MovDisordV3, Main, Exploration, bibRecord, 003D16

Exercise‐induced dystonia as a preceding symptom of familial Parkinson's disease

Identifieur interne : 003D16 ( Main/Exploration ); précédent : 003D15; suivant : 003D17

Exercise‐induced dystonia as a preceding symptom of familial Parkinson's disease

Auteurs : Michiko K. Bruno [États-Unis] ; Bernard Ravina [États-Unis] ; Gaetan Garraux [États-Unis] ; Mark Hallett [États-Unis] ; Louis Ptacek [États-Unis] ; Amanda Singleton [États-Unis] ; Janel Johnson [États-Unis] ; Andrew Singleton [États-Unis] ; Melissa Hanson [États-Unis] ; Elaine Considine [États-Unis] ; Katrina Gwinn-Hardy [États-Unis]

Source :

Movement Disorders [ 0885-3185 ] ; 2004-02.

RBID : ISTEX:FD5396E7A67DAA42D847A60B015C648EA1548E81

Descripteurs français

Pascal (Inist)
- Dystonie, Exercice physique, Maladie familiale, Parkinson maladie, Système nerveux pathologie.

English descriptors

KwdEn :
- Aged, Antiparkinson Agents (therapeutic use), Carbidopa (therapeutic use), DNA Mutational Analysis, Disease Progression, Drug Combinations, Dystonia, Dystonic Disorders (diagnosis), Dystonic Disorders (drug therapy), Dystonic Disorders (genetics), Exercise, Familial disease, Female, Genotype, Humans, Levodopa (therapeutic use), Male, Middle Aged, Nervous system diseases, Neurologic Examination (drug effects), Parkinson disease, Parkinson's disease, Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (genetics), Phenotype, Physical exercise, Semen, Ubiquitin-Protein Ligases (genetics), Videotape Recording, exercise‐induced dystonia, familial, parkin.
MESH :
- chemical , genetics : Ubiquitin-Protein Ligases.
- chemical , therapeutic use : Antiparkinson Agents, Carbidopa, Levodopa.
- diagnosis : Dystonic Disorders, Parkinsonian Disorders.
- drug effects : Neurologic Examination.
- drug therapy : Dystonic Disorders.
- genetics : Dystonic Disorders, Parkinsonian Disorders.
- Aged, DNA Mutational Analysis, Disease Progression, Drug Combinations, Exercise, Female, Genotype, Humans, Male, Middle Aged, Phenotype, Semen, Videotape Recording.

Abstract

Paroxysmal exercise‐induced dystonia can occur with Parkinson's disease (PD), and in rare cases, this can also be the presenting symptom. We report on 2 second cousins (no known consanguinity) who presented with paroxysmal exercise‐induced dystonia who later developed clinical features of PD. Although autosomal recessive inheritance was suggested, and the dystonic features further suggest parkin as a possible cause, ssequencing for parkin mutations was negative and this family may represent a genetic variant of PD. Further genotype–phenotype studies in this and similar families may give clues to pre‐symptomatic symptoms in PD and may reflect a particular phenotype of interest for genetics studies in the future. © 2003 Movement Disorder Society

Url:

https://api.istex.fr/document/FD5396E7A67DAA42D847A60B015C648EA1548E81/fulltext/pdf

DOI: 10.1002/mds.10626

Affiliations:

Le document en format XML

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<author><name sortKey="Ptacek, Louis" sort="Ptacek, Louis" uniqKey="Ptacek L" first="Louis" last="Ptacek">Louis Ptacek</name>
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<author><name sortKey="Gwinn Ardy, Katrina" sort="Gwinn Ardy, Katrina" uniqKey="Gwinn Ardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name>
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<author><name sortKey="Gwinn Ardy, Katrina" sort="Gwinn Ardy, Katrina" uniqKey="Gwinn Ardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name>
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<term>Disease Progression</term>
<term>Drug Combinations</term>
<term>Dystonia</term>
<term>Dystonic Disorders (diagnosis)</term>
<term>Dystonic Disorders (drug therapy)</term>
<term>Dystonic Disorders (genetics)</term>
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<term>Familial disease</term>
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<term>Genotype</term>
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<term>Videotape Recording</term>
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<front><div type="abstract" xml:lang="en">Paroxysmal exercise‐induced dystonia can occur with Parkinson's disease (PD), and in rare cases, this can also be the presenting symptom. We report on 2 second cousins (no known consanguinity) who presented with paroxysmal exercise‐induced dystonia who later developed clinical features of PD. Although autosomal recessive inheritance was suggested, and the dystonic features further suggest parkin as a possible cause, ssequencing for parkin mutations was negative and this family may represent a genetic variant of PD. Further genotype–phenotype studies in this and similar families may give clues to pre‐symptomatic symptoms in PD and may reflect a particular phenotype of interest for genetics studies in the future. © 2003 Movement Disorder Society</div>
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<affiliations><list><country><li>États-Unis</li>
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<tree><country name="États-Unis"><region name="Maryland"><name sortKey="Bruno, Michiko K" sort="Bruno, Michiko K" uniqKey="Bruno M" first="Michiko K." last="Bruno">Michiko K. Bruno</name>
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<name sortKey="Bruno, Michiko K" sort="Bruno, Michiko K" uniqKey="Bruno M" first="Michiko K." last="Bruno">Michiko K. Bruno</name>
<name sortKey="Bruno, Michiko K" sort="Bruno, Michiko K" uniqKey="Bruno M" first="Michiko K." last="Bruno">Michiko K. Bruno</name>
<name sortKey="Considine, Elaine" sort="Considine, Elaine" uniqKey="Considine E" first="Elaine" last="Considine">Elaine Considine</name>
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<name sortKey="Gwinn Ardy, Katrina" sort="Gwinn Ardy, Katrina" uniqKey="Gwinn Ardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name>
<name sortKey="Hallett, Mark" sort="Hallett, Mark" uniqKey="Hallett M" first="Mark" last="Hallett">Mark Hallett</name>
<name sortKey="Hanson, Melissa" sort="Hanson, Melissa" uniqKey="Hanson M" first="Melissa" last="Hanson">Melissa Hanson</name>
<name sortKey="Johnson, Janel" sort="Johnson, Janel" uniqKey="Johnson J" first="Janel" last="Johnson">Janel Johnson</name>
<name sortKey="Ptacek, Louis" sort="Ptacek, Louis" uniqKey="Ptacek L" first="Louis" last="Ptacek">Louis Ptacek</name>
<name sortKey="Ravina, Bernard" sort="Ravina, Bernard" uniqKey="Ravina B" first="Bernard" last="Ravina">Bernard Ravina</name>
<name sortKey="Singleton, Amanda" sort="Singleton, Amanda" uniqKey="Singleton A" first="Amanda" last="Singleton">Amanda Singleton</name>
<name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
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Movement Disorders (revue)

Exercise‐induced dystonia as a preceding symptom of familial Parkinson's disease

Exercise‐induced dystonia as a preceding symptom of familial 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)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.