MovDisordV3, Main, Exploration, bibRecord, 004116

Dopa‐responsive dystonia presenting with prominent isolated bilateral resting leg tremor: Evidence for a role of parkin?

Identifieur interne : 004116 ( Main/Exploration ); précédent : 004115; suivant : 004117

Dopa‐responsive dystonia presenting with prominent isolated bilateral resting leg tremor: Evidence for a role of parkin?

Auteurs : Ronald B. Postuma [États-Unis] ; Yoshiaki Furukawa [Canada, États-Unis] ; Ekaterina Rogaeva [Canada, États-Unis] ; Peter H. St. George-Hyslop [Canada, États-Unis] ; Matt J. Farrer [Canada, États-Unis] ; Anthony E. Lang [États-Unis]

Source :

Movement Disorders [ 0885-3185 ] ; 2003-09.

RBID : ISTEX:DF90C100AC951C0054105B5235E7F6E7F2E14804

Descripteurs français

Pascal (Inist)
- Adulte jeune, Bilatéral, Chimiothérapie, Diagnostic, Dystonie, Déterminisme génétique, Etude cas, Femelle, Forme clinique, Lévodopa, Membre inférieur, Parkine, Polymorphisme, Tremblement repos.

English descriptors

KwdEn :
- Bilateral, Case study, Chemotherapy, Clinical form, Diagnosis, Dystonia, Female, GTP cyclohydrolase 1, Genetic determinism, Levodopa, Lower limb, Parkin, Polymorphism, Resting tremor, Young adult, dopa‐responsive dystonia, parkin, parkinsonism, resting leg tremor.

Abstract

We report on a GTP cyclohydrolase 1 mutation‐confirmed case of dopa‐responsive dystonia who presented with an isolated parkinsonian rest tremor starting at the age of 15 years. There was no dystonia or other features of parkinsonism. Sequencing of the parkin gene demonstrated polymorphisms in a compound heterozygous state. The spectrum of unusual clinical presentations of dopa‐responsive dystonia is discussed. © 2003 Movement Disorder Society

Url:

https://api.istex.fr/document/DF90C100AC951C0054105B5235E7F6E7F2E14804/fulltext/pdf

DOI: 10.1002/mds.10478

Affiliations:

Le document en format XML

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Movement Disorders (revue)

Dopa‐responsive dystonia presenting with prominent isolated bilateral resting leg tremor: Evidence for a role of parkin?

Dopa‐responsive dystonia presenting with prominent isolated bilateral resting leg tremor: Evidence for a role of parkin?

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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