MovDisordV3, Main, Exploration, bibRecord, 004446

Generalised dystonia with an abnormal magnetic resonance imaging signal in the basal ganglia: A case of adult‐onset GM1 gangliosidosis

Identifieur interne : 004446 ( Main/Exploration ); précédent : 004445; suivant : 004447

Generalised dystonia with an abnormal magnetic resonance imaging signal in the basal ganglia: A case of adult‐onset GM1 gangliosidosis

Auteurs : Jaume Campdelacreu [Espagne] ; Esteban Mu Oz [Espagne] ; Beatriz G Mez [Espagne] ; Teresa Pujol [Espagne] ; Amparo Chabás [Espagne] ; Eduardo Tolosa [Espagne]

Source :

Movement Disorders [ 0885-3185 ] ; 2002-09.

RBID : ISTEX:754D778FAB15A41C342A2CB9296AD441B51D14E5

Descripteurs français

Pascal (Inist)
- Adulte, Age apparition, Dystonie, Enregistrement vidéo, Enzymopathie, Etude cas, Gangliosidose GM1, Généralisé, Imagerie RMN, Noyau gris central, Signe inaugural.
Wicri :
- topic : Adulte.

English descriptors

KwdEn :
- Adult, Age of onset, Basal Ganglia (pathology), Basal ganglion, Case study, Dystonia, Dystonia (diagnosis), Dystonia (etiology), Enzymopathy, Female, GM1 gangliosidosis, Gangliosidosis, GM1 (complications), Gangliosidosis, GM1 (pathology), Generalized, Humans, Inaugural sign, Magnetic Resonance Imaging, Middle Aged, Nuclear magnetic resonance imaging, Speech Disorders (diagnosis), Speech Disorders (etiology), Video recording.
MESH :
- complications : Gangliosidosis, GM1.
- diagnosis : Dystonia, Speech Disorders.
- etiology : Dystonia, Speech Disorders.
- pathology : Basal Ganglia, Gangliosidosis, GM1.
- Female, Humans, Magnetic Resonance Imaging, Middle Aged.

Abstract

We describe a 46‐year‐old woman with adult‐onset generalised dystonia and a severe speech disorder with an abnormal magnetic resonance imaging signal in the basal ganglia. A storage disease study demonstrated the presence of a GM1 gangliosidosis. This rare condition should be investigated in cases of generalised dystonia, especially in those cases with other features suggesting symptomatic dystonia. © 2002 Movement Disorder Society

Url:

https://api.istex.fr/document/754D778FAB15A41C342A2CB9296AD441B51D14E5/fulltext/pdf

DOI: 10.1002/mds.10247

Affiliations:

