Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.
Identifieur interne : 000030 ( France/Analysis ); précédent : 000029; suivant : 000031Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.
Auteurs : Connie Marras [Canada] ; Anthony Lang [Canada] ; Bart P. Van De Warrenburg [Pays-Bas] ; Carolyn M. Sue [Australie] ; Sarah J. Tabrizi [Royaume-Uni] ; Lars Bertram [Allemagne] ; Saadet Mercimek-Mahmutoglu [Canada] ; Darius Ebrahimi-Fakhari [Allemagne] ; Thomas T. Warner [Royaume-Uni] ; Alexandra Durr [France] ; Birgit Assmann ; Katja Lohmann [Allemagne] ; Vladimir Kostic [Serbie] ; Christine Klein [Allemagne]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2016.
English descriptors
- KwdEn :
- MESH :
- classification : Movement Disorders.
- genetics : Movement Disorders.
- standards : Societies, Medical.
- Humans.
Abstract
The system of assigning locus symbols to specify chromosomal regions that are associated with a familial disorder has a number of problems when used as a reference list of genetically determined disorders,including (I) erroneously assigned loci, (II) duplicated loci, (III) missing symbols or loci, (IV) unconfirmed loci and genes, (V) a combination of causative genes and risk factor genes in the same list, and (VI) discordance between phenotype and list assignment. In this article, we report on the recommendations of the International Parkinson and Movement Disorder Society Task Force for Nomenclature of Genetic Movement Disorders and present a system for naming genetically determined movement disorders that addresses these problems. We demonstrate how the system would be applied to currently known genetically determined parkinsonism, dystonia, dominantly inherited ataxia, spastic paraparesis, chorea, paroxysmal movement disorders, neurodegeneration with brain iron accumulation, and primary familial brain calcifications. This system provides a resource for clinicians and researchers that, unlike the previous system, can be considered an accurate and criterion-based list of confirmed genetically determined movement disorders at the time it was last updated.
DOI: 10.1002/mds.26527
PubMed: 27079681
Affiliations:
- Allemagne, Australie, Canada, France, Pays-Bas, Royaume-Uni, Serbie
- Angleterre, Bade-Wurtemberg, District de Karlsruhe, Grand Londres, Gueldre, Ontario, Île-de-France
- Heidelberg, Londres, Nimègue, Paris, Toronto
- University College de Londres, Université de Toronto
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pubmed:27079681Le document en format XML
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Safra Program in Parkinson's Disease, University of Toronto, Toronto, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Toronto Western Hospital Morton, Gloria Shulman Movement Disorders Centre, and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto, Toronto</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Lang, Anthony" sort="Lang, Anthony" uniqKey="Lang A" first="Anthony" last="Lang">Anthony Lang</name><affiliation wicri:level="4"><nlm:affiliation>Toronto Western Hospital Morton, Gloria Shulman Movement Disorders Centre, and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto, Toronto, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Toronto Western Hospital Morton, Gloria Shulman Movement Disorders Centre, and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto, Toronto</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</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"><nlm:affiliation>Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Centre, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Sue, Carolyn M" sort="Sue, Carolyn M" uniqKey="Sue C" first="Carolyn M" last="Sue">Carolyn M. Sue</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, St. Leonards, New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Neurology, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, St. Leonards, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Tabrizi, Sarah J" sort="Tabrizi, Sarah J" uniqKey="Tabrizi S" first="Sarah J" last="Tabrizi">Sarah J. Tabrizi</name><affiliation wicri:level="4"><nlm:affiliation>Department of Neurodegenerative Disease, Institute of Neurology, University College London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurodegenerative Disease, Institute of Neurology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Bertram, Lars" sort="Bertram, Lars" uniqKey="Bertram L" first="Lars" last="Bertram">Lars Bertram</name><affiliation wicri:level="1"><nlm:affiliation>Lübeck Interdisciplinary Platform for Genome Analytics (LIGA), Institutes of Neurogenetics and Integrative and Experimental Genomics, University of Lübeck, Lübeck, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Lübeck Interdisciplinary Platform for Genome Analytics (LIGA), Institutes of Neurogenetics and Integrative and Experimental Genomics, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Mercimek Mahmutoglu, Saadet" sort="Mercimek Mahmutoglu, Saadet" uniqKey="Mercimek Mahmutoglu S" first="Saadet" last="Mercimek-Mahmutoglu">Saadet Mercimek-Mahmutoglu</name><affiliation wicri:level="4"><nlm:affiliation>Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Ebrahimi Fakhari, Darius" sort="Ebrahimi Fakhari, Darius" uniqKey="Ebrahimi Fakhari D" first="Darius" last="Ebrahimi-Fakhari">Darius Ebrahimi-Fakhari</name><affiliation wicri:level="3"><nlm:affiliation>Division of Pediatric Neurology and Inborn Errors of Metabolism, Department of Pediatrics, Heidelberg University Hospital, Ruprecht-Karls-University Heidelberg, Heidelberg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Division of Pediatric Neurology and Inborn Errors of Metabolism, Department of Pediatrics, Heidelberg University Hospital, Ruprecht-Karls-University Heidelberg, Heidelberg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Heidelberg</settlement></placeName></affiliation></author><author><name sortKey="Warner, Thomas T" sort="Warner, Thomas T" uniqKey="Warner T" first="Thomas T" last="Warner">Thomas T. Warner</name><affiliation wicri:level="3"><nlm:affiliation>Reta