MovDisordV3, PascalFrancis, Curation, bibRecord, 000166

A yorkshire family with adult-onset cranio-cervical primary torsion dystonia

Identifieur interne : 000166 ( PascalFrancis/Curation ); précédent : 000165; suivant : 000167

A 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.

RBID : Pascal:00-0480418

Descripteurs français

Pascal (Inist)
- Dystonie musculaire déformante, Torsion, Phénotype, Liaison génétique, Age apparition, Etude familiale, Diagnostic, Déterminisme génétique, Adulte.
Wicri :
- topic : Adulte.

English descriptors

KwdEn :
- Adult, Age of onset, Diagnosis, Dystonia musculorum deformans, Family study, Genetic determinism, Linkage, Phenotype, Torsion.

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.

A01	`01`	`1`		`@0 0885-3185`
A03		`1`		`@0 Mov. disord.`
A05				`@2 15`
A06				`@2 5`
A08	`01`	`1`	`ENG`	`@1 A yorkshire family with adult-onset cranio-cervical primary torsion dystonia`
A11	`01`	`1`		`@1 MÜNCHAU (A.)`
A11	`02`	`1`		`@1 VALENTE (E. M.)`
A11	`03`	`1`		`@1 DAVIS (M. B.)`
A11	`04`	`1`		`@1 STINTON (V.)`
A11	`05`	`1`		`@1 WOOD (N. W.)`
A11	`06`	`1`		`@1 QUINN (N. P.)`
A11	`07`	`1`		`@1 BHATIA (Kailash P.)`
A14	`01`			`@1 Department of Clinical Neurology, Institute of Neurology, University College of London @2 London @3 GBR @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 4 aut. @Z 5 aut. @Z 6 aut. @Z 7 aut.`
A20				`@1 954-959`
A21				`@1 2000`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000091356830270`
A44				`@0 0000 @1 © 2000 INIST-CNRS. All rights reserved.`
A45				`@0 27 ref.`
A47	`01`	`1`		`@0 00-0480418`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17H`
C03	`01`	`X`	`FRE`	`@0 Dystonie musculaire déformante @5 01`
C03	`01`	`X`	`ENG`	`@0 Dystonia musculorum deformans @5 01`
C03	`01`	`X`	`SPA`	`@0 Distonía muscular deformante @5 01`
C03	`02`	`X`	`FRE`	`@0 Torsion @5 02`
C03	`02`	`X`	`ENG`	`@0 Torsion @5 02`
C03	`02`	`X`	`SPA`	`@0 Torsión @5 02`
C03	`03`	`X`	`FRE`	`@0 Phénotype @5 04`
C03	`03`	`X`	`ENG`	`@0 Phenotype @5 04`
C03	`03`	`X`	`SPA`	`@0 Fenotipo @5 04`
C03	`04`	`X`	`FRE`	`@0 Liaison génétique @5 07`
C03	`04`	`X`	`ENG`	`@0 Linkage @5 07`
C03	`04`	`X`	`SPA`	`@0 Ligamiento genético @5 07`
C03	`05`	`X`	`FRE`	`@0 Age apparition @5 10`
C03	`05`	`X`	`ENG`	`@0 Age of onset @5 10`
C03	`05`	`X`	`SPA`	`@0 Edad aparición @5 10`
C03	`06`	`X`	`FRE`	`@0 Etude familiale @5 17`
C03	`06`	`X`	`ENG`	`@0 Family study @5 17`
C03	`06`	`X`	`SPA`	`@0 Estudio familiar @5 17`
C03	`07`	`X`	`FRE`	`@0 Diagnostic @5 18`
C03	`07`	`X`	`ENG`	`@0 Diagnosis @5 18`
C03	`07`	`X`	`SPA`	`@0 Diagnóstico @5 18`
C03	`08`	`X`	`FRE`	`@0 Déterminisme génétique @5 19`
C03	`08`	`X`	`ENG`	`@0 Genetic determinism @5 19`
C03	`08`	`X`	`SPA`	`@0 Determinismo genético @5 19`
C03	`09`	`X`	`FRE`	`@0 Adulte @5 20`
C03	`09`	`X`	`ENG`	`@0 Adult @5 20`
C03	`09`	`X`	`SPA`	`@0 Adulto @5 20`
C07	`01`	`X`	`FRE`	`@0 Homme`
C07	`01`	`X`	`ENG`	`@0 Human`
C07	`01`	`X`	`SPA`	`@0 Hombre`
C07	`02`	`X`	`FRE`	`@0 Système nerveux pathologie @5 37`
C07	`02`	`X`	`ENG`	`@0 Nervous system diseases @5 37`
C07	`02`	`X`	`SPA`	`@0 Sistema nervioso patología @5 37`
C07	`03`	`X`	`FRE`	`@0 Système nerveux central pathologie @5 38`
C07	`03`	`X`	`ENG`	`@0 Central nervous system disease @5 38`
C07	`03`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 38`
C07	`04`	`X`	`FRE`	`@0 Encéphale pathologie @5 39`
C07	`04`	`X`	`ENG`	`@0 Cerebral disorder @5 39`
C07	`04`	`X`	`SPA`	`@0 Encéfalo patología @5 39`
C07	`05`	`X`	`FRE`	`@0 Extrapyramidal syndrome @5 40`
C07	`05`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 40`
C07	`05`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 40`
C07	`06`	`X`	`FRE`	`@0 Maladie dégénérative @5 41`
C07	`06`	`X`	`ENG`	`@0 Degenerative disease @5 41`
C07	`06`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 41`
C07	`07`	`X`	`FRE`	`@0 Maladie héréditaire @5 42`
C07	`07`	`X`	`ENG`	`@0 Genetic disease @5 42`
C07	`07`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 42`
C07	`08`	`X`	`FRE`	`@0 Génétique @5 53`
C07	`08`	`X`	`ENG`	`@0 Genetics @5 53`
C07	`08`	`X`	`SPA`	`@0 Genética @5 53`
N21				`@1 318`