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Generalised dystonia with an abnormal magnetic resonance imaging signal in the basal ganglia: A case of adult‐onset GM1 gangliosidosis</title>
<author><name sortKey="Campdelacreu, Jaume" sort="Campdelacreu, Jaume" uniqKey="Campdelacreu J" first="Jaume" last="Campdelacreu">Jaume Campdelacreu</name>
</author>
<author><name sortKey="Mu Oz, Esteban" sort="Mu Oz, Esteban" uniqKey="Mu Oz E" first="Esteban" last="Mu Oz">Esteban Mu Oz</name>
</author>
<author><name sortKey="G Mez, Beatriz" sort="G Mez, Beatriz" uniqKey="G Mez B" first="Beatriz" last="G Mez">Beatriz G Mez</name>
</author>
<author><name sortKey="Pujol, Teresa" sort="Pujol, Teresa" uniqKey="Pujol T" first="Teresa" last="Pujol">Teresa Pujol</name>
</author>
<author><name sortKey="Chabas, Amparo" sort="Chabas, Amparo" uniqKey="Chabas A" first="Amparo" last="Chabás">Amparo Chabás</name>
</author>
<author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:754D778FAB15A41C342A2CB9296AD441B51D14E5</idno>
<date when="2002" year="2002">2002</date>
<idno type="doi">10.1002/mds.10247</idno>
<idno type="url">https://api.istex.fr/document/754D778FAB15A41C342A2CB9296AD441B51D14E5/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">001474</idno>
<idno type="wicri:Area/Istex/Curation">001474</idno>
<idno type="wicri:Area/Istex/Checkpoint">002D37</idno>
<idno type="wicri:doubleKey">0885-3185:2002:Campdelacreu J:generalised:dystonia:with</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:12360569</idno>
<idno type="wicri:Area/PubMed/Corpus">003932</idno>
<idno type="wicri:Area/PubMed/Curation">003932</idno>
<idno type="wicri:Area/PubMed/Checkpoint">003A75</idno>
<idno type="wicri:Area/Ncbi/Merge">000919</idno>
<idno type="wicri:Area/Ncbi/Curation">000919</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000919</idno>
<idno type="wicri:doubleKey">0885-3185:2002:Campdelacreu J:generalised:dystonia:with</idno>
<idno type="wicri:Area/Main/Merge">006451</idno>
<idno type="wicri:source">INIST</idno>
<idno type="RBID">Pascal:02-0582588</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">002643</idno>
<idno type="wicri:Area/PascalFrancis/Curation">000678</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">002744</idno>
<idno type="wicri:doubleKey">0885-3185:2002:Campdelacreu J:generalised:dystonia:with</idno>
<idno type="wicri:Area/Main/Merge">006783</idno>
<idno type="wicri:Area/Main/Curation">004446</idno>
<idno type="wicri:Area/Main/Exploration">004446</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Generalised dystonia with an abnormal magnetic resonance imaging signal in the basal ganglia: A case of adult‐onset GM1 gangliosidosis</title>
<author><name sortKey="Campdelacreu, Jaume" sort="Campdelacreu, Jaume" uniqKey="Campdelacreu J" first="Jaume" last="Campdelacreu">Jaume Campdelacreu</name>
<affiliation wicri:level="3"><country xml:lang="fr">Espagne</country>
<wicri:regionArea>Movement Disorder Unit, Neurology Service, ICMSN, Hospital Clínic de Barcelona, Barcelona</wicri:regionArea>
<placeName><settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mu Oz, Esteban" sort="Mu Oz, Esteban" uniqKey="Mu Oz E" first="Esteban" last="Mu Oz">Esteban Mu Oz</name>
<affiliation wicri:level="3"><country xml:lang="fr">Espagne</country>
<wicri:regionArea>Movement Disorder Unit, Neurology Service, ICMSN, Hospital Clínic de Barcelona, Barcelona</wicri:regionArea>
<placeName><settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="G Mez, Beatriz" sort="G Mez, Beatriz" uniqKey="G Mez B" first="Beatriz" last="G Mez">Beatriz G Mez</name>
<affiliation wicri:level="3"><country xml:lang="fr">Espagne</country>
<wicri:regionArea>Radiology Service, CDI, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona</wicri:regionArea>
<placeName><settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pujol, Teresa" sort="Pujol, Teresa" uniqKey="Pujol T" first="Teresa" last="Pujol">Teresa Pujol</name>
<affiliation wicri:level="3"><country xml:lang="fr">Espagne</country>
<wicri:regionArea>Radiology Service, CDI, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona</wicri:regionArea>
<placeName><settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chabas, Amparo" sort="Chabas, Amparo" uniqKey="Chabas A" first="Amparo" last="Chabás">Amparo Chabás</name>
<affiliation wicri:level="3"><country xml:lang="fr">Espagne</country>
<wicri:regionArea>Institut de Bioquímica Clínica, Corporació Sanitària Clínic, Barcelona</wicri:regionArea>
<placeName><settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name>
