Distinct neurological disorders with ATP1A3 mutations.
Identifieur interne : 000082 ( France/Analysis ); précédent : 000081; suivant : 000083Distinct neurological disorders with ATP1A3 mutations.
Auteurs : Erin L. Heinzen [États-Unis] ; Alexis Arzimanoglou [France] ; Allison Brashear [États-Unis] ; Steven J. Clapcote [Royaume-Uni] ; Fiorella Gurrieri [Italie] ; David B. Goldstein [États-Unis] ; Sigur Ur H. J Hannesson [Islande] ; Mohamad A. Mikati [États-Unis] ; Brian Neville [Royaume-Uni] ; Sophie Nicole [France] ; Laurie J. Ozelius [États-Unis] ; Hanne Poulsen [Danemark] ; Tsveta Schyns [Belgique] ; Kathleen J. Sweadner [États-Unis] ; Arn Van Den Maagdenberg [Pays-Bas] ; Bente Vilsen [Danemark]Source :
- The Lancet. Neurology [ 1474-4465 ] ; 2014.
English descriptors
- KwdEn :
- Animals, Databases, Bibliographic (statistics & numerical data), Genetic Predisposition to Disease (genetics), Hemiplegia (genetics), Humans, Models, Molecular, Mutation (genetics), Nervous System Diseases (diagnosis), Nervous System Diseases (genetics), Parkinson Disease (genetics), Sodium-Potassium-Exchanging ATPase (genetics), Sodium-Potassium-Exchanging ATPase (metabolism).
- MESH :
- chemical , genetics : Sodium-Potassium-Exchanging ATPase.
- diagnosis : Nervous System Diseases.
- genetics : Genetic Predisposition to Disease, Hemiplegia, Mutation, Nervous System Diseases, Parkinson Disease.
- chemical , metabolism : Sodium-Potassium-Exchanging ATPase.
- statistics & numerical data : Databases, Bibliographic.
- Animals, Humans, Models, Molecular.
Abstract
Genetic research has shown that mutations that modify the protein-coding sequence of ATP1A3, the gene encoding the α3 subunit of Na(+)/K(+)-ATPase, cause both rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood. These discoveries link two clinically distinct neurological diseases to the same gene, however, ATP1A3 mutations are, with one exception, disease-specific. Although the exact mechanism of how these mutations lead to disease is still unknown, much knowledge has been gained about functional consequences of ATP1A3 mutations using a range of in-vitro and animal model systems, and the role of Na(+)/K(+)-ATPases in the brain. Researchers and clinicians are attempting to further characterise neurological manifestations associated with mutations in ATP1A3, and to build on the existing molecular knowledge to understand how specific mutations can lead to different diseases.
DOI: 10.1016/S1474-4422(14)70011-0
PubMed: 24739246
Affiliations:
- Belgique, Danemark, France, Islande, Italie, Pays-Bas, Royaume-Uni, États-Unis
- Angleterre, Auvergne-Rhône-Alpes, Caroline du Nord, Grand Londres, Hollande-Méridionale, Latium, Massachusetts, Rhône-Alpes, Région de Bruxelles-Capitale, Yorkshire-et-Humber, État de New York, Île-de-France
- Bruxelles, Leeds, Leyde, Londres, Lyon, Paris, Rome
- University College de Londres, Université de Leeds
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pubmed:24739246Le document en format XML
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Heinzen</name><affiliation wicri:level="2"><nlm:affiliation>Center for Human Genome Variation, Duke University, School of Medicine, Durham, NC, USA; Department of Medicine, Section of Medical Genetics, Duke University, School of Medicine, Durham, NC, USA. Electronic address: e.heinzen@duke.edu.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Human Genome Variation, Duke University, School of Medicine, Durham, NC, USA; Department of Medicine, Section of Medical Genetics, Duke University, School of Medicine, Durham, NC</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Arzimanoglou, Alexis" sort="Arzimanoglou, Alexis" uniqKey="Arzimanoglou A" first="Alexis" last="Arzimanoglou">Alexis Arzimanoglou</name><affiliation wicri:level="3"><nlm:affiliation>Epilepsy, Sleep and Pediatric Neurophysiology Department, HFME, University Hospitals of Lyon, France; Centre de Recherche en Neurosciences de Lyon, Centre National de la Recherche Scientifique, UMR 5292, INSERM U1028, Lyon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Epilepsy, Sleep and Pediatric Neurophysiology Department, HFME, University Hospitals of Lyon, France; Centre de Recherche en