Possible sporadic rapid-onset dystonia-parkinsonism.
Identifieur interne : 000811 ( Ncbi/Curation ); précédent : 000810; suivant : 000812Possible sporadic rapid-onset dystonia-parkinsonism.
Auteurs : Gurutz Linazasoro [Espagne] ; Bego A Indakoetxea ; Javier Ruiz ; Nadege Van Blercom ; Asier LasaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2002.
English descriptors
- KwdEn :
- 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
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<author><name sortKey="Linazasoro, Gurutz" sort="Linazasoro, Gurutz" uniqKey="Linazasoro G" first="Gurutz" last="Linazasoro">Gurutz Linazasoro</name>
<affiliation wicri:level="1"><nlm:affiliation>Centro de Neurologia y Neurocirugia, Clinica Quirön, San Sebastián, Spain. glinazasoro@terra.es</nlm:affiliation>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Centro de Neurologia y Neurocirugia, Clinica Quirön, San Sebastián</wicri:regionArea>
<wicri:noRegion>San Sebastián</wicri:noRegion>
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<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>
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<author><name sortKey="Van Blercom, Nadege" sort="Van Blercom, Nadege" uniqKey="Van Blercom N" first="Nadege" last="Van Blercom">Nadege Van Blercom</name>
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<author><name sortKey="Lasa, Asier" sort="Lasa, Asier" uniqKey="Lasa A" first="Asier" last="Lasa">Asier Lasa</name>
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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>
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<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>
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<author><name sortKey="Van Blercom, Nadege" sort="Van Blercom, Nadege" uniqKey="Van Blercom N" first="Nadege" last="Van Blercom">Nadege Van Blercom</name>
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<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>
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<term>Dopamine (metabolism)</term>
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<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>
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<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>
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<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonic Disorders</term>
<term>Parkinson Disease</term>
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<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Dystonic Disorders</term>
<term>Parkinson Disease</term>
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<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Female</term>
<term>Humans</term>
<term>Time Factors</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>
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