Clinical differentiation of genetically proven benign hereditary chorea and myoclonus‐dystonia
Identifieur interne : 002F55 ( Main/Exploration ); précédent : 002F54; suivant : 002F56Clinical differentiation of genetically proven benign hereditary chorea and myoclonus‐dystonia
Auteurs : Friedrich Asmus [Allemagne] ; Anita Devlin [Royaume-Uni] ; Marita Munz [Allemagne] ; Alexander Zimprich [Autriche] ; Thomas Gasser [Allemagne] ; Patrick F. Chinnery [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-10-31.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adolescent, Arginine (genetics), Child, Chorea, Chorea (diagnosis), Chorea (genetics), DNA Mutational Analysis, Dystonia, Dystonic Disorders (complications), Dystonic Disorders (diagnosis), Dystonic Disorders (genetics), Exons (genetics), Family Health, Female, Genotype, Glycine (genetics), Humans, Male, Mutation, Myoclonus, Myoclonus (etiology), Myoclonus (genetics), Nervous system diseases, Nuclear Proteins (genetics), SGCE, Sarcoglycans (genetics), TITF‐1, Transcription Factors (genetics), Valine (genetics), benign hereditary chorea, epsilon‐sarcoglycan, myoclonus‐dystonia.
- MESH :
- chemical , genetics : Arginine, Glycine, Nuclear Proteins, Sarcoglycans, Transcription Factors, Valine.
- complications : Dystonic Disorders.
- diagnosis : Chorea, Dystonic Disorders.
- etiology : Myoclonus.
- genetics : Chorea, Dystonic Disorders, Exons, Myoclonus.
- Adolescent, Child, DNA Mutational Analysis, Family Health, Female, Genotype, Humans, Male, Mutation.
Abstract
Because of clinical similarities, benign hereditary chorea and myoclonus‐dystonia (DYT11) might be confused. No systematic comparisons of genetically proven cases with thyroid transcription factor‐1 (TITF‐1) and ε‐sarcoglycan (SGCE) mutations have been performed to date. Three index patients and one index patients' daughter underwent genetic analysis of the TITF‐1 and the SGCE gene. The movement disorders of all patients were assessed by video review. A new splicing mutation (376‐2A>C) of the TITF‐1 gene was detected in a mother and her daughter. Two additional patients carried a de novo SGCE nonsense mutation in exon 3 (R97X) and a novel SGCE missense mutation in exon 6 (G227V). Both TITF‐1 mutation carriers presented with infancy‐onset, nonprogressive chorea, which responded to alcohol intake. In addition, dystonia of the neck and trunk as well as fleeting jerky movements of the distal limbs could be observed. The mutually exclusive appearance of lightning‐like myoclonic jerks triggered by action in SGCE mutation carriers and of continuous chorea of all limbs in TITF‐1 mutation carriers phenotypically discriminated both genetic disorders. TITF‐1 mutations should be considered in choreiform movement disorders with onset in infancy even in the presence of dystonia and myoclonic jerks. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21692
Affiliations:
- Allemagne, Autriche, Royaume-Uni
- Bade-Wurtemberg, District de Tübingen, Vienne (Autriche)
- Tübingen, Vienne (Autriche)
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 001F77
- to stream Istex, to step Curation: 001F77
- to stream Istex, to step Checkpoint: 001A63
- to stream PubMed, to step Corpus: 002560
- to stream PubMed, to step Curation: 002560
- to stream PubMed, to step Checkpoint: 002912
- to stream Ncbi, to step Merge: 001D99
- to stream Ncbi, to step Curation: 001D99
- to stream Ncbi, to step Checkpoint: 001D99
- to stream Main, to step Merge: 003E77
- to stream PascalFrancis, to step Corpus: 001472
- to stream PascalFrancis, to step Curation: 001847
- to stream PascalFrancis, to step Checkpoint: 001749
- to stream Main, to step Merge: 004339
- to stream Main, to step Curation: 002F55
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinical differentiation of genetically proven benign hereditary chorea and myoclonus‐dystonia</title>
<author><name sortKey="Asmus, Friedrich" sort="Asmus, Friedrich" uniqKey="Asmus F" first="Friedrich" last="Asmus">Friedrich Asmus</name>
</author>
<author><name sortKey="Devlin, Anita" sort="Devlin, Anita" uniqKey="Devlin A" first="Anita" last="Devlin">Anita Devlin</name>
</author>
<author><name sortKey="Munz, Marita" sort="Munz, Marita" uniqKey="Munz M" first="Marita" last="Munz">Marita Munz</name>
</author>
<author><name sortKey="Zimprich, Alexander" sort="Zimprich, Alexander" uniqKey="Zimprich A" first="Alexander" last="Zimprich">Alexander Zimprich</name>
</author>
<author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name>
</author>
