A Yorkshire family with adult‐onset cranio‐cervical primary torsion dystonia
Identifieur interne : 007463 ( Main/Merge ); précédent : 007462; suivant : 007464A Yorkshire family with adult‐onset cranio‐cervical primary torsion dystonia
Auteurs : A. Münchau [Royaume-Uni] ; E. M. Valente [Royaume-Uni] ; M. B. Davis [Royaume-Uni] ; V. Stinton [Royaume-Uni] ; N. W. Wood [Royaume-Uni] ; N. P. Quinn [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2000-09.
Descripteurs français
- Wicri :
- topic : Génétique.
English descriptors
- KwdEn :
Abstract
Although a family history is described in approximately 20% of patients, large families with adult‐onset cranio‐cervical primary (idiopathic) torsion dystonia (PTD) are rare. We report a new British family with cranio‐cervical dystonia. Seventeen members of the family were examined. Five cases were diagnosed as definite PTD and one as probable PTD. Mean age at onset was 29 years (range, 19–40 yrs). The phenotype was characterized by adult‐onset cranio‐cervical dystonia in all affected cases. A few cases had additional voice tremor and/or postural arm tremor. The GAG deletion in the DYT1 gene was excluded in the index case. Linkage analysis was performed between the disease and several marker loci spanning DYT6 and DYT7 regions, and haplotypes were reconstructed in all subjects. Although linkage analysis was not completely informative, reconstructed haplotypes excluded linkage between the disease and either DYT6 or DYT7. This report confirms that familial cranio‐cervical dystonia is genetically heterogeneous, and further studies of other PTD families with similar clinical features are needed to identify other new genes.
Url:
DOI: 10.1002/1531-8257(200009)15:5<954::AID-MDS1028>3.0.CO;2-I
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 002939
- to stream Istex, to step Curation: 002939
- to stream Istex, to step Checkpoint: 003366
Links to Exploration step
ISTEX:82E48B3AF029D7281E6D585C25B789FFE24CC37FLe document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">A Yorkshire family with adult‐onset cranio‐cervical primary torsion dystonia</title>
<author><name sortKey="Munchau, A" sort="Munchau, A" uniqKey="Munchau A" first="A." last="Münchau">A. Münchau</name>
</author>
<author><name sortKey="Valente, E M" sort="Valente, E M" uniqKey="Valente E" first="E. M." last="Valente">E. M. Valente</name>
</author>
<author><name sortKey="Davis, M B" sort="Davis, M B" uniqKey="Davis M" first="M. B." last="Davis">M. B. Davis</name>
</author>
<author><name sortKey="Stinton, V" sort="Stinton, V" uniqKey="Stinton V" first="V." last="Stinton">V. Stinton</name>
</author>
<author><name sortKey="Wood, N W" sort="Wood, N W" uniqKey="Wood N" first="N. W." last="Wood">N. W. Wood</name>
</author>
<author><name sortKey="Quinn, N P" sort="Quinn, N P" uniqKey="Quinn N" first="N. P." last="Quinn">N. P. Quinn</name>
</author>
<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:82E48B3AF029D7281E6D585C25B789FFE24CC37F</idno>
<date when="2000" year="2000">2000</date>
<idno type="doi">10.1002/1531-8257(200009)15:5<954::AID-MDS1028>3.0.CO;2-I</idno>
<idno type="url">https://api.istex.fr/document/82E48B3AF029D7281E6D585C25B789FFE24CC37F/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">002939</idno>
<idno type="wicri:Area/Istex/Curation">002939</idno>
<idno type="wicri:Area/Istex/Checkpoint">003366</idno>
<idno type="wicri:doubleKey">0885-3185:2000:Munchau A:a:yorkshire:family</idno>
<idno type="wicri:Area/Main/Merge">007463</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">A Yorkshire family with adult‐onset cranio‐cervical primary torsion dystonia</title>
<author><name sortKey="Munchau, A" sort="Munchau, A" uniqKey="Munchau A" first="A." last="Münchau">A. Münchau</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Clinical Neurology, Institute of Neurology, University College of London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Valente, E M" sort="Valente, E M" uniqKey="Valente E" first="E. M." last="Valente">E. M. Valente</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Clinical Neurology, Institute of Neurology, University College of London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Davis, M B" sort="Davis, M B" uniqKey="Davis M" first="M. B." last="Davis">M. B. Davis</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Clinical Neurology, Institute of Neurology, University College of London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Stinton, V" sort="Stinton, V" uniqKey="Stinton V" first="V." last="Stinton">V. Stinton</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Clinical Neurology, Institute of Neurology, University College of London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wood, N W" sort="Wood, N W" uniqKey="Wood N" first="N. W." last="Wood">N. W. Wood</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Clinical Neurology, Institute of Neurology, University College of London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Quinn, N P" sort="Quinn, N P" uniqKey="Quinn N" first="N. P." last="Quinn">N. P. Quinn</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Clinical Neurology, Institute of Neurology, University College of London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
<affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Clinical Neurology, Institute of Neurology, University College of London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>John Wiley & Sons, Inc.</publisher>
<pubPlace>New York</pubPlace>
<date type="published" when="2000-09">2000-09</date>
<biblScope unit="vol">15</biblScope>
<biblScope unit="issue">5</biblScope>
<biblScope unit="page" from="954">954</biblScope>
<biblScope unit="page" to="959">959</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">82E48B3AF029D7281E6D585C25B789FFE24CC37F</idno>
<idno type="DOI">10.1002/1531-8257(200009)15:5<954::AID-MDS1028>3.0.CO;2-I</idno>
<idno type="ArticleID">MDS1028</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Genetics</term>
<term>Primary torsion dystonia</term>
<term>Torticollis</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Although a family history is described in approximately 20% of patients, large families with adult‐onset cranio‐cervical primary (idiopathic) torsion dystonia (PTD) are rare. We report a new British family with cranio‐cervical dystonia. Seventeen members of the family were examined. Five cases were diagnosed as definite PTD and one as probable PTD. Mean age at onset was 29 years (range, 19–40 yrs). The phenotype was characterized by adult‐onset cranio‐cervical dystonia in all affected cases. A few cases had additional voice tremor and/or postural arm tremor. The GAG deletion in the DYT1 gene was excluded in the index case. Linkage analysis was performed between the disease and several marker loci spanning DYT6 and DYT7 regions, and haplotypes were reconstructed in all subjects. Although linkage analysis was not completely informative, reconstructed haplotypes excluded linkage between the disease and either DYT6 or DYT7. This report confirms that familial cranio‐cervical dystonia is genetically heterogeneous, and further studies of other PTD families with similar clinical features are needed to identify other new genes.</div>
</front>
</TEI>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Merge
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 007463 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Merge/biblio.hfd -nk 007463 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Main |étape= Merge |type= RBID |clé= ISTEX:82E48B3AF029D7281E6D585C25B789FFE24CC37F |texte= A Yorkshire family with adult‐onset cranio‐cervical primary torsion dystonia }}
This area was generated with Dilib version V0.6.23. |