A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia.
Identifieur interne : 007207 ( Main/Merge ); précédent : 007206; suivant : 007208A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia.
Auteurs : A. Münchau [Royaume-Uni] ; E M Valente ; M B Davis ; V. Stinton ; N W Wood ; N P Quinn ; K P BhatiaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2000.
English descriptors
- KwdEn :
- Adult, Age of Onset, Blepharospasm (genetics), Child, Preschool, Chromosomes, Human, Pair 18 (genetics), Chromosomes, Human, Pair 8 (genetics), DNA Mutational Analysis, Dystonic Disorders (complications), Dystonic Disorders (genetics), Female, Genetic Linkage, Genetic Markers, Great Britain, Haplotypes, Humans, Lod Score, Male, Middle Aged, Pedigree, Phenotype, Syndrome, Torticollis (genetics), Tremor (genetics), Videotape Recording.
- MESH :
- chemical : Genetic Markers.
- geographic : Great Britain.
- complications : Dystonic Disorders.
- genetics : Blepharospasm, Chromosomes, Human, Pair 18, Chromosomes, Human, Pair 8, Dystonic Disorders, Torticollis, Tremor.
- Adult, Age of Onset, Child, Preschool, DNA Mutational Analysis, Female, Genetic Linkage, Haplotypes, Humans, Lod Score, Male, Middle Aged, Pedigree, Phenotype, Syndrome, Videotape Recording.
Abstract
Although a family history is described in approximately 20% of patients, large families with adult-onset craniocervical 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.
PubMed: 11009204
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 003F01
- to stream PubMed, to step Curation: 003F01
- to stream PubMed, to step Checkpoint: 004064
- to stream Ncbi, to step Merge: 000350
- to stream Ncbi, to step Curation: 000350
- to stream Ncbi, to step Checkpoint: 000350
Links to Exploration step
pubmed:11009204Le document en format XML
<record><TEI><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>
<affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Neurology, Institute of Neurology, University College of London, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Clinical Neurology, Institute of Neurology, University College of London</wicri:regionArea>
<wicri:noRegion>University College of London</wicri:noRegion>
</affiliation>
</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, K P" sort="Bhatia, K P" uniqKey="Bhatia K" first="K P" last="Bhatia">K P Bhatia</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2000">2000</date>
<idno type="RBID">pubmed:11009204</idno>
<idno type="pmid">11009204</idno>
<idno type="wicri:Area/PubMed/Corpus">003F01</idno>
<idno type="wicri:Area/PubMed/Curation">003F01</idno>
<idno type="wicri:Area/PubMed/Checkpoint">004064</idno>
<idno type="wicri:Area/Ncbi/Merge">000350</idno>
<idno type="wicri:Area/Ncbi/Curation">000350</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000350</idno>
<idno type="wicri:doubleKey">0885-3185:2000:Munchau A:a:yorkshire:family</idno>
<idno type="wicri:Area/Main/Merge">007207</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><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>
<affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Neurology, Institute of Neurology, University College of London, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Clinical Neurology, Institute of Neurology, University College of London</wicri:regionArea>
<wicri:noRegion>University College of London</wicri:noRegion>
</affiliation>
</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, K P" sort="Bhatia, K P" uniqKey="Bhatia K" first="K P" last="Bhatia">K P Bhatia</name>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2000" type="published">2000</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Age of Onset</term>
<term>Blepharospasm (genetics)</term>
<term>Child, Preschool</term>
<term>Chromosomes, Human, Pair 18 (genetics)</term>
<term>Chromosomes, Human, Pair 8 (genetics)</term>
<term>DNA Mutational Analysis</term>
<term>Dystonic Disorders (complications)</term>
<term>Dystonic Disorders (genetics)</term>
<term>Female</term>
<term>Genetic Linkage</term>
<term>Genetic Markers</term>
<term>Great Britain</term>
<term>Haplotypes</term>
<term>Humans</term>
<term>Lod Score</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Syndrome</term>
<term>Torticollis (genetics)</term>
<term>Tremor (genetics)</term>
<term>Videotape Recording</term>
</keywords>
<keywords scheme="MESH" type="chemical" xml:lang="en"><term>Genetic Markers</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Great Britain</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Dystonic Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Blepharospasm</term>
<term>Chromosomes, Human, Pair 18</term>
<term>Chromosomes, Human, Pair 8</term>
<term>Dystonic Disorders</term>
<term>Torticollis</term>
<term>Tremor</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Age of Onset</term>
<term>Child, Preschool</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Genetic Linkage</term>
<term>Haplotypes</term>
<term>Humans</term>
<term>Lod Score</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Syndrome</term>
<term>Videotape Recording</term>
</keywords>
</textClass>
</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 craniocervical 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 007207 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Merge/biblio.hfd -nk 007207 | 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= pubmed:11009204 |texte= A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Merge/RBID.i -Sk "pubmed:11009204" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Merge/biblio.hfd \ | NlmPubMed2Wicri -a MovDisordV3
![]() | This area was generated with Dilib version V0.6.23. | ![]() |