MovDisordV3, PubMed, Corpus, bibRecord, 003A40

Possible sporadic rapid-onset dystonia-parkinsonism.

Identifieur interne : 003A40 ( PubMed/Corpus ); précédent : 003A39; suivant : 003A41

Possible sporadic rapid-onset dystonia-parkinsonism.

Auteurs : Gurutz Linazasoro ; Bego A Indakoetxea ; Javier Ruiz ; Nadege Van Blercom ; Asier Lasa

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2002.

RBID : pubmed:12112218

English descriptors

KwdEn :
- Adult, Dopamine (metabolism), Dystonic Disorders (diagnosis), Dystonic Disorders (etiology), Female, Homovanillic Acid (cerebrospinal fluid), Humans, Parkinson Disease (diagnosis), Parkinson Disease (etiology), Time Factors, Tomography, Emission-Computed, Single-Photon.
MESH :
- chemical , cerebrospinal fluid : Homovanillic Acid.
- chemical , metabolism : Dopamine.
- diagnosis : Dystonic Disorders, Parkinson Disease.
- etiology : Dystonic Disorders, Parkinson Disease.
- Adult, Female, Humans, Time Factors, Tomography, Emission-Computed, Single-Photon.

Abstract

Rapid-onset dystonia-parkinsonism is a hereditary disease characterized by a combination of dystonic and parkinsonian symptoms. Bulbar musculature is predominantly affected by dystonia. The onset is usually abrupt and the progression of the disease over years is minimal or absent. Homovanillic acid levels in cerebrospinal fluid can be diminished, suggesting that the pathogenesis of the disease is related to some dysfunction in dopaminergic neurotransmission. However, no abnormality has been found in positron emission tomography studies and levodopa does not improve symptoms. The genetic abnormality is not known, but evidence for linkage to markers on chromosome 19q13 has been reported. We describe the case of a woman with a clinical picture highly suggestive of rapid onset dystonia-parkinsonism (RDP) and no family history of the disease.