Lila Weston Institute of Neurological Studies, Department of Molecular Neurosciences, UCL Institute of Neurology, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Institute of Neurological Studies, Department of Molecular Neurosciences, UCL Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name><affiliation wicri:level="3"><nlm:affiliation>Sorbonne Université, UPMC, Inserm and Hôpital de la Salpêtrière, Département de Génétique et Cytogénétique, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Sorbonne Université, UPMC, Inserm and Hôpital de la Salpêtrière, Département de Génétique et Cytogénétique, 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="Assmann, Birgit" sort="Assmann, Birgit" uniqKey="Assmann B" first="Birgit" last="Assmann">Birgit Assmann</name><affiliation><nlm:affiliation>Division of Pediatric Neurology, Department of Pediatrics I, Heidelberg University Hospital, Ruprecht-Karls-University Heidelberg.</nlm:affiliation><wicri:noCountry code="subField">Ruprecht-Karls-University Heidelberg</wicri:noCountry></affiliation></author><author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Kostic, Vladimir" sort="Kostic, Vladimir" uniqKey="Kostic V" first="Vladimir" last="Kostic">Vladimir Kostic</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Neurology, School of Medicine University of Belgrade, Belgrade, Serbia.</nlm:affiliation><country xml:lang="fr">Serbie</country><wicri:regionArea>Institute of Neurology, School of Medicine University of Belgrade, Belgrade</wicri:regionArea><wicri:noRegion>Belgrade</wicri:noRegion></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Neurogenetics, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></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="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Humans</term><term>Movement Disorders (classification)</term><term>Movement Disorders (genetics)</term><term>Societies, Medical (standards)</term></keywords><keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Movement Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Movement Disorders</term></keywords><keywords scheme="MESH" qualifier="standards" xml:lang="en"><term>Societies, Medical</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The system of assigning locus symbols to specify chromosomal regions that are associated with a familial disorder has a number of problems when used as a reference list of genetically determined disorders,including (I) erroneously assigned loci, (II) duplicated loci, (III) missing symbols or loci, (IV) unconfirmed loci and genes, (V) a combination of causative genes and risk factor genes in the same list, and (VI) discordance between phenotype and list assignment. In this article, we report on the recommendations of the International Parkinson and Movement Disorder Society Task Force for Nomenclature of Genetic Movement Disorders and present a system for naming genetically determined movement disorders that addresses these problems. We demonstrate how the system would be applied to currently known genetically determined parkinsonism, dystonia, dominantly inherited ataxia, spastic paraparesis, chorea, paroxysmal movement disorders, neurodegeneration with brain iron accumulation, and primary familial brain calcifications. This system provides a resource for clinicians and researchers that, unlike the previous system, can be considered an accurate and criterion-based list of confirmed genetically determined movement disorders at the time it was last updated.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Canada</li><li>France</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>Serbie</li></country><region><li>Angleterre</li><li>Bade-Wurtemberg</li><li>District de Karlsruhe</li><li>Grand Londres</li><li>Gueldre</li><li>Ontario</li><li>Île-de-France</li></region><settlement><li>Heidelberg</li><li>Londres</li><li>Nimègue</li><li>Paris</li><li>Toronto</li></settlement><orgName><li>University College de Londres</li><li>Université de Toronto</li></orgName></list><tree><noCountry><name sortKey="Assmann, Birgit" sort="Assmann, Birgit" uniqKey="Assmann B" first="Birgit" last="Assmann">Birgit Assmann</name></noCountry><country name="Canada"><region name="Ontario"><name sortKey="Marras, Connie" sort="Marras, Connie" uniqKey="Marras C" first="Connie" last="Marras">Connie Marras</name></region><name sortKey="Lang, Anthony" sort="Lang, Anthony" uniqKey="Lang A" first="Anthony" last="Lang">Anthony Lang</name><name sortKey="Mercimek Mahmutoglu, Saadet" sort="Mercimek Mahmutoglu, Saadet" uniqKey="Mercimek Mahmutoglu S" first="Saadet" last="Mercimek-Mahmutoglu">Saadet Mercimek-Mahmutoglu</name></country><country name="Pays-Bas"><region name="Gueldre"><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></region></country><country name="Australie"><noRegion><name sortKey="Sue, Carolyn M" sort="Sue, Carolyn M" uniqKey="Sue C" first="Carolyn M" last="Sue">Carolyn M. Sue</name></noRegion></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Tabrizi, Sarah J" sort="Tabrizi, Sarah J" uniqKey="Tabrizi S" first="Sarah J" last="Tabrizi">Sarah J. Tabrizi</name></region><name sortKey="Warner, Thomas T" sort="Warner, Thomas T" uniqKey="Warner T" first="Thomas T" last="Warner">Thomas T. Warner</name></country><country name="Allemagne"><noRegion><name sortKey="Bertram, Lars" sort="Bertram, Lars" uniqKey="Bertram L" first="Lars" last="Bertram">Lars Bertram</name></noRegion><name sortKey="Ebrahimi Fakhari, Darius" sort="Ebrahimi Fakhari, Darius" uniqKey="Ebrahimi Fakhari D" first="Darius" last="Ebrahimi-Fakhari">Darius Ebrahimi-Fakhari</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name></country><country name="France"><region name="Île-de-France"><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name></region></country><country name="Serbie"><noRegion><name sortKey="Kostic, Vladimir" sort="Kostic, Vladimir" uniqKey="Kostic V" first="Vladimir" last="Kostic">Vladimir Kostic</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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