male, Membrane Proteins (genetics), Middle Aged, Mutation (genetics), Nerve Tissue Proteins (genetics), Outcome Assessment (Health Care), Young Adult.
- MESH :
- chemical , genetics : Membrane Proteins, Nerve Tissue Proteins.
- diagnosis : Dystonia.
- economics : DNA Mutational Analysis.
- genetics : Dystonia, Mutation.
- methods : DNA Mutational Analysis.
- Adolescent, Adult, Age of Onset, Child, Cohort Studies, Costs and Cost Analysis, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Outcome Assessment (Health Care), Young Adult.
Abstract
Genetic disorders causing dystonia show great heterogeneity. Recent studies have suggested that next-generation sequencing techniques such as gene panel analysis can be effective in diagnosing heterogeneous conditions. The objective of this study was to investigate whether dystonia patients with a suspected genetic cause could benefit from the use of gene panel analysis.
DOI: 10.1002/mds.26937
PubMed: 28186668
Affiliations:
- Australie, France, Pays-Bas, Royaume-Uni
- Groningue (province), Gueldre, Hollande-Méridionale, Hollande-Septentrionale, Nouvelle-Galles du Sud, Île-de-France
- Amsterdam, Groningue, Groningue (ville), Leyde, Nimègue, Paris, Sydney
- Université de Groningue, Université de Sydney
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Van Der Hout</name><affiliation wicri:level="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author><author><name sortKey="Peall, Kathryn J" sort="Peall, Kathryn J" uniqKey="Peall K" first="Kathryn J" last="Peall">Kathryn J. Peall</name><affiliation wicri:level="1"><nlm:affiliation>MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff</wicri:regionArea><wicri:noRegion>Cardiff</wicri:noRegion></affiliation></author><author><name sortKey="Sinke, Richard J" sort="Sinke, Richard J" uniqKey="Sinke R" first="Richard J" last="Sinke">Richard J. 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Verschuuren-Bemelmans</name><affiliation wicri:level="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author><author><name sortKey="Willemsen, Michel A" sort="Willemsen, Michel A" uniqKey="Willemsen M" first="Michel A" last="Willemsen">Michel A. Willemsen</name><affiliation wicri:level="3"><nlm:affiliation>Radboud University Medical Centre, Department of Paediatric Neurology, Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Radboud University Medical Centre, Department of Paediatric Neurology, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Wolf, Nicole I" sort="Wolf, Nicole I" uniqKey="Wolf N" first="Nicole I" last="Wolf">Nicole I. Wolf</name><affiliation wicri:level="3"><nlm:affiliation>VU University Medical Centre, Department of Child Neurology and Neuroscience Campus Amsterdam, Amsterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>VU University Medical Centre, Department of Child Neurology and Neuroscience Campus Amsterdam, Amsterdam</wicri:regionArea><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="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author><author><name sortKey="De Koning, Tom J" sort="De Koning, Tom J" uniqKey="De Koning T" first="Tom J" last="De Koning">Tom J. De Koning</name><affiliation wicri:level="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28186668</idno><idno type="pmid">28186668</idno><idno type="doi">10.1002/mds.26937</idno><idno type="wicri:Area/PubMed/Corpus">000D87</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000D87</idno><idno type="wicri:Area/PubMed/Curation">000D84</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000D84</idno><idno type="wicri:Area/PubMed/Checkpoint">000D84</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000D84</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">A post hoc study on gene panel analysis for the diagnosis of dystonia.</title><author><name sortKey="Van Egmond, Martje E" sort="Van Egmond, Martje E" uniqKey="Van Egmond M" first="Martje E" last="Van Egmond">Martje E. Van Egmond</name><affiliation wicri:level="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author><author><name sortKey="Lugtenberg, Coen H A" sort="Lugtenberg, Coen H A" uniqKey="Lugtenberg C" first="Coen H A" last="Lugtenberg">Coen H A. Lugtenberg</name><affiliation wicri:level="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author><author><name sortKey="Brouwer, Oebele F" sort="Brouwer, Oebele F" uniqKey="Brouwer O" first="Oebele F" last="Brouwer">Oebele F. Brouwer</name><affiliation wicri:level="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></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"><nlm:affiliation>Department of Neurology, Leiden University Medical