DOI: 10.1002/mds.10103
PubMed: 12112218

Links to Exploration step

pubmed:12112218

Le document en format XML

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<author><name sortKey="Linazasoro, Gurutz" sort="Linazasoro, Gurutz" uniqKey="Linazasoro G" first="Gurutz" last="Linazasoro">Gurutz Linazasoro</name>
<affiliation><nlm:affiliation>Centro de Neurologia y Neurocirugia, Clinica Quirön, San Sebastián, Spain. glinazasoro@terra.es</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Indakoetxea, Bego A" sort="Indakoetxea, Bego A" uniqKey="Indakoetxea B" first="Bego A" last="Indakoetxea">Bego A Indakoetxea</name>
</author>
<author><name sortKey="Ruiz, Javier" sort="Ruiz, Javier" uniqKey="Ruiz J" first="Javier" last="Ruiz">Javier Ruiz</name>
</author>
<author><name sortKey="Van Blercom, Nadege" sort="Van Blercom, Nadege" uniqKey="Van Blercom N" first="Nadege" last="Van Blercom">Nadege Van Blercom</name>
</author>
<author><name sortKey="Lasa, Asier" sort="Lasa, Asier" uniqKey="Lasa A" first="Asier" last="Lasa">Asier Lasa</name>
</author>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Possible sporadic rapid-onset dystonia-parkinsonism.</title>
<author><name sortKey="Linazasoro, Gurutz" sort="Linazasoro, Gurutz" uniqKey="Linazasoro G" first="Gurutz" last="Linazasoro">Gurutz Linazasoro</name>
<affiliation><nlm:affiliation>Centro de Neurologia y Neurocirugia, Clinica Quirön, San Sebastián, Spain. glinazasoro@terra.es</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Indakoetxea, Bego A" sort="Indakoetxea, Bego A" uniqKey="Indakoetxea B" first="Bego A" last="Indakoetxea">Bego A Indakoetxea</name>
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<author><name sortKey="Ruiz, Javier" sort="Ruiz, Javier" uniqKey="Ruiz J" first="Javier" last="Ruiz">Javier Ruiz</name>
</author>
<author><name sortKey="Van Blercom, Nadege" sort="Van Blercom, Nadege" uniqKey="Van Blercom N" first="Nadege" last="Van Blercom">Nadege Van Blercom</name>
</author>
<author><name sortKey="Lasa, Asier" sort="Lasa, Asier" uniqKey="Lasa A" first="Asier" last="Lasa">Asier Lasa</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2002" type="published">2002</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Dopamine (metabolism)</term>
<term>Dystonic Disorders (diagnosis)</term>
<term>Dystonic Disorders (etiology)</term>
<term>Female</term>
<term>Homovanillic Acid (cerebrospinal fluid)</term>
<term>Humans</term>
<term>Parkinson Disease (diagnosis)</term>
<term>Parkinson Disease (etiology)</term>
<term>Time Factors</term>
<term>Tomography, Emission-Computed, Single-Photon</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="cerebrospinal fluid" xml:lang="en"><term>Homovanillic Acid</term>
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<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Dopamine</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonic Disorders</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Dystonic Disorders</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Female</term>
<term>Humans</term>
<term>Time Factors</term>
<term>Tomography, Emission-Computed, Single-Photon</term>
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<front><div type="abstract" xml:lang="en">Rapid-onset dystonia-parkinsonism is a hereditary disease characterized by a combination of dystonic and parkinsonian symptoms. Bulbar musculature is predominantly affected by dystonia. The onset is usually abrupt and the progression of the disease over years is minimal or absent. Homovanillic acid levels in cerebrospinal fluid can be diminished, suggesting that the pathogenesis of the disease is related to some dysfunction in dopaminergic neurotransmission. However, no abnormality has been found in positron emission tomography studies and levodopa does not improve symptoms. The genetic abnormality is not known, but evidence for linkage to markers on chromosome 19q13 has been reported. We describe the case of a woman with a clinical picture highly suggestive of rapid onset dystonia-parkinsonism (RDP) and no family history of the disease.</div>
</front>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">12112218</PMID>
<DateCreated><Year>2002</Year>
<Month>07</Month>
<Day>11</Day>
</DateCreated>
<DateCompleted><Year>2002</Year>
<Month>09</Month>
<Day>16</Day>
</DateCompleted>
<DateRevised><Year>2013</Year>
<Month>11</Month>
<Day>21</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>17</Volume>
<Issue>3</Issue>
<PubDate><Year>2002</Year>
<Month>May</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Possible sporadic rapid-onset dystonia-parkinsonism.</ArticleTitle>
<Pagination><MedlinePgn>608-9</MedlinePgn>
</Pagination>
<Abstract><AbstractText>Rapid-onset dystonia-parkinsonism is a hereditary disease characterized by a combination of dystonic and parkinsonian symptoms. Bulbar musculature is predominantly affected by dystonia. The onset is usually abrupt and the progression of the disease over years is minimal or absent. Homovanillic acid levels in cerebrospinal fluid can be diminished, suggesting that the pathogenesis of the disease is related to some dysfunction in dopaminergic neurotransmission. However, no abnormality has been found in positron emission tomography studies and levodopa does not improve symptoms. The genetic abnormality is not known, but evidence for linkage to markers on chromosome 19q13 has been reported. We describe the case of a woman with a clinical picture highly suggestive of rapid onset dystonia-parkinsonism (RDP) and no family history of the disease.</AbstractText>
<CopyrightInformation>Copyright 2002 Movement Disorder Society.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Linazasoro</LastName>
<ForeName>Gurutz</ForeName>
<Initials>G</Initials>
<AffiliationInfo><Affiliation>Centro de Neurologia y Neurocirugia, Clinica Quirön, San Sebastián, Spain. glinazasoro@terra.es</Affiliation>
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<Author ValidYN="Y"><LastName>Indakoetxea</LastName>
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<Author ValidYN="Y"><LastName>Ruiz</LastName>
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<Author ValidYN="Y"><LastName>Van Blercom</LastName>
<ForeName>Nadege</ForeName>
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<Author ValidYN="Y"><LastName>Lasa</LastName>
<ForeName>Asier</ForeName>
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<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType>
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<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
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<ISSNLinking>0885-3185</ISSNLinking>
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<ChemicalList><Chemical><RegistryNumber>VTD58H1Z2X</RegistryNumber>
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<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D004298">Dopamine</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020821">Dystonic Disorders</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000209">etiology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006719">Homovanillic Acid</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000134">cerebrospinal fluid</QualifierName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000209">etiology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D013997">Time Factors</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D015899">Tomography, Emission-Computed, Single-Photon</DescriptorName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2002</Year>
<Month>7</Month>
<Day>12</Day>
<Hour>10</Hour>
<Minute>0</Minute>
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<PubMedPubDate PubStatus="medline"><Year>2002</Year>
<Month>9</Month>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Possible sporadic rapid-onset dystonia-parkinsonism.

Possible sporadic rapid-onset dystonia-parkinsonism.

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki