Phenotypic variability of DYT1‐PTD: Does the clinical spectrum include psychogenic dystonia?
Identifieur interne : 004350 ( Main/Exploration ); précédent : 004349; suivant : 004351Phenotypic variability of DYT1‐PTD: Does the clinical spectrum include psychogenic dystonia?
Auteurs : Anna Rita Bentivoglio [Italie] ; Mario Loi [Italie] ; Enza M. Valente [Italie] ; Tamara Ialongo [Italie] ; Pietro Tonali [Italie] ; Alberto Albanese [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2002-09.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Adult, Carrier Proteins (genetics), Case study, Chromosomes, Human, Pair 9 (genetics), DYT1, Dystonia, Dystonic Disorders (complications), Dystonic Disorders (genetics), Family study, Female, Genetic Variation, Genetic variability, Human, Humans, Male, Middle Aged, Molecular Chaperones, Pedigree, Phenotype, Primary, Psychogenic, Symptomatology, Torsion, Video recording, Videotape Recording, dystonia, primary torsion dystonia, psychogenic movement disorder.
- MESH :
- chemical , genetics : Carrier Proteins.
- complications : Dystonic Disorders.
- genetics : Chromosomes, Human, Pair 9, Dystonic Disorders.
- Adult, Female, Genetic Variation, Humans, Male, Middle Aged, Molecular Chaperones, Pedigree, Phenotype, Videotape Recording.
Abstract
Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous group of movement disorders, usually inherited in an autosomal dominant manner with reduced (30–40%) penetrance. The DYT1 gene on chromosome 9q34 is responsible for most cases of early limb‐onset PTD. DYT1‐PTD clinical spectrum is broad, as the disease may present with several degrees of body involvement and severity. We identified an Italian family with 4 members definitely affected by PTD, genetically diagnosed as carriers of the GAG mutation at DYT1 gene. Phenotype was homogeneous when considering the presentation at onset (limb involvement and early onset), the disease progression was variable; in the subjects of the last generation, the disease progressed to a severe, generalized PTD; in the remaining 2 subjects, dystonia presented with writer's cramp or upper body segmental dystonia of mild severity. One family member, carrier of the GAG mutation on DYT1 gene and mother of the most severely affected individual, presented with a clinically established psychogenic movement disorder resembling dystonia initially diagnosed as a severe generalized PTD. Psychogenic movement disorders are among the most controversial and challenging diseases to diagnose, in particular when the affected individual belongs to a family with an inherited movement disorder. © 2002 Movement Disorder Society
Url:
DOI: 10.1002/mds.10236
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 001837
- to stream Istex, to step Curation: 001837
- to stream Istex, to step Checkpoint: 002C41
- to stream PubMed, to step Corpus: 003942
- to stream PubMed, to step Curation: 003942
- to stream PubMed, to step Checkpoint: 003986
- to stream Ncbi, to step Merge: 000909
- to stream Ncbi, to step Curation: 000909
- to stream Ncbi, to step Checkpoint: 000909
- to stream Main, to step Merge: 006355
- to stream PascalFrancis, to step Corpus: 002610
- to stream PascalFrancis, to step Curation: 000711
- to stream PascalFrancis, to step Checkpoint: 002657
- to stream Main, to step Merge: 006696
- to stream Main, to step Curation: 004350
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Phenotypic variability of DYT1‐PTD: Does the clinical spectrum include psychogenic dystonia?</title><author><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name></author><author><name sortKey="Loi, Mario" sort="Loi, Mario" uniqKey="Loi M" first="Mario" last="Loi">Mario Loi</name></author><author><name sortKey="Valente, Enza M" sort="Valente, Enza M" uniqKey="Valente E" first="Enza M." last="Valente">Enza M. Valente</name></author><author><name sortKey="Ialongo, Tamara" sort="Ialongo, Tamara" uniqKey="Ialongo T" first="Tamara" last="Ialongo">Tamara Ialongo</name></author><author><name sortKey="Tonali, Pietro" sort="Tonali, Pietro" uniqKey="Tonali P" first="Pietro" last="Tonali">Pietro Tonali</name></author><author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:AD041C3E8E17C62DFEAB0D14532003E4702CAE50</idno><date when="2002" year="2002">2002</date><idno type="doi">10.1002/mds.10236</idno><idno type="url">https://api.istex.fr/document/AD041C3E8E17C62DFEAB0D14532003E4702CAE50/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001837</idno><idno type="wicri:Area/Istex/Curation">001837</idno><idno type="wicri:Area/Istex/Checkpoint">002C41</idno><idno type="wicri:doubleKey">0885-3185:2002:Bentivoglio A:phenotypic:variability:of</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:12360559</idno><idno type="wicri:Area/PubMed/Corpus">003942</idno><idno type="wicri:Area/PubMed/Curation">003942</idno><idno type="wicri:Area/PubMed/Checkpoint">003986</idno><idno type="wicri:Area/Ncbi/Merge">000909</idno><idno type="wicri:Area/Ncbi/Curation">000909</idno><idno type="wicri:Area/Ncbi/Checkpoint">000909</idno><idno type="wicri:doubleKey">0885-3185:2002:Bentivoglio A:phenotypic:variability:of</idno><idno type="wicri:Area/Main/Merge">006355</idno><idno type="wicri:source">INIST</idno><idno type="RBID">Pascal:02-0584901</idno><idno type="wicri:Area/PascalFrancis/Corpus">002610</idno><idno type="wicri:Area/PascalFrancis/Curation">000711</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">002657</idno><idno type="wicri:doubleKey">0885-3185:2002:Bentivoglio A:phenotypic:variability:of</idno><idno type="wicri:Area/Main/Merge">006696</idno><idno type="wicri:Area/Main/Curation">004350</idno><idno type="wicri:Area/Main/Exploration">004350</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Phenotypic variability of DYT1‐PTD: Does the clinical spectrum include psychogenic dystonia?