Neurosciences de Lyon, Centre National de la Recherche Scientifique, UMR 5292, INSERM U1028, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Brashear, Allison" sort="Brashear, Allison" uniqKey="Brashear A" first="Allison" last="Brashear">Allison Brashear</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Wake Forest School of Medicine, Winston Salem, NC, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Wake Forest School of Medicine, Winston Salem, NC</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Clapcote, Steven J" sort="Clapcote, Steven J" uniqKey="Clapcote S" first="Steven J" last="Clapcote">Steven J. Clapcote</name><affiliation wicri:level="4"><nlm:affiliation>School of Biomedical Sciences, University of Leeds, Leeds, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>School of Biomedical Sciences, University of Leeds, Leeds</wicri:regionArea><orgName type="university">Université de Leeds</orgName><placeName><settlement type="city">Leeds</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Yorkshire-et-Humber</region></placeName></affiliation></author><author><name sortKey="Gurrieri, Fiorella" sort="Gurrieri, Fiorella" uniqKey="Gurrieri F" first="Fiorella" last="Gurrieri">Fiorella Gurrieri</name><affiliation wicri:level="3"><nlm:affiliation>Istituto di Genetica Medica, Università Cattolica S Cuore, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Genetica Medica, Università Cattolica S Cuore, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Goldstein, David B" sort="Goldstein, David B" uniqKey="Goldstein D" first="David B" last="Goldstein">David B. Goldstein</name><affiliation wicri:level="2"><nlm:affiliation>Center for Human Genome Variation, Duke University, School of Medicine, Durham, NC, USA; Department of Molecular Genetics and Microbiology, Duke University, School of Medicine, Durham, NC, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Human Genome Variation, Duke University, School of Medicine, Durham, NC, USA; Department of Molecular Genetics and Microbiology, Duke University, School of Medicine, Durham, NC</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="J Hannesson, Sigur Ur H" sort="J Hannesson, Sigur Ur H" uniqKey="J Hannesson S" first="Sigur Ur H" last="J Hannesson">Sigur Ur H. J Hannesson</name><affiliation wicri:level="1"><nlm:affiliation>AHC Federation of Europe and AHC Association of Iceland, Reykjavik, Iceland.</nlm:affiliation><country xml:lang="fr">Islande</country><wicri:regionArea>AHC Federation of Europe and AHC Association of Iceland, Reykjavik</wicri:regionArea><wicri:noRegion>Reykjavik</wicri:noRegion></affiliation></author><author><name sortKey="Mikati, Mohamad A" sort="Mikati, Mohamad A" uniqKey="Mikati M" first="Mohamad A" last="Mikati">Mohamad A. Mikati</name><affiliation wicri:level="2"><nlm:affiliation>Division of Pediatric Neurology, Duke University, School of Medicine, Durham, NC, USA; Department of Neurobiology, Duke University, School of Medicine, Durham, NC, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Pediatric Neurology, Duke University, School of Medicine, Durham, NC, USA; Department of Neurobiology, Duke University, School of Medicine, Durham, NC</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Neville, Brian" sort="Neville, Brian" uniqKey="Neville B" first="Brian" last="Neville">Brian Neville</name><affiliation wicri:level="4"><nlm:affiliation>Institute of Child Health, University College London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Child Health, 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="Nicole, Sophie" sort="Nicole, Sophie" uniqKey="Nicole S" first="Sophie" last="Nicole">Sophie Nicole</name><affiliation wicri:level="3"><nlm:affiliation>Institut National de la Santé et de la Recherche Médicale, U975, Centre de Recherche de l'Institut du Cerveau et de la Moelle, Paris, France; Centre National de la Recherche Scientifique, UMR7225, Paris, France; Université Pierre et Marie Curie Paris VI, UMRS975, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale, U975, Centre de Recherche de l'Institut du Cerveau et de la Moelle, Paris, France; Centre National de la Recherche Scientifique, UMR7225, Paris, France; Université Pierre et Marie Curie Paris VI, UMRS975, 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="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J" last="Ozelius">Laurie J. Ozelius</name><affiliation wicri:level="2"><nlm:affiliation>Department of Genetics and Genomic Sciences and Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genetics and Genomic Sciences and Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Poulsen, Hanne" sort="Poulsen, Hanne" uniqKey="Poulsen H" first="Hanne" last="Poulsen">Hanne Poulsen</name><affiliation wicri:level="1"><nlm:affiliation>Danish Research Institute for Translational Neuroscience, Nordic-EMBL Partnership of Molecular Medicine, Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark; Centre for Membrane Pumps in Cells and Disease-PUMPKIN, Danish National Research Foundation, Aarhus, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Danish Research Institute for Translational Neuroscience, Nordic-EMBL Partnership of Molecular Medicine, Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark; Centre for Membrane Pumps in Cells and Disease-PUMPKIN, Danish National Research Foundation, Aarhus</wicri:regionArea><wicri:noRegion>Aarhus</wicri:noRegion></affiliation></author><author><name sortKey="Schyns, Tsveta" sort="Schyns, Tsveta" uniqKey="Schyns T" first="Tsveta" last="Schyns">Tsveta Schyns</name><affiliation wicri:level="3"><nlm:affiliation>European Network for Research on Alternating Hemiplegia (ENRAH), Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>European Network for Research on Alternating Hemiplegia (ENRAH), Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Sweadner, Kathleen J" sort="Sweadner, Kathleen J" uniqKey="Sweadner K" first="Kathleen J" last="Sweadner">Kathleen J. Sweadner</name><affiliation wicri:level="2"><nlm:affiliation>Neurosurgery, Massachusetts General Hospital, Boston, MA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Neurosurgery, Massachusetts General Hospital, Boston, MA</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Van Den Maagdenberg, Arn" sort="Van Den Maagdenberg, Arn" uniqKey="Van Den Maagdenberg A" first="Arn" last="Van Den Maagdenberg">Arn Van Den Maagdenberg</name><affiliation wicri:level="3"><nlm:affiliation>Department of Human Genetics and Department of Neurology, Leiden University Medical Centre, Leiden, Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics and 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="Vilsen, Bente" sort="Vilsen, Bente" uniqKey="Vilsen B" first="Bente" last="Vilsen">Bente Vilsen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Biomedicine, Aarhus University, Aarhus, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Biomedicine, Aarhus University, Aarhus</wicri:regionArea><wicri:noRegion>Aarhus</wicri:noRegion></affiliation></author></analytic><series><title level="j">The Lancet. Neurology</title><idno type="eISSN">1474-4465</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Animals</term><term>Databases, Bibliographic (statistics & numerical data)</term><term>Genetic Predisposition to Disease (genetics)</term><term>Hemiplegia (genetics)</term><term>Humans</term><term>Models, Molecular</term><term>Mutation (genetics)</term><term>Nervous System Diseases (diagnosis)</term><term>Nervous System Diseases (genetics)</term><term>Parkinson Disease (genetics)</term><term>Sodium-Potassium-Exchanging ATPase (genetics)</term><term>Sodium-Potassium-Exchanging ATPase (metabolism)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Sodium-Potassium-Exchanging ATPase</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Nervous System Diseases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Predisposition to Disease</term><term>Hemiplegia</term><term>Mutation</term><term>Nervous System Diseases</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Sodium-Potassium-Exchanging ATPase</term></keywords><keywords scheme="MESH" qualifier="statistics & numerical data" xml:lang="en"><term>Databases, Bibliographic</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Animals</term><term>Humans</term><term>Models, Molecular</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Genetic research has shown that mutations that modify the protein-coding sequence of