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: Pour aller vers cette notice dans l'étape Curation :002B55

Links to Exploration step

Pascal:00-0480418

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">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"><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>
</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="1"><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>
</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="1"><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>
</affiliation>
</author>
<author><name sortKey="Stinton, V" sort="Stinton, V" uniqKey="Stinton V" first="V." last="Stinton">V. Stinton</name>
<affiliation wicri:level="1"><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>
</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="1"><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>
</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="1"><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>
</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="1"><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>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">00-0480418</idno>
<date when="2000">2000</date>
<idno type="stanalyst">PASCAL 00-0480418 INIST</idno>
<idno type="RBID">Pascal:00-0480418</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">002B55</idno>
<idno type="wicri:Area/PascalFrancis/Curation">000166</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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"><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>
</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="1"><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>
</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="1"><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>
</affiliation>
</author>
<author><name sortKey="Stinton, V" sort="Stinton, V" uniqKey="Stinton V" first="V." last="Stinton">V. Stinton</name>
<affiliation wicri:level="1"><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>
</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="1"><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>
</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="1"><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>
</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="1"><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>
</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>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0>
</fA01>
<fA03 i2="1"><s0>Mov. disord.</s0>
</fA03>
<fA05><s2>15</s2>
</fA05>
<fA06><s2>5</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>A yorkshire family with adult-onset cranio-cervical primary torsion dystonia</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>MÜNCHAU (A.)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>VALENTE (E. M.)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>DAVIS (M. B.)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>STINTON (V.)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>WOOD (N. W.)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>QUINN (N. P.)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>BHATIA (Kailash P.)</s1>
</fA11>
<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>
</fA14>
<fA20><s1>954-959</s1>
</fA20>
<fA21><s1>2000</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000091356830270</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2000 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>27 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>00-0480418</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17H</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Dystonie musculaire déformante</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Dystonia musculorum deformans</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Distonía muscular deformante</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Torsion</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Torsion</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Torsión</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Phénotype</s0>
<s5>04</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Phenotype</s0>
<s5>04</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Fenotipo</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Liaison génétique</s0>
<s5>07</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Linkage</s0>
<s5>07</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Ligamiento genético</s0>
<s5>07</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Age apparition</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Age of onset</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Edad aparición</s0>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Etude familiale</s0>
<s5>17</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Family study</s0>
<s5>17</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Estudio familiar</s0>
<s5>17</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Diagnostic</s0>
<s5>18</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Diagnosis</s0>
<s5>18</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Diagnóstico</s0>
<s5>18</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Déterminisme génétique</s0>
<s5>19</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Genetic determinism</s0>
<s5>19</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Determinismo genético</s0>
<s5>19</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Adulte</s0>
<s5>20</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Adult</s0>
<s5>20</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Adulto</s0>
<s5>20</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Homme</s0>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Human</s0>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Hombre</s0>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>40</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>41</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>42</s5>
</fC07>
<fC07 i1="08" i2="X" l="FRE"><s0>Génétique</s0>
<s5>53</s5>
</fC07>
<fC07 i1="08" i2="X" l="ENG"><s0>Genetics</s0>
<s5>53</s5>
</fC07>
<fC07 i1="08" i2="X" l="SPA"><s0>Genética</s0>
<s5>53</s5>
</fC07>
<fN21><s1>318</s1>
</fN21>
</pA>
</standard>
</inist>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PascalFrancis/Curation

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000166 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Curation/biblio.hfd -nk 000166 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    PascalFrancis
   |étape=   Curation
   |type=    RBID
   |clé=     Pascal:00-0480418
   |texte=   A yorkshire family with adult-onset cranio-cervical primary torsion dystonia
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

A yorkshire family with adult-onset cranio-cervical primary torsion dystonia

A yorkshire family with adult-onset cranio-cervical primary torsion dystonia

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri