Possible sporadic rapid‐onset dystonia–parkinsonism
Identifieur interne : 004343 ( Main/Exploration ); précédent : 004342; suivant : 004344Possible sporadic rapid‐onset dystonia–parkinsonism
Auteurs : Gurutz Linazasoro [Espagne] ; Bego A Indakoetxea [Espagne] ; Javier Ruiz [Espagne] ; Nadege Van Blercom [Espagne] ; Asier Lasa [Espagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2002-05.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Adulte.
English descriptors
- KwdEn :
- Adult, Antecedent, Case study, Diagnosis, Dopamine (metabolism), Dystonia, Dystonic Disorders (diagnosis), Dystonic Disorders (etiology), Female, Homovanillic Acid (cerebrospinal fluid), Humans, Onset time, Parkinson Disease (diagnosis), Parkinson Disease (etiology), Parkinsonism, Sporadic, 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. © 2002 Movement Disorder Society.
Url:
DOI: 10.1002/mds.10103
Affiliations:
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Le document en format XML
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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>New York</pubPlace><date type="published" when="2002-05">2002-05</date><biblScope unit="vol">17</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="608">608</biblScope><biblScope unit="page" to="609">609</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">A97090430EA102A5EA6911628A6A1F42F24415D6</idno><idno type="DOI">10.1002/mds.10103</idno><idno type="ArticleID">MDS10103</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Antecedent</term><term>Case study</term><term>Diagnosis</term><term>Dopamine (metabolism)</term><term>Dystonia</term><term>Dystonic Disorders (diagnosis)</term><term>Dystonic Disorders (etiology)</term><term>Female</term><term>Homovanillic Acid (cerebrospinal fluid)</term><term>Humans</term><term>Onset time</term><term>Parkinson Disease (diagnosis)</term><term>Parkinson Disease (etiology)</term><term>Parkinsonism</term><term>Sporadic</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></keywords><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></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Adulte</term><term>Antécédent</term><term>Diagnostic</term><term>Dystonie</term><term>Etude cas</term><term>Femelle</term><term>Parkinsonisme</term><term>Sporadique</term><term>Temps établissement</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Adulte</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><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. © 2002 Movement Disorder Society.</div></front></TEI><affiliations><list><country><li>Espagne</li></country></list><tree><country name="Espagne"><noRegion><name sortKey="Linazasoro, Gurutz" sort="Linazasoro, Gurutz" uniqKey="Linazasoro G" first="Gurutz" last="Linazasoro">Gurutz Linazasoro</name></noRegion><name sortKey="Indakoetxea, Bego A" sort="Indakoetxea, Bego A" uniqKey="Indakoetxea B" first="Bego A" last="Indakoetxea">Bego A Indakoetxea</name><name sortKey="Lasa, Asier" sort="Lasa, Asier" uniqKey="Lasa A" first="Asier" last="Lasa">Asier Lasa</name><name sortKey="Ruiz, Javier" sort="Ruiz, Javier" uniqKey="Ruiz J" first="Javier" last="Ruiz">Javier Ruiz</name><name sortKey="Van Blercom, Nadege" sort="Van Blercom, Nadege" uniqKey="Van Blercom N" first="Nadege" last="Van Blercom">Nadege Van Blercom</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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