MovDisordV3, Ncbi, Curation, bibRecord, 004A74

Variable phenotype of rapid-onset dystonia-parkinsonism.

Identifieur interne : 004A74 ( Ncbi/Curation ); précédent : 004A73; suivant : 004A75

Variable phenotype of rapid-onset dystonia-parkinsonism.

Auteurs : A. Brashear [États-Unis] ; M R Farlow ; I J Butler ; E J Kasarskis ; W B Dobyns

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 1996.

RBID : pubmed:8684384

English descriptors

KwdEn :
- Adolescent, Adult, Dopamine (physiology), Dystonia (diagnosis), Dystonia (genetics), Dystonia (physiopathology), Female, Follow-Up Studies, Heterozygote Detection, Homovanillic Acid (cerebrospinal fluid), Humans, Hydroxyindoleacetic Acid (cerebrospinal fluid), Male, Methoxyhydroxyphenylglycol (cerebrospinal fluid), Middle Aged, Neurologic Examination, Parkinson Disease (diagnosis), Parkinson Disease (genetics), Parkinson Disease (physiopathology), Pedigree, Phenotype.
MESH :
- chemical , cerebrospinal fluid : Homovanillic Acid, Hydroxyindoleacetic Acid, Methoxyhydroxyphenylglycol.
- chemical , physiology : Dopamine.
- diagnosis : Dystonia, Parkinson Disease.
- genetics : Dystonia, Parkinson Disease.
- physiopathology : Dystonia, Parkinson Disease.
- Adolescent, Adult, Female, Follow-Up Studies, Heterozygote Detection, Humans, Male, Middle Aged, Neurologic Examination, Pedigree, Phenotype.

Abstract

Rapid-onset dystonia-parkinsonism (RDP) is an autosomal dominant disorder characterized by the rapid onset of dystonic spasms and parkinsonism over a period of a few hours to weeks after their onset. We have seen two additional members of this previously reported family with RDP who present with a more gradual progression of their disorder over 6-18 months. One of these individuals experienced the rapid progression of symptoms 2 years after an initial stabilization of his condition. The RDP phenotype is variable, and presentation may be gradual in some cases. Cerebrospinal fluid neurotransmitter levels in these two and other family members suggest involvement of the dopaminergic pathways in RDP.

DOI: 10.1002/mds.870110206
PubMed: 8684384

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pubmed:8684384

Le document en format XML

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<author><name sortKey="Brashear, A" sort="Brashear, A" uniqKey="Brashear A" first="A" last="Brashear">A. Brashear</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Indiana University School of Medicine, Indianapolis, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Indiana University School of Medicine, Indianapolis</wicri:regionArea>
<wicri:noRegion>Indianapolis</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Farlow, M R" sort="Farlow, M R" uniqKey="Farlow M" first="M R" last="Farlow">M R Farlow</name>
</author>
<author><name sortKey="Butler, I J" sort="Butler, I J" uniqKey="Butler I" first="I J" last="Butler">I J Butler</name>
</author>
<author><name sortKey="Kasarskis, E J" sort="Kasarskis, E J" uniqKey="Kasarskis E" first="E J" last="Kasarskis">E J Kasarskis</name>
</author>
<author><name sortKey="Dobyns, W B" sort="Dobyns, W B" uniqKey="Dobyns W" first="W B" last="Dobyns">W B Dobyns</name>
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</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="1996">1996</date>
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<idno type="doi">10.1002/mds.870110206</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Variable phenotype of rapid-onset dystonia-parkinsonism.</title>
<author><name sortKey="Brashear, A" sort="Brashear, A" uniqKey="Brashear A" first="A" last="Brashear">A. Brashear</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Indiana University School of Medicine, Indianapolis, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Indiana University School of Medicine, Indianapolis</wicri:regionArea>
<wicri:noRegion>Indianapolis</wicri:noRegion>
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<author><name sortKey="Farlow, M R" sort="Farlow, M R" uniqKey="Farlow M" first="M R" last="Farlow">M R Farlow</name>
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<author><name sortKey="Butler, I J" sort="Butler, I J" uniqKey="Butler I" first="I J" last="Butler">I J Butler</name>
</author>
<author><name sortKey="Kasarskis, E J" sort="Kasarskis, E J" uniqKey="Kasarskis E" first="E J" last="Kasarskis">E J Kasarskis</name>
</author>
<author><name sortKey="Dobyns, W B" sort="Dobyns, W B" uniqKey="Dobyns W" first="W B" last="Dobyns">W B Dobyns</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="1996" type="published">1996</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Dopamine (physiology)</term>
<term>Dystonia (diagnosis)</term>
<term>Dystonia (genetics)</term>
<term>Dystonia (physiopathology)</term>
<term>Female</term>
<term>Follow-Up Studies</term>
<term>Heterozygote Detection</term>
<term>Homovanillic Acid (cerebrospinal fluid)</term>
<term>Humans</term>
<term>Hydroxyindoleacetic Acid (cerebrospinal fluid)</term>
<term>Male</term>
<term>Methoxyhydroxyphenylglycol (cerebrospinal fluid)</term>
<term>Middle Aged</term>
<term>Neurologic Examination</term>
<term>Parkinson Disease (diagnosis)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson Disease (physiopathology)</term>
<term>Pedigree</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="cerebrospinal fluid" xml:lang="en"><term>Homovanillic Acid</term>
<term>Hydroxyindoleacetic Acid</term>
<term>Methoxyhydroxyphenylglycol</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="physiology" xml:lang="en"><term>Dopamine</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonia</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Dystonia</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Female</term>
<term>Follow-Up Studies</term>
<term>Heterozygote Detection</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Neurologic Examination</term>
<term>Pedigree</term>
<term>Phenotype</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Rapid-onset dystonia-parkinsonism (RDP) is an autosomal dominant disorder characterized by the rapid onset of dystonic spasms and parkinsonism over a period of a few hours to weeks after their onset. We have seen two additional members of this previously reported family with RDP who present with a more gradual progression of their disorder over 6-18 months. One of these individuals experienced the rapid progression of symptoms 2 years after an initial stabilization of his condition. The RDP phenotype is variable, and presentation may be gradual in some cases. Cerebrospinal fluid neurotransmitter levels in these two and other family members suggest involvement of the dopaminergic pathways in RDP.</div>
</front>
</TEI>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Variable phenotype of rapid-onset dystonia-parkinsonism.

Variable phenotype of rapid-onset dystonia-parkinsonism.

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

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