Centre, Leiden, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Fung, Victor S C" sort="Fung, Victor S C" uniqKey="Fung V" first="Victor S C" last="Fung">Victor S C. Fung</name><affiliation wicri:level="4"><nlm:affiliation>Movement Disorders Unit, Department of Neurology, Westmead Hospital & Sydney Medical School, University of Sydney, Sydney, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Movement Disorders Unit, Department of Neurology, Westmead Hospital & Sydney Medical School, University of Sydney, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region><settlement type="city">Sydney</settlement></placeName><orgName type="university">Université de Sydney</orgName></affiliation></author><author><name sortKey="Heiner Fokkema, M Rebecca" sort="Heiner Fokkema, M Rebecca" uniqKey="Heiner Fokkema M" first="M Rebecca" last="Heiner-Fokkema">M Rebecca Heiner-Fokkema</name><affiliation wicri:level="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Laboratory Medicine, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Laboratory Medicine, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></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"><nlm:affiliation>Department of Neurology, Leiden University Medical Centre, Leiden, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Van Der Hout, Annemarie H" sort="Van Der Hout, Annemarie H" uniqKey="Van Der Hout A" first="Annemarie H" last="Van Der Hout">Annemarie H. Van Der Hout</name><affiliation wicri:level="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author><author><name sortKey="Peall, Kathryn J" sort="Peall, Kathryn J" uniqKey="Peall K" first="Kathryn J" last="Peall">Kathryn J. Peall</name><affiliation wicri:level="1"><nlm:affiliation>MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff</wicri:regionArea><wicri:noRegion>Cardiff</wicri:noRegion></affiliation></author><author><name sortKey="Sinke, Richard J" sort="Sinke, Richard J" uniqKey="Sinke R" first="Richard J" last="Sinke">Richard J. Sinke</name><affiliation wicri:level="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author><author><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name><affiliation wicri:level="3"><nlm:affiliation>Département de Neurologie, AP-HP, Hôpital Pitié-Salpêtrière and Sorbonne Universités, Université Pierre and Marie Curie, Institut du Cerveau et de la Moelle épinière, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Neurologie, AP-HP, Hôpital Pitié-Salpêtrière and Sorbonne Universités, Université Pierre and Marie Curie, Institut du Cerveau et de la Moelle épinière, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Verschuuren Bemelmans, Corien C" sort="Verschuuren Bemelmans, Corien C" uniqKey="Verschuuren Bemelmans C" first="Corien C" last="Verschuuren-Bemelmans">Corien C. Verschuuren-Bemelmans</name><affiliation wicri:level="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author><author><name sortKey="Willemsen, Michel A" sort="Willemsen, Michel A" uniqKey="Willemsen M" first="Michel A" last="Willemsen">Michel A. Willemsen</name><affiliation wicri:level="3"><nlm:affiliation>Radboud University Medical Centre, Department of Paediatric Neurology, Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Radboud University Medical Centre, Department of Paediatric Neurology, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Wolf, Nicole I" sort="Wolf, Nicole I" uniqKey="Wolf N" first="Nicole I" last="Wolf">Nicole I. Wolf</name><affiliation wicri:level="3"><nlm:affiliation>VU University Medical Centre, Department of Child Neurology and Neuroscience Campus Amsterdam, Amsterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>VU University Medical Centre, Department of Child Neurology and Neuroscience Campus Amsterdam, Amsterdam</wicri:regionArea><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="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author><author><name sortKey="De Koning, Tom J" sort="De Koning, Tom J" uniqKey="De Koning T" first="Tom J" last="De Koning">Tom J. De Koning</name><affiliation wicri:level="4"><nlm:affiliation>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></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="2017" type="published">2017</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>Child</term><term>Cohort Studies</term><term>Costs and Cost Analysis</term><term>DNA Mutational Analysis (economics)</term><term>DNA Mutational Analysis (methods)</term><term>Dystonia (diagnosis)</term><term>Dystonia (genetics)</term><term>Female</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Membrane Proteins (genetics)</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Nerve Tissue Proteins (genetics)</term><term>Outcome Assessment (Health Care)</term><term>Young Adult</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Analyse de mutations d'ADN ()</term><term>Analyse de mutations d'ADN (économie)</term><term>Coûts et analyse des coûts</term><term>Dystonie (diagnostic)</term><term>Dystonie (génétique)</term><term>Enfant</term><term>Femelle</term><term>Humains</term><term>Imagerie par résonance magnétique</term><term>Jeune adulte</term><term>Mutation (génétique)</term><term>Mâle</term><term>Protéines de tissu nerveux (génétique)</term><term>Protéines membranaires (génétique)</term><term>Âge de début</term><term>Études de cohortes</term><term>Évaluation de résultat (soins)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Membrane Proteins</term><term>Nerve Tissue Proteins</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Dystonie</term></keywords><keywords scheme="MESH" qualifier="economics" xml:lang="en"><term>DNA Mutational Analysis</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Dystonie</term><term>Mutation</term><term>Protéines de tissu nerveux</term><term>Protéines membranaires</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>DNA Mutational Analysis</term></keywords><keywords scheme="MESH" qualifier="économie" xml:lang="fr"><term>Analyse de mutations d'ADN</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Child</term><term>Cohort Studies</term><term>Costs and Cost Analysis</term><term>Female</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Outcome Assessment (Health Care)</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Analyse de mutations d'ADN</term><term>Coûts et analyse des coûts</term><term>Enfant</term><term>Femelle</term><term>Humains</term><term>Imagerie par résonance magnétique</term><term>Jeune adulte</term><term>Mâle</term><term>Âge de début</term><term>Études de cohortes</term><term>Évaluation de résultat (soins)</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Genetic disorders causing dystonia show great heterogeneity. Recent studies have suggested that next-generation sequencing techniques such as gene panel analysis can be effective in diagnosing heterogeneous conditions. The objective of this study was to investigate whether dystonia patients with a suspected genetic cause could benefit from the use of gene panel analysis.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">28186668</PMID><DateCreated><Year>2017</Year><Month>02</Month><Day>10</Day></DateCreated><DateCompleted><Year>2017</Year><Month>08</Month><Day>25</Day></DateCompleted><DateRevised><Year>2017</Year><Month>11</Month><Day>08</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>32</Volume><Issue>4</Issue><PubDate><Year>2017</Year><Month>04</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>A post hoc study on gene panel analysis for the diagnosis of dystonia.</ArticleTitle><Pagination><MedlinePgn>569-575</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.26937</ELocationID><Abstract><AbstractText Label="BACKGROUND">Genetic disorders causing dystonia show great heterogeneity. Recent studies have suggested that next-generation sequencing techniques such as gene panel analysis can be effective in diagnosing heterogeneous conditions. The objective of this study was to investigate whether dystonia patients with a suspected genetic cause could benefit from the use of gene panel analysis.</AbstractText><AbstractText Label="METHODS">In this post hoc study, we describe gene panel analysis results of 61 dystonia patients (mean age, 31 years; 72% young onset) in our tertiary referral center. The panel covered 94 dystonia-associated genes. As comparison with a historic cohort was not possible because of the rapidly growing list of dystonia genes, we compared the diagnostic workup with and without gene panel analysis in the same patients. The workup without gene panel analysis (control group) included theoretical diagnostic strategies formulated by independent experts in the field, based on detailed case descriptions. The primary outcome measure was diagnostic yield; secondary measures were cost and duration of diagnostic workup.</AbstractText><AbstractText Label="RESULTS">Workup with gene panel analysis led to a confirmed molecular diagnosis in 14.8%, versus 7.4% in the control group (P = 0.096). In the control group, on average 3 genes/case were requested. The mean costs were lower in the gene panel analysis group (€1822/case) than in the controls (€2660/case). The duration of the workup was considerably shorter with gene panel analysis (28 vs 102 days).