Variable phenotype of rapid‐onset dystonia‐parkinsonism
Identifieur interne : 005557 ( Main/Exploration ); précédent : 005556; suivant : 005558Variable phenotype of rapid‐onset dystonia‐parkinsonism
Auteurs : Brashear [États-Unis] ; M. R. Farlow [États-Unis] ; I. J. Butler [États-Unis] ; E. J. Kasarskis [États-Unis] ; W. B. Dobyns [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 1996-03.
English descriptors
- KwdEn :
- Adolescent, Adult, Dopamine, Dopamine (physiology), Dystonia, Dystonia (diagnosis), Dystonia (genetics), Dystonia (physiopathology), Female, Follow-Up Studies, Heterozygote Detection, Homovanillic Acid (cerebrospinal fluid), Homovanillic acid, Humans, Hydroxyindoleacetic Acid (cerebrospinal fluid), Male, Methoxyhydroxyphenylglycol (cerebrospinal fluid), Middle Aged, Neurologic Examination, Parkinson Disease (diagnosis), Parkinson Disease (genetics), Parkinson Disease (physiopathology), Parkinsonism, Pedigree, Phenotype, Rapid‐onset dystonia.
- 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 neurotransmiter levels in these two and other family members suggest involvement of the dopaminergic pathways in RDP.
Url:
DOI: 10.1002/mds.870110206
Affiliations:
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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>Hoboken</pubPlace><date type="published" when="1996-03">1996-03</date><biblScope unit="vol">11</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="151">151</biblScope><biblScope unit="page" to="156">156</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">963C76DE4812453AE991687D96AD1CB828D27E13</idno><idno type="DOI">10.1002/mds.870110206</idno><idno type="ArticleID">MDS870110206</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Dopamine</term><term>Dopamine (physiology)</term><term>Dystonia</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>Homovanillic acid</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>Parkinsonism</term><term>Pedigree</term><term>Phenotype</term><term>Rapid‐onset dystonia</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><langUsage><language ident="en">en</language></langUsage></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 neurotransmiter levels in these two and other family members suggest involvement of the dopaminergic pathways in RDP.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Indiana</li><li>Kentucky</li><li>Minnesota</li><li>Texas</li></region></list><tree><country name="États-Unis"><region name="Indiana"><name sortKey="Brashear" sort="Brashear" uniqKey="Brashear" last="Brashear">Brashear</name></region><name sortKey="Butler, I J" sort="Butler, I J" uniqKey="Butler I" first="I. J." last="Butler">I. J. Butler</name><name sortKey="Dobyns, W B" sort="Dobyns, W B" uniqKey="Dobyns W" first="W. B." last="Dobyns">W. B. Dobyns</name><name sortKey="Farlow, M R" sort="Farlow, M R" uniqKey="Farlow M" first="M. R." last="Farlow">M. R. Farlow</name><name sortKey="Kasarskis, E J" sort="Kasarskis, E J" uniqKey="Kasarskis E" first="E. J." last="Kasarskis">E. J. Kasarskis</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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