ATP1A3, the gene encoding the α3 subunit of Na(+)/K(+)-ATPase, cause both rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood. These discoveries link two clinically distinct neurological diseases to the same gene, however, ATP1A3 mutations are, with one exception, disease-specific. Although the exact mechanism of how these mutations lead to disease is still unknown, much knowledge has been gained about functional consequences of ATP1A3 mutations using a range of in-vitro and animal model systems, and the role of Na(+)/K(+)-ATPases in the brain. Researchers and clinicians are attempting to further characterise neurological manifestations associated with mutations in ATP1A3, and to build on the existing molecular knowledge to understand how specific mutations can lead to different diseases.</div></front></TEI><affiliations><list><country><li>Belgique</li><li>Danemark</li><li>France</li><li>Islande</li><li>Italie</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Auvergne-Rhône-Alpes</li><li>Caroline du Nord</li><li>Grand Londres</li><li>Hollande-Méridionale</li><li>Latium</li><li>Massachusetts</li><li>Rhône-Alpes</li><li>Région de Bruxelles-Capitale</li><li>Yorkshire-et-Humber</li><li>État de New York</li><li>Île-de-France</li></region><settlement><li>Bruxelles</li><li>Leeds</li><li>Leyde</li><li>Londres</li><li>Lyon</li><li>Paris</li><li>Rome</li></settlement><orgName><li>University College de Londres</li><li>Université de Leeds</li></orgName></list><tree><country name="États-Unis"><region name="Caroline du Nord"><name sortKey="Heinzen, Erin L" sort="Heinzen, Erin L" uniqKey="Heinzen E" first="Erin L" last="Heinzen">Erin L. Heinzen</name></region><name sortKey="Brashear, Allison" sort="Brashear, Allison" uniqKey="Brashear A" first="Allison" last="Brashear">Allison Brashear</name><name sortKey="Goldstein, David B" sort="Goldstein, David B" uniqKey="Goldstein D" first="David B" last="Goldstein">David B. Goldstein</name><name sortKey="Mikati, Mohamad A" sort="Mikati, Mohamad A" uniqKey="Mikati M" first="Mohamad A" last="Mikati">Mohamad A. Mikati</name><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J" last="Ozelius">Laurie J. Ozelius</name><name sortKey="Sweadner, Kathleen J" sort="Sweadner, Kathleen J" uniqKey="Sweadner K" first="Kathleen J" last="Sweadner">Kathleen J. Sweadner</name></country><country name="France"><region name="Auvergne-Rhône-Alpes"><name sortKey="Arzimanoglou, Alexis" sort="Arzimanoglou, Alexis" uniqKey="Arzimanoglou A" first="Alexis" last="Arzimanoglou">Alexis Arzimanoglou</name></region><name sortKey="Nicole, Sophie" sort="Nicole, Sophie" uniqKey="Nicole S" first="Sophie" last="Nicole">Sophie Nicole</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Clapcote, Steven J" sort="Clapcote, Steven J" uniqKey="Clapcote S" first="Steven J" last="Clapcote">Steven J. Clapcote</name></region><name sortKey="Neville, Brian" sort="Neville, Brian" uniqKey="Neville B" first="Brian" last="Neville">Brian Neville</name></country><country name="Italie"><region name="Latium"><name sortKey="Gurrieri, Fiorella" sort="Gurrieri, Fiorella" uniqKey="Gurrieri F" first="Fiorella" last="Gurrieri">Fiorella Gurrieri</name></region></country><country name="Islande"><noRegion><name sortKey="J Hannesson, Sigur Ur H" sort="J Hannesson, Sigur Ur H" uniqKey="J Hannesson S" first="Sigur Ur H" last="J Hannesson">Sigur Ur H. J Hannesson</name></noRegion></country><country name="Danemark"><noRegion><name sortKey="Poulsen, Hanne" sort="Poulsen, Hanne" uniqKey="Poulsen H" first="Hanne" last="Poulsen">Hanne Poulsen</name></noRegion><name sortKey="Vilsen, Bente" sort="Vilsen, Bente" uniqKey="Vilsen B" first="Bente" last="Vilsen">Bente Vilsen</name></country><country name="Belgique"><region name="Région de Bruxelles-Capitale"><name sortKey="Schyns, Tsveta" sort="Schyns, Tsveta" uniqKey="Schyns T" first="Tsveta" last="Schyns">Tsveta Schyns</name></region></country><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Van Den Maagdenberg, Arn" sort="Van Den Maagdenberg, Arn" uniqKey="Van Den Maagdenberg A" first="Arn" last="Van Den Maagdenberg">Arn Van Den Maagdenberg</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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