<author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F." last="Chinnery">Patrick F. Chinnery</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:1B02DADB943FC3665D69B378206A8C324D6830EB</idno>
<date when="2007" year="2007">2007</date>
<idno type="doi">10.1002/mds.21692</idno>
<idno type="url">https://api.istex.fr/document/1B02DADB943FC3665D69B378206A8C324D6830EB/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">001F77</idno>
<idno type="wicri:Area/Istex/Curation">001F77</idno>
<idno type="wicri:Area/Istex/Checkpoint">001A63</idno>
<idno type="wicri:doubleKey">0885-3185:2007:Asmus F:clinical:differentiation:of</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:17702043</idno>
<idno type="wicri:Area/PubMed/Corpus">002560</idno>
<idno type="wicri:Area/PubMed/Curation">002560</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002912</idno>
<idno type="wicri:Area/Ncbi/Merge">001D99</idno>
<idno type="wicri:Area/Ncbi/Curation">001D99</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">001D99</idno>
<idno type="wicri:doubleKey">0885-3185:2007:Asmus F:clinical:differentiation:of</idno>
<idno type="wicri:Area/Main/Merge">003E77</idno>
<idno type="wicri:source">INIST</idno>
<idno type="RBID">Pascal:08-0069703</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001472</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001847</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">001749</idno>
<idno type="wicri:doubleKey">0885-3185:2007:Asmus F:clinical:differentiation:of</idno>
<idno type="wicri:Area/Main/Merge">004339</idno>
<idno type="wicri:Area/Main/Curation">002F55</idno>
<idno type="wicri:Area/Main/Exploration">002F55</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Clinical differentiation of genetically proven benign hereditary chorea and myoclonus‐dystonia</title>
<author><name sortKey="Asmus, Friedrich" sort="Asmus, Friedrich" uniqKey="Asmus F" first="Friedrich" last="Asmus">Friedrich Asmus</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurodegenerative Diseases, Hertie‐Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen, Tuebingen</wicri:regionArea>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Tübingen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Devlin, Anita" sort="Devlin, Anita" uniqKey="Devlin A" first="Anita" last="Devlin">Anita Devlin</name>
<affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Paediatric Neurology, Newcastle General Hospital, Newcastle upon Tyne</wicri:regionArea>
<wicri:noRegion>Newcastle upon Tyne</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Munz, Marita" sort="Munz, Marita" uniqKey="Munz M" first="Marita" last="Munz">Marita Munz</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurodegenerative Diseases, Hertie‐Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen, Tuebingen</wicri:regionArea>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Tübingen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zimprich, Alexander" sort="Zimprich, Alexander" uniqKey="Zimprich A" first="Alexander" last="Zimprich">Alexander Zimprich</name>
<affiliation wicri:level="3"><country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Neurology, University Hospital, Vienna</wicri:regionArea>
<placeName><settlement type="city">Vienne (Autriche)</settlement>
<region nuts="2" type="province">Vienne (Autriche)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurodegenerative Diseases, Hertie‐Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen, Tuebingen</wicri:regionArea>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Tübingen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F." last="Chinnery">Patrick F. Chinnery</name>
<affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Institute of Human Genetics and Mitochondrial Research Group, M4014, University of Newcastle upon Tyne, Newcastle upon Tyne</wicri:regionArea>
<wicri:noRegion>Newcastle upon Tyne</wicri:noRegion>
</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>Hoboken</pubPlace>
<date type="published" when="2007-10-31">2007-10-31</date>
<biblScope unit="vol">22</biblScope>
<biblScope unit="issue">14</biblScope>
<biblScope unit="page" from="2104">2104</biblScope>
<biblScope unit="page" to="2109">2109</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">1B02DADB943FC3665D69B378206A8C324D6830EB</idno>
<idno type="DOI">10.1002/mds.21692</idno>
<idno type="ArticleID">MDS21692</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Arginine (genetics)</term>
<term>Child</term>
<term>Chorea</term>
<term>Chorea (diagnosis)</term>
