Sporadic rapid-onset dystonia-parkinsonism presenting as Parkinson's disease.
Identifieur interne : 001436 ( Ncbi/Checkpoint ); précédent : 001435; suivant : 001437Sporadic rapid-onset dystonia-parkinsonism presenting as Parkinson's disease.
Auteurs : Daan J. Kamphuis [Pays-Bas] ; Hans Koelman ; Andrew J. Lees ; Marina A J. TijssenSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
English descriptors
- KwdEn :
- Adult, Diagnosis, Differential, Dominance, Cerebral (genetics), Dysarthria (diagnosis), Dysarthria (genetics), Dystonic Disorders (diagnosis), Dystonic Disorders (genetics), Follow-Up Studies, Humans, Male, Meige Syndrome (diagnosis), Meige Syndrome (genetics), Mutation, Missense, Neurologic Examination, Parkinson Disease (diagnosis), Parkinson Disease (genetics), Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (genetics), Phenotype, Recurrence, Sodium-Potassium-Exchanging ATPase (genetics).
- MESH :
- chemical , genetics : Sodium-Potassium-Exchanging ATPase.
- diagnosis : Dysarthria, Dystonic Disorders, Meige Syndrome, Parkinson Disease, Parkinsonian Disorders.
- genetics : Dominance, Cerebral, Dysarthria, Dystonic Disorders, Meige Syndrome, Parkinson Disease, Parkinsonian Disorders.
- Adult, Diagnosis, Differential, Follow-Up Studies, Humans, Male, Mutation, Missense, Neurologic Examination, Phenotype, Recurrence.
Abstract
We report on a 38-year-old patient with rapid-onset dystonia-parkinsonism (RDP) with a missense mutation in the Na/K-ATPase alpha3 subunit (ATP1A3). Asymmetrical parkinsonian symptoms evolved over a year. After a stable episode of another 2.5 years, overnight he developed oromandibular dystonia and more severe parkinsonian symptoms. We conclude that RDP should be considered as a rare cause of levodopa-unresponsive parkinsonism even if there is no family history and the classic presentation is lacking.
DOI: 10.1002/mds.20695
PubMed: 16161139
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Sporadic rapid-onset dystonia-parkinsonism presenting as Parkinson's disease.</title><author><name sortKey="Kamphuis, Daan J" sort="Kamphuis, Daan J" uniqKey="Kamphuis D" first="Daan J" last="Kamphuis">Daan J. Kamphuis</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Reinier de Graaf Groep, Delft, The Netherlands. kamphuis@rdgg.nl</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, Reinier de Graaf Groep, Delft</wicri:regionArea><wicri:noRegion>Delft</wicri:noRegion></affiliation></author><author><name sortKey="Koelman, Hans" sort="Koelman, Hans" uniqKey="Koelman H" first="Hans" last="Koelman">Hans Koelman</name></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name></author><author><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A J" last="Tijssen">Marina A J. Tijssen</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2006">2006</date><idno type="doi">10.1002/mds.20695</idno><idno type="RBID">pubmed:16161139</idno><idno type="pmid">16161139</idno><idno type="wicri:Area/PubMed/Corpus">002E76</idno><idno type="wicri:Area/PubMed/Curation">002E76</idno><idno type="wicri:Area/PubMed/Checkpoint">002A89</idno><idno type="wicri:Area/Ncbi/Merge">001436</idno><idno type="wicri:Area/Ncbi/Curation">001436</idno><idno type="wicri:Area/Ncbi/Checkpoint">001436</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Sporadic rapid-onset dystonia-parkinsonism presenting as Parkinson's disease.</title><author><name sortKey="Kamphuis, Daan J" sort="Kamphuis, Daan J" uniqKey="Kamphuis D" first="Daan J" last="Kamphuis">Daan J. Kamphuis</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Reinier de Graaf Groep, Delft, The Netherlands. kamphuis@rdgg.nl</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, Reinier de Graaf Groep, Delft</wicri:regionArea><wicri:noRegion>Delft</wicri:noRegion></affiliation></author><author><name sortKey="Koelman, Hans" sort="Koelman, Hans" uniqKey="Koelman H" first="Hans" last="Koelman">Hans Koelman</name></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name></author><author><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A J" last="Tijssen">Marina A J. Tijssen</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Diagnosis, Differential</term><term>Dominance, Cerebral (genetics)</term><term>Dysarthria (diagnosis)</term><term>Dysarthria (genetics)</term><term>Dystonic Disorders (diagnosis)</term><term>Dystonic Disorders (genetics)</term><term>Follow-Up Studies</term><term>Humans</term><term>Male</term><term>Meige Syndrome (diagnosis)</term><term>Meige Syndrome (genetics)</term><term>Mutation, Missense</term><term>Neurologic Examination</term><term>Parkinson Disease (diagnosis)</term><term>Parkinson Disease (genetics)</term><term>Parkinsonian Disorders (diagnosis)</term><term>Parkinsonian Disorders (genetics)</term><term>Phenotype</term><term>Recurrence</term><term>Sodium-Potassium-Exchanging ATPase (genetics)</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>Dysarthria</term><term>Dystonic Disorders</term><term>Meige Syndrome</term><term>Parkinson Disease</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dominance, Cerebral</term><term>Dysarthria</term><term>Dystonic Disorders</term><term>Meige Syndrome</term><term>Parkinson Disease</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Diagnosis, Differential</term><term>Follow-Up Studies</term><term>Humans</term><term>Male</term><term>Mutation, Missense</term><term>Neurologic Examination</term><term>Phenotype</term><term>Recurrence</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report on a 38-year-old patient with rapid-onset dystonia-parkinsonism (RDP) with a missense mutation in the Na/K-ATPase alpha3 subunit (ATP1A3). Asymmetrical parkinsonian symptoms evolved over a year. After a stable episode of another 2.5 years, overnight he developed oromandibular dystonia and more severe parkinsonian symptoms. We conclude that RDP should be considered as a rare cause of levodopa-unresponsive parkinsonism even if there is no family history and the classic presentation is lacking.</div></front></TEI><affiliations><list><country><li>Pays-Bas</li></country></list><tree><noCountry><name sortKey="Koelman, Hans" sort="Koelman, Hans" uniqKey="Koelman H" first="Hans" last="Koelman">Hans Koelman</name><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A J" last="Tijssen">Marina A J. Tijssen</name></noCountry><country name="Pays-Bas"><noRegion><name sortKey="Kamphuis, Daan J" sort="Kamphuis, Daan J" uniqKey="Kamphuis D" first="Daan J" last="Kamphuis">Daan J. Kamphuis</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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