</title><author><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Neurologia, Università Cattolica, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Loi, Mario" sort="Loi, Mario" uniqKey="Loi M" first="Mario" last="Loi">Mario Loi</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Neuropsichiatria, Ospedale G. Brotzu, Cagliari</wicri:regionArea><wicri:noRegion>Cagliari</wicri:noRegion></affiliation></author><author><name sortKey="Valente, Enza M" sort="Valente, Enza M" uniqKey="Valente E" first="Enza M." last="Valente">Enza M. Valente</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto CSS Mendel, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Ialongo, Tamara" sort="Ialongo, Tamara" uniqKey="Ialongo T" first="Tamara" last="Ialongo">Tamara Ialongo</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Neurologia, Università Cattolica, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Tonali, Pietro" sort="Tonali, Pietro" uniqKey="Tonali P" first="Pietro" last="Tonali">Pietro Tonali</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Neurologia, Università Cattolica, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto CSS S. Giovanni Rotondo, Foggia</wicri:regionArea><wicri:noRegion>Foggia</wicri:noRegion></affiliation></author><author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Neurologia, Università Cattolica, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto Nazionale Neurologico Carlo Besta, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</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="1058">1058</biblScope><biblScope unit="page" to="1063">1063</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">AD041C3E8E17C62DFEAB0D14532003E4702CAE50</idno><idno type="DOI">10.1002/mds.10236</idno><idno type="ArticleID">MDS10236</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Carrier Proteins (genetics)</term><term>Case study</term><term>Chromosomes, Human, Pair 9 (genetics)</term><term>DYT1</term><term>Dystonia</term><term>Dystonic Disorders (complications)</term><term>Dystonic Disorders (genetics)</term><term>Family study</term><term>Female</term><term>Genetic Variation</term><term>Genetic variability</term><term>Human</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Molecular Chaperones</term><term>Pedigree</term><term>Phenotype</term><term>Primary</term><term>Psychogenic</term><term>Symptomatology</term><term>Torsion</term><term>Video recording</term><term>Videotape Recording</term><term>dystonia</term><term>primary torsion dystonia</term><term>psychogenic movement disorder</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Carrier Proteins</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 9</term><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Female</term><term>Genetic Variation</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Molecular Chaperones</term><term>Pedigree</term><term>Phenotype</term><term>Videotape Recording</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Enregistrement vidéo</term><term>Etude cas</term><term>Etude familiale</term><term>Gène DYT1</term><term>Homme</term><term>Phénotype</term><term>Primaire</term><term>Psychogène</term><term>Symptomatologie</term><term>Torsion</term><term>Variabilité génétique</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous group of movement disorders, usually inherited in an autosomal dominant manner with reduced (30–40%) penetrance. The DYT1 gene on chromosome 9q34 is responsible for most cases of early limb‐onset PTD. DYT1‐PTD clinical spectrum is broad, as the disease may present with several degrees of body involvement and severity. We identified an Italian family with 4 members definitely affected by PTD, genetically diagnosed as carriers of the GAG mutation at DYT1 gene. Phenotype was homogeneous when considering the presentation at onset (limb involvement and early onset), the disease progression was variable; in the subjects of the last generation, the disease progressed to a severe, generalized PTD; in the remaining 2 subjects, dystonia presented with writer's cramp or upper body segmental dystonia of mild severity. One family member, carrier of the GAG mutation on DYT1 gene and mother of the most severely affected individual, presented with a clinically established psychogenic movement disorder resembling dystonia initially diagnosed as a severe generalized PTD. Psychogenic movement disorders are among the most controversial and challenging diseases to diagnose, in particular when the affected individual belongs to a family with an inherited movement disorder. © 2002 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Italie</li></country><region><li>Latium</li><li>Lombardie</li></region><settlement><li>Milan</li><li>Rome</li></settlement></list><tree><country name="Italie"><region name="Latium"><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name></region><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name><name sortKey="Ialongo, Tamara" sort="Ialongo, Tamara" uniqKey="Ialongo T" first="Tamara" last="Ialongo">Tamara Ialongo</name><name sortKey="Loi, Mario" sort="Loi, Mario" uniqKey="Loi M" first="Mario" last="Loi">Mario Loi</name><name sortKey="Tonali, Pietro" sort="Tonali, Pietro" uniqKey="Tonali P" first="Pietro" last="Tonali">Pietro Tonali</name><name sortKey="Tonali, Pietro" sort="Tonali, Pietro" uniqKey="Tonali P" first="Pietro" last="Tonali">Pietro Tonali</name><name sortKey="Valente, Enza M" sort="Valente, Enza M" uniqKey="Valente E" first="Enza M." last="Valente">Enza M. Valente</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 004350 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 004350 | 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:AD041C3E8E17C62DFEAB0D14532003E4702CAE50
|texte= Phenotypic variability of DYT1‐PTD: Does the clinical spectrum include psychogenic dystonia?
}}
| This area was generated with Dilib version V0.6.23. |  |