<term>Chorea (genetics)</term>
<term>DNA Mutational Analysis</term>
<term>Dystonia</term>
<term>Dystonic Disorders (complications)</term>
<term>Dystonic Disorders (diagnosis)</term>
<term>Dystonic Disorders (genetics)</term>
<term>Exons (genetics)</term>
<term>Family Health</term>
<term>Female</term>
<term>Genotype</term>
<term>Glycine (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Myoclonus</term>
<term>Myoclonus (etiology)</term>
<term>Myoclonus (genetics)</term>
<term>Nervous system diseases</term>
<term>Nuclear Proteins (genetics)</term>
<term>SGCE</term>
<term>Sarcoglycans (genetics)</term>
<term>TITF‐1</term>
<term>Transcription Factors (genetics)</term>
<term>Valine (genetics)</term>
<term>benign hereditary chorea</term>
<term>epsilon‐sarcoglycan</term>
<term>myoclonus‐dystonia</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Arginine</term>
<term>Glycine</term>
<term>Nuclear Proteins</term>
<term>Sarcoglycans</term>
<term>Transcription Factors</term>
<term>Valine</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Dystonic Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Chorea</term>
<term>Dystonic Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Myoclonus</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term>
<term>Dystonic Disorders</term>
<term>Exons</term>
<term>Myoclonus</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Child</term>
<term>DNA Mutational Analysis</term>
<term>Family Health</term>
<term>Female</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term>
<term>Myoclonie</term>
<term>Pathologie du système nerveux</term>
<term>Syndrome choréique</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Because of clinical similarities, benign hereditary chorea and myoclonus‐dystonia (DYT11) might be confused. No systematic comparisons of genetically proven cases with thyroid transcription factor‐1 (TITF‐1) and ε‐sarcoglycan (SGCE) mutations have been performed to date. Three index patients and one index patients' daughter underwent genetic analysis of the TITF‐1 and the SGCE gene. The movement disorders of all patients were assessed by video review. A new splicing mutation (376‐2A>C) of the TITF‐1 gene was detected in a mother and her daughter. Two additional patients carried a de novo SGCE nonsense mutation in exon 3 (R97X) and a novel SGCE missense mutation in exon 6 (G227V). Both TITF‐1 mutation carriers presented with infancy‐onset, nonprogressive chorea, which responded to alcohol intake. In addition, dystonia of the neck and trunk as well as fleeting jerky movements of the distal limbs could be observed. The mutually exclusive appearance of lightning‐like myoclonic jerks triggered by action in SGCE mutation carriers and of continuous chorea of all limbs in TITF‐1 mutation carriers phenotypically discriminated both genetic disorders. TITF‐1 mutations should be considered in choreiform movement disorders with onset in infancy even in the presence of dystonia and myoclonic jerks. © 2007 Movement Disorder Society</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Autriche</li>
<li>Royaume-Uni</li>
</country>
<region><li>Bade-Wurtemberg</li>
<li>District de Tübingen</li>
<li>Vienne (Autriche)</li>
</region>
<settlement><li>Tübingen</li>
<li>Vienne (Autriche)</li>
</settlement>
</list>
<tree><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Asmus, Friedrich" sort="Asmus, Friedrich" uniqKey="Asmus F" first="Friedrich" last="Asmus">Friedrich Asmus</name>
</region>
<name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name>
<name sortKey="Munz, Marita" sort="Munz, Marita" uniqKey="Munz M" first="Marita" last="Munz">Marita Munz</name>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Devlin, Anita" sort="Devlin, Anita" uniqKey="Devlin A" first="Anita" last="Devlin">Anita Devlin</name>
</noRegion>
<name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F." last="Chinnery">Patrick F. Chinnery</name>
</country>
<country name="Autriche"><region name="Vienne (Autriche)"><name sortKey="Zimprich, Alexander" sort="Zimprich, Alexander" uniqKey="Zimprich A" first="Alexander" last="Zimprich">Alexander Zimprich</name>
</region>
</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 002F55 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 002F55 | 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:1B02DADB943FC3665D69B378206A8C324D6830EB |texte= Clinical differentiation of genetically proven benign hereditary chorea and myoclonus‐dystonia }}
This area was generated with Dilib version V0.6.23. |