MovDisordV3, Main, Exploration, bibRecord, 003183

Sporadic rapid‐onset dystonia–parkinsonism presenting as Parkinson's disease

Identifieur interne : 003183 ( Main/Exploration ); précédent : 003182; suivant : 003184

Sporadic rapid‐onset dystonia–parkinsonism presenting as Parkinson's disease

Auteurs : Daan J. Kamphuis [Pays-Bas] ; Hans Koelman [Pays-Bas] ; Andrew Lees (neurologue) [Royaume-Uni] ; Marina A. J. Tijssen [Pays-Bas]

Source :

Movement Disorders [ 0885-3185 ] ; 2006-01.

RBID : ISTEX:B1A3DE432A774F070049A37996C7DAD866B1BDF6

Descripteurs français

Pascal (Inist)
- Dystonie, Mutation, Parkinson maladie, Parkinsonisme, Sporadique, Système nerveux pathologie.

English descriptors

KwdEn :
- Adult, Diagnosis, Differential, Dominance, Cerebral (genetics), Dysarthria (diagnosis), Dysarthria (genetics), Dystonia, Dystonic Disorders (diagnosis), Dystonic Disorders (genetics), Follow-Up Studies, Humans, Male, Meige Syndrome (diagnosis), Meige Syndrome (genetics), Mutation, Mutation, Missense, Nervous system diseases, Neurologic Examination, Parkinson, Parkinson Disease (diagnosis), Parkinson Disease (genetics), Parkinson disease, Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (genetics), Parkinsonism, Phenotype, RDP, Recurrence, Sodium-Potassium-Exchanging ATPase (genetics), Sporadic, dystonia, genetic, mutation.
MESH :
- chemical , genetics : Sodium-Potassium-Exchanging ATPase.
- diagnosis : Dysarthria, Dystonic Disorders, Meige Syndrome, Parkinson Disease, Parkinsonian Disorders.
- genetics : Dominance, Cerebral, Dysarthria, Dystonic Disorders, Meige Syndrome, Parkinson Disease, Parkinsonian Disorders.
- Adult, Diagnosis, Differential, Follow-Up Studies, Humans, Male, Mutation, Missense, Neurologic Examination, Phenotype, Recurrence.

Abstract

We report on a 38‐year‐old patient with rapid‐onset dystonia–parkinsonism (RDP) with a missense mutation in the Na/K‐ATPase α3 subunit (ATP1A3). Asymmetrical parkinsonian symptoms evolved over a year. After a stable episode of another 2.5 years, overnight he developed oromandibular dystonia and more severe parkinsonian symptoms. We conclude that RDP should be considered as a rare cause of levodopa‐unresponsive parkinsonism even if there is no family history and the classic presentation is lacking. © 2005 Movement Disorder Society

Url:

https://api.istex.fr/document/B1A3DE432A774F070049A37996C7DAD866B1BDF6/fulltext/pdf

DOI: 10.1002/mds.20695

Affiliations:

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<term>Dysarthria (genetics)</term>
<term>Dystonia</term>
<term>Dystonic Disorders (diagnosis)</term>
<term>Dystonic Disorders (genetics)</term>
<term>Follow-Up Studies</term>
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<front><div type="abstract" xml:lang="en">We report on a 38‐year‐old patient with rapid‐onset dystonia–parkinsonism (RDP) with a missense mutation in the Na/K‐ATPase α3 subunit (ATP1A3). Asymmetrical parkinsonian symptoms evolved over a year. After a stable episode of another 2.5 years, overnight he developed oromandibular dystonia and more severe parkinsonian symptoms. We conclude that RDP should be considered as a rare cause of levodopa‐unresponsive parkinsonism even if there is no family history and the classic presentation is lacking. © 2005 Movement Disorder Society</div>
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<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name>
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Movement Disorders (revue)

Sporadic rapid‐onset dystonia–parkinsonism presenting as Parkinson's disease

Sporadic rapid‐onset dystonia–parkinsonism presenting as Parkinson's disease

Source :

Descripteurs français

English descriptors

Abstract

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

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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