</AbstractText><AbstractText Label="CONCLUSIONS">Gene panel analysis facilitates molecular diagnosis in complex cases of dystonia, with a good diagnostic yield (14.8%), a quicker diagnostic workup, and lower costs, representing a major improvement for patients and their families. © 2016 International Parkinson and Movement Disorder Society.</AbstractText><CopyrightInformation>© 2017 International Parkinson and Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>van Egmond</LastName><ForeName>Martje E</ForeName><Initials>ME</Initials><AffiliationInfo><Affiliation>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, the Netherlands.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Ommelander Ziekenhuis Groningen, Department of Neurology, Delfzijl and Winschoten, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lugtenberg</LastName><ForeName>Coen H A</ForeName><Initials>CHA</Initials><AffiliationInfo><Affiliation>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brouwer</LastName><ForeName>Oebele F</ForeName><Initials>OF</Initials><AffiliationInfo><Affiliation>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Contarino</LastName><ForeName>Maria Fiorella</ForeName><Initials>MF</Initials><AffiliationInfo><Affiliation>Department of Neurology, Leiden University Medical Centre, Leiden, the Netherlands.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Neurology, Haga Teaching Hospital, The Hague, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fung</LastName><ForeName>Victor S C</ForeName><Initials>VSC</Initials><AffiliationInfo><Affiliation>Movement Disorders Unit, Department of Neurology, Westmead Hospital & Sydney Medical School, University of Sydney, Sydney, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Heiner-Fokkema</LastName><ForeName>M Rebecca</ForeName><Initials>MR</Initials><AffiliationInfo><Affiliation>University of Groningen, University Medical Centre Groningen, Department of Laboratory Medicine, Groningen, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>van Hilten</LastName><ForeName>Jacobus J</ForeName><Initials>JJ</Initials><AffiliationInfo><Affiliation>Department of Neurology, Leiden University Medical Centre, Leiden, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>van der Hout</LastName><ForeName>Annemarie H</ForeName><Initials>AH</Initials><AffiliationInfo><Affiliation>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Peall</LastName><ForeName>Kathryn J</ForeName><Initials>KJ</Initials><AffiliationInfo><Affiliation>MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sinke</LastName><ForeName>Richard J</ForeName><Initials>RJ</Initials><AffiliationInfo><Affiliation>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Roze</LastName><ForeName>Emmanuel</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Département de Neurologie, AP-HP, Hôpital Pitié-Salpêtrière and Sorbonne Universités, Université Pierre and Marie Curie, Institut du Cerveau et de la Moelle épinière, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Verschuuren-Bemelmans</LastName><ForeName>Corien C</ForeName><Initials>CC</Initials><AffiliationInfo><Affiliation>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Willemsen</LastName><ForeName>Michel A</ForeName><Initials>MA</Initials><AffiliationInfo><Affiliation>Radboud University Medical Centre, Department of Paediatric Neurology, Nijmegen, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wolf</LastName><ForeName>Nicole I</ForeName><Initials>NI</Initials><AffiliationInfo><Affiliation>VU University Medical Centre, Department of Child Neurology and Neuroscience Campus Amsterdam, Amsterdam, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tijssen</LastName><ForeName>Marina A</ForeName><Initials>MA</Initials><AffiliationInfo><Affiliation>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>de Koning</LastName><ForeName>Tom J</ForeName><Initials>TJ</Initials><AffiliationInfo><Affiliation>University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, the Netherlands.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, the Netherlands.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>University of Groningen, University Medical Centre Groningen, Department of Paediatrics, Groningen, the Netherlands.