Heterogeneity of presentation and outcome in the Irish rapid‐onset dystonia–Parkinsonism kindred
Identifieur interne : 002E19 ( Main/Exploration ); précédent : 002E18; suivant : 002E20Heterogeneity of presentation and outcome in the Irish rapid‐onset dystonia–Parkinsonism kindred
Auteurs : Andrew Mckeon [Irlande (pays)] ; Laurie J. Ozelius [États-Unis] ; Oria Hardiman [Irlande (pays)] ; Matthew J. Greenway [Irlande (pays)] ; Sean J. Pittock [Irlande (pays), États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-07-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- ATP1A3 mutation, Adolescent, Adult, Aged, 80 and over, Dystonia, Dystonia (complications), Dystonia (genetics), Family Health, Female, Follow-Up Studies, Heterogeneity, Humans, Ireland, Irish kindred, Male, Middle Aged, Mutation, Mutation, Missense, Nervous system diseases, Parkinsonian Disorders (complications), Parkinsonian Disorders (genetics), Parkinsonism, Prognosis, Sodium-Potassium-Exchanging ATPase (genetics), rapid‐onset dystonia‐Parkinsonism.
- MESH :
- chemical , genetics : Sodium-Potassium-Exchanging ATPase.
- geographic : Ireland.
- complications : Dystonia, Parkinsonian Disorders.
- genetics : Dystonia, Parkinsonian Disorders.
- Adolescent, Adult, Aged, 80 and over, Family Health, Female, Follow-Up Studies, Humans, Male, Middle Aged, Mutation, Missense.
Abstract
The authors report a 7‐year follow‐up video study and molecular data on the Irish rapid‐onset dystonia–Parkinsonism kindred. All affected patients tested had a missense mutation in the Na+/K+ ‐ATPase α3 subunit (ATP1A3), twice previously identified, suggestive of a mutation hotspot. Clinical presentation, progression, and outcome in this kindred is varied. Some patients remain stable over many years, others worsen, have a fluctuating course, or improve over time. To date there have been no effective treatments for this disorder, although Na+/K+ ATPase may be a future therapeutic target. The broad phenotypic spectrum of RDP described in the text and detailed in the video, should be considered when evaluating patients with dystonia. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21335
Affiliations:
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Le document en format XML
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Ozelius</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Hardiman, Oria" sort="Hardiman, Oria" uniqKey="Hardiman O" first="Oria" last="Hardiman">Oria Hardiman</name><affiliation wicri:level="1"><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Department of Neurology, Beaumont Hospital Dublin and Royal College of Surgeons in Ireland, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Greenway, Matthew J" sort="Greenway, Matthew J" uniqKey="Greenway M" first="Matthew J." last="Greenway">Matthew J. 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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-07-15">2007-07-15</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1325">1325</biblScope><biblScope unit="page" to="1327">1327</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">601A046A4AA3314B9082AC9EBCE619F980BF828B</idno><idno type="DOI">10.1002/mds.21335</idno><idno type="ArticleID">MDS21335</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>ATP1A3 mutation</term><term>Adolescent</term><term>Adult</term><term>Aged, 80 and over</term><term>Dystonia</term><term>Dystonia (complications)</term><term>Dystonia (genetics)</term><term>Family Health</term><term>Female</term><term>Follow-Up Studies</term><term>Heterogeneity</term><term>Humans</term><term>Ireland</term><term>Irish kindred</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Mutation, Missense</term><term>Nervous system diseases</term><term>Parkinsonian Disorders (complications)</term><term>Parkinsonian Disorders (genetics)</term><term>Parkinsonism</term><term>Prognosis</term><term>Sodium-Potassium-Exchanging ATPase (genetics)</term><term>rapid‐onset dystonia‐Parkinsonism</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Sodium-Potassium-Exchanging ATPase</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Ireland</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Dystonia</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged, 80 and over</term><term>Family Health</term><term>Female</term><term>Follow-Up Studies</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation, Missense</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Hétérogénéité</term><term>Mutation</term><term>Parkinsonisme</term><term>Pronostic</term><term>Système nerveux pathologie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The authors report a 7‐year follow‐up video study and molecular data on the Irish rapid‐onset dystonia–Parkinsonism kindred. All affected patients tested had a missense mutation in the Na+/K+ ‐ATPase α3 subunit (ATP1A3), twice previously identified, suggestive of a mutation hotspot. Clinical presentation, progression, and outcome in this kindred is varied. Some patients remain stable over many years, others worsen, have a fluctuating course, or improve over time. To date there have been no effective treatments for this disorder, although Na+/K+ ATPase may be a future therapeutic target. The broad phenotypic spectrum of RDP described in the text and detailed in the video, should be considered when evaluating patients with dystonia. © 2007 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Irlande (pays)</li><li>États-Unis</li></country><region><li>Minnesota</li><li>État de New York</li></region></list><tree><country name="Irlande (pays)"><noRegion><name sortKey="Mckeon, Andrew" sort="Mckeon, Andrew" uniqKey="Mckeon A" first="Andrew" last="Mckeon">Andrew Mckeon</name></noRegion><name sortKey="Greenway, Matthew J" sort="Greenway, Matthew J" uniqKey="Greenway M" first="Matthew J." last="Greenway">Matthew J. Greenway</name><name sortKey="Hardiman, Oria" sort="Hardiman, Oria" uniqKey="Hardiman O" first="Oria" last="Hardiman">Oria Hardiman</name><name sortKey="Pittock, Sean J" sort="Pittock, Sean J" uniqKey="Pittock S" first="Sean J." last="Pittock">Sean J. Pittock</name></country><country name="États-Unis"><region name="État de New York"><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name></region><name sortKey="Pittock, Sean J" sort="Pittock, Sean J" uniqKey="Pittock S" first="Sean J." last="Pittock">Sean J. Pittock</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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