A Yorkshire family with adult‐onset cranio‐cervical primary torsion dystonia
Identifieur interne : 004B65 ( Main/Exploration ); précédent : 004B64; suivant : 004B66A 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
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
- Adult, Age of Onset, Age of onset, Blepharospasm (genetics), Child, Preschool, Chromosomes, Human, Pair 18 (genetics), Chromosomes, Human, Pair 8 (genetics), DNA Mutational Analysis, Diagnosis, Dystonia musculorum deformans, Dystonic Disorders (complications), Dystonic Disorders (genetics), Family study, Female, Genetic Linkage, Genetic Markers, Genetic determinism, Genetics, Great Britain, Haplotypes, Humans, Linkage, Lod Score, Male, Middle Aged, Pedigree, Phenotype, Primary torsion dystonia, Syndrome, Torsion, Torticollis, 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 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
Affiliations:
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Le document en format XML
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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>Adult</term><term>Age of Onset</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>Diagnosis</term><term>Dystonia musculorum deformans</term><term>Dystonic Disorders (complications)</term><term>Dystonic Disorders (genetics)</term><term>Family study</term><term>Female</term><term>Genetic Linkage</term><term>Genetic Markers</term><term>Genetic determinism</term><term>Genetics</term><term>Great Britain</term><term>Haplotypes</term><term>Humans</term><term>Linkage</term><term>Lod Score</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Phenotype</term><term>Primary torsion dystonia</term><term>Syndrome</term><term>Torsion</term><term>Torticollis</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><keywords scheme="Pascal" xml:lang="fr"><term>Adulte</term><term>Age apparition</term><term>Diagnostic</term><term>Dystonie musculaire déformante</term><term>Déterminisme génétique</term><term>Etude familiale</term><term>Liaison génétique</term><term>Phénotype</term><term>Torsion</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Adulte</term><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><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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