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2017</Year><Month>02</Month><Day>10</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D008565">Membrane Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D009419">Nerve Tissue Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C569370">PRRT2 protein, human</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017668" MajorTopicYN="N">Age of Onset</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015331" MajorTopicYN="N">Cohort Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D003365" MajorTopicYN="N">Costs and Cost Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName><QualifierName UI="Q000191" MajorTopicYN="N">economics</QualifierName><QualifierName UI="Q000379" MajorTopicYN="Y">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D004421" MajorTopicYN="N">Dystonia</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008279" MajorTopicYN="N">Magnetic Resonance Imaging</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008565" MajorTopicYN="N">Membrane Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009419" MajorTopicYN="N">Nerve Tissue Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D017063" MajorTopicYN="N">Outcome Assessment (Health Care)</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D055815" MajorTopicYN="N">Young Adult</DescriptorName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="Y">cost</Keyword><Keyword MajorTopicYN="Y">diagnostic yield</Keyword><Keyword MajorTopicYN="Y">dystonia</Keyword><Keyword MajorTopicYN="Y">gene panel analysis</Keyword><Keyword MajorTopicYN="Y">next-generation sequencing</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>07</Month><Day>17</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2016</Year><Month>12</Month><Day>21</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2017</Year><Month>01</Month><Day>08</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2017</Year><Month>2</Month><Day>12</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>8</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2017</Year><Month>2</Month><Day>11</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">28186668</ArticleId><ArticleId IdType="doi">10.1002/mds.26937</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Australie</li><li>France</li><li>Pays-Bas</li><li>Royaume-Uni</li></country><region><li>Groningue (province)</li><li>Gueldre</li><li>Hollande-Méridionale</li><li>Hollande-Septentrionale</li><li>Nouvelle-Galles du Sud</li><li>Île-de-France</li></region><settlement><li>Amsterdam</li><li>Groningue</li><li>Groningue (ville)</li><li>Leyde</li><li>Nimègue</li><li>Paris</li><li>Sydney</li></settlement><orgName><li>Université de Groningue</li><li>Université de Sydney</li></orgName></list><tree><country name="Pays-Bas"><region name="Groningue (province)"><name sortKey="Van Egmond, Martje E" sort="Van Egmond, Martje E" uniqKey="Van Egmond M" first="Martje E" last="Van Egmond">Martje E. Van Egmond</name></region><name sortKey="Brouwer, Oebele F" sort="Brouwer, Oebele F" uniqKey="Brouwer O" first="Oebele F" last="Brouwer">Oebele F. Brouwer</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 Koning, Tom J" sort="De Koning, Tom J" uniqKey="De Koning T" first="Tom J" last="De Koning">Tom J. De Koning</name><name sortKey="Heiner Fokkema, M Rebecca" sort="Heiner Fokkema, M Rebecca" uniqKey="Heiner Fokkema M" first="M Rebecca" last="Heiner-Fokkema">M Rebecca Heiner-Fokkema</name><name sortKey="Lugtenberg, Coen H A" sort="Lugtenberg, Coen H A" uniqKey="Lugtenberg C" first="Coen H A" last="Lugtenberg">Coen H A. Lugtenberg</name><name sortKey="Sinke, Richard J" sort="Sinke, Richard J" uniqKey="Sinke R" first="Richard J" last="Sinke">Richard J. Sinke</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 Der Hout, Annemarie H" sort="Van Der Hout, Annemarie H" uniqKey="Van Der Hout A" first="Annemarie H" last="Van Der Hout">Annemarie H. Van Der Hout</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><name sortKey="Verschuuren Bemelmans, Corien C" sort="Verschuuren Bemelmans, Corien C" uniqKey="Verschuuren Bemelmans C" first="Corien C" last="Verschuuren-Bemelmans">Corien C. Verschuuren-Bemelmans</name><name sortKey="Willemsen, Michel A" sort="Willemsen, Michel A" uniqKey="Willemsen M" first="Michel A" last="Willemsen">Michel A. Willemsen</name><name sortKey="Wolf, Nicole I" sort="Wolf, Nicole I" uniqKey="Wolf N" first="Nicole I" last="Wolf">Nicole I. Wolf</name></country><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Fung, Victor S C" sort="Fung, Victor S C" uniqKey="Fung V" first="Victor S C" last="Fung">Victor S C. Fung</name></region></country><country name="Royaume-Uni"><noRegion><name sortKey="Peall, Kathryn J" sort="Peall, Kathryn J" uniqKey="Peall K" first="Kathryn J" last="Peall">Kathryn J. Peall</name></noRegion></country><country name="France"><region name="Île-de-France"><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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