<affiliation wicri:level="3"><country xml:lang="fr">Espagne</country>
<wicri:regionArea>Movement Disorder Unit, Neurology Service, ICMSN, Hospital Clínic de Barcelona, Barcelona</wicri:regionArea>
<placeName><settlement type="city">Barcelone</settlement>
<region nuts="2" type="region">Catalogne</region>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="sub">Official Journal of the Movement Disorder Society</title>
<title level="j" type="abbrev">Mov. 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>New York</pubPlace>
<date type="published" when="2002-09">2002-09</date>
<biblScope unit="vol">17</biblScope>
<biblScope unit="issue">5</biblScope>
<biblScope unit="page" from="1095">1095</biblScope>
<biblScope unit="page" to="1097">1097</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">754D778FAB15A41C342A2CB9296AD441B51D14E5</idno>
<idno type="DOI">10.1002/mds.10247</idno>
<idno type="ArticleID">MDS10247</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Age of onset</term>
<term>Basal Ganglia (pathology)</term>
<term>Basal ganglion</term>
<term>Case study</term>
<term>Dystonia</term>
<term>Dystonia (diagnosis)</term>
<term>Dystonia (etiology)</term>
<term>Enzymopathy</term>
<term>Female</term>
<term>GM1 gangliosidosis</term>
<term>Gangliosidosis, GM1 (complications)</term>
<term>Gangliosidosis, GM1 (pathology)</term>
<term>Generalized</term>
<term>Humans</term>
<term>Inaugural sign</term>
<term>Magnetic Resonance Imaging</term>
<term>Middle Aged</term>
<term>Nuclear magnetic resonance imaging</term>
<term>Speech Disorders (diagnosis)</term>
<term>Speech Disorders (etiology)</term>
<term>Video recording</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Gangliosidosis, GM1</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonia</term>
<term>Speech Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Dystonia</term>
<term>Speech Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Basal Ganglia</term>
<term>Gangliosidosis, GM1</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Female</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Middle Aged</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Adulte</term>
<term>Age apparition</term>
<term>Dystonie</term>
<term>Enregistrement vidéo</term>
<term>Enzymopathie</term>
<term>Etude cas</term>
<term>Gangliosidose GM1</term>
<term>Généralisé</term>
<term>Imagerie RMN</term>
<term>Noyau gris central</term>
<term>Signe inaugural</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Adulte</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">We describe a 46‐year‐old woman with adult‐onset generalised dystonia and a severe speech disorder with an abnormal magnetic resonance imaging signal in the basal ganglia. A storage disease study demonstrated the presence of a GM1 gangliosidosis. This rare condition should be investigated in cases of generalised dystonia, especially in those cases with other features suggesting symptomatic dystonia. © 2002 Movement Disorder Society</div>
</front>
</TEI>
<affiliations><list><country><li>Espagne</li>
</country>
<region><li>Catalogne</li>
</region>
<settlement><li>Barcelone</li>
</settlement>
</list>
<tree><country name="Espagne"><region name="Catalogne"><name sortKey="Campdelacreu, Jaume" sort="Campdelacreu, Jaume" uniqKey="Campdelacreu J" first="Jaume" last="Campdelacreu">Jaume Campdelacreu</name>
</region>
<name sortKey="Chabas, Amparo" sort="Chabas, Amparo" uniqKey="Chabas A" first="Amparo" last="Chabás">Amparo Chabás</name>
<name sortKey="G Mez, Beatriz" sort="G Mez, Beatriz" uniqKey="G Mez B" first="Beatriz" last="G Mez">Beatriz G Mez</name>
<name sortKey="Mu Oz, Esteban" sort="Mu Oz, Esteban" uniqKey="Mu Oz E" first="Esteban" last="Mu Oz">Esteban Mu Oz</name>
<name sortKey="Pujol, Teresa" sort="Pujol, Teresa" uniqKey="Pujol T" first="Teresa" last="Pujol">Teresa Pujol</name>
<name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 004446 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 004446 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     ISTEX:754D778FAB15A41C342A2CB9296AD441B51D14E5
   |texte=   Generalised dystonia with an abnormal magnetic resonance imaging signal in the basal ganglia: A case of adult‐onset GM1 gangliosidosis
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

Movement Disorders (revue)

Generalised dystonia with an abnormal magnetic resonance imaging signal in the basal ganglia: A case of adult‐onset GM1 gangliosidosis

Generalised dystonia with an abnormal magnetic resonance imaging signal in the basal ganglia: A case of adult‐onset GM1 gangliosidosis

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.