A yorkshire family with adult-onset cranio-cervical primary torsion dystonia
Identifieur interne : 007670 ( Main/Merge ); précédent : 007669; suivant : 007671A 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.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Adulte.
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, 1940 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.
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Quinn</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Clinical Neurology, Institute of Neurology, University College of London</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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. 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Münchau</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Clinical Neurology, Institute of Neurology, University College of London</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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"><inist:fA14 i1="01"><s1>Department of Clinical Neurology, Institute of Neurology, University College of London</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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"><inist:fA14 i1="01"><s1>Department of Clinical Neurology, Institute of Neurology, University College of London</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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"><inist:fA14 i1="01"><s1>Department of Clinical Neurology, Institute of Neurology, University College of London</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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"><inist:fA14 i1="01"><s1>Department of Clinical Neurology, Institute of Neurology, University College of London</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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"><inist:fA14 i1="01"><s1>Department of Clinical Neurology, Institute of Neurology, University College of London</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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"><inist:fA14 i1="01"><s1>Department of Clinical Neurology, Institute of Neurology, University College of London</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2000">2000</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><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>Diagnosis</term><term>Dystonia musculorum deformans</term><term>Family study</term><term>Genetic determinism</term><term>Linkage</term><term>Phenotype</term><term>Torsion</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie musculaire déformante</term><term>Torsion</term><term>Phénotype</term><term>Liaison génétique</term><term>Age apparition</term><term>Etude familiale</term><term>Diagnostic</term><term>Déterminisme génétique</term><term>Adulte</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Adulte</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 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, 1940 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><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Munchau, A" sort="Munchau, A" uniqKey="Munchau A" first="A." last="Münchau">A. Münchau</name></region><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><name sortKey="Davis, M B" sort="Davis, M B" uniqKey="Davis M" first="M. B." last="Davis">M. B. Davis</name><name sortKey="Quinn, N P" sort="Quinn, N P" uniqKey="Quinn N" first="N. P." last="Quinn">N. P. Quinn</name><name sortKey="Stinton, V" sort="Stinton, V" uniqKey="Stinton V" first="V." last="Stinton">V. Stinton</name><name sortKey="Valente, E M" sort="Valente, E M" uniqKey="Valente E" first="E. M." last="Valente">E. M. Valente</name><name sortKey="Wood, N W" sort="Wood, N W" uniqKey="Wood N" first="N. W." last="Wood">N. W. Wood</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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