Novel Italian family supports clinical and genetic heterogeneity of primary adult‐onset torsion dystonia
Identifieur interne : 004370 ( Main/Exploration ); précédent : 004369; suivant : 004371Novel Italian family supports clinical and genetic heterogeneity of primary adult‐onset torsion dystonia
Auteurs : Francesco Brancati [Italie] ; Giovanni Defazio [Italie] ; Viviana Caputo [Italie] ; Enza Maria Valente [Italie, Royaume-Uni] ; Antonio Pizzuti [Italie] ; Paolo Livrea [Italie] ; Alfredo Berardelli [Italie] ; Bruno Dallapiccola [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2002-03.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
- Adult, Age of onset, Aged, Chromosome Aberrations, Chromosome Mapping, Dystonia, Dystonia Musculorum Deformans (diagnosis), Dystonia Musculorum Deformans (genetics), Family study, Female, Genes, Dominant, Genetic Heterogeneity, Genetic Markers (genetics), Heterogeneity, Humans, Italy, Linkage, Lod Score, Male, Middle Aged, Neurologic Examination, Pathophysiology, Pedigree, Phenotype, Primary, Torsion, Torticollis (diagnosis), Torticollis (genetics), focal dystonia, genetic heterogeneity, linkage analysis, primary torsion dystonia.
- MESH :
- chemical , genetics : Genetic Markers.
- diagnosis : Dystonia Musculorum Deformans, Torticollis.
- genetics : Dystonia Musculorum Deformans, Torticollis.
- Adult, Aged, Chromosome Aberrations, Chromosome Mapping, Female, Genes, Dominant, Genetic Heterogeneity, Humans, Lod Score, Male, Middle Aged, Neurologic Examination, Pedigree, Phenotype.
Abstract
We report on an Italian kindred with adult‐onset primary torsion dystonia (PTD). A detailed clinical examination of the six definitely affected family members revealed a mild, purely focal phenotype. The disease involved only one body part (eyes, neck, or arm). PTD in this family was not linked to the known disease loci (DYT1, DYT6, DYT7, and DYT13), and the 3‐bp deletion in the DYT1 gene was also excluded. These findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family. © 2002 Movement Disorder Society.
Url:
DOI: 10.1002/mds.10077
Affiliations:
- Italie, Royaume-Uni
- Angleterre, Grand Londres, Latium
- Londres, Rome
- Université de Rome « La Sapienza »
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Le document en format XML
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="2002-03">2002-03</date><biblScope unit="vol">17</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="392">392</biblScope><biblScope unit="page" to="397">397</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">33F13B0BD009508EF97F99F8F6E7B39E6A2D8A25</idno><idno type="DOI">10.1002/mds.10077</idno><idno type="ArticleID">MDS10077</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>Aged</term><term>Chromosome Aberrations</term><term>Chromosome Mapping</term><term>Dystonia</term><term>Dystonia Musculorum Deformans (diagnosis)</term><term>Dystonia Musculorum Deformans (genetics)</term><term>Family study</term><term>Female</term><term>Genes, Dominant</term><term>Genetic Heterogeneity</term><term>Genetic Markers (genetics)</term><term>Heterogeneity</term><term>Humans</term><term>Italy</term><term>Linkage</term><term>Lod Score</term><term>Male</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Pathophysiology</term><term>Pedigree</term><term>Phenotype</term><term>Primary</term><term>Torsion</term><term>Torticollis (diagnosis)</term><term>Torticollis (genetics)</term><term>focal dystonia</term><term>genetic heterogeneity</term><term>linkage analysis</term><term>primary torsion dystonia</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Genetic Markers</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonia Musculorum Deformans</term><term>Torticollis</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia Musculorum Deformans</term><term>Torticollis</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Chromosome Aberrations</term><term>Chromosome Mapping</term><term>Female</term><term>Genes, Dominant</term><term>Genetic Heterogeneity</term><term>Humans</term><term>Lod Score</term><term>Male</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Pedigree</term><term>Phenotype</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Adulte</term><term>Age apparition</term><term>Dystonie</term><term>Etude familiale</term><term>Hétérogénéité</term><term>Italie</term><term>Liaison génétique</term><term>Physiopathologie</term><term>Primaire</term><term>Torsion</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Italie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Adulte</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report on an Italian kindred with adult‐onset primary torsion dystonia (PTD). A detailed clinical examination of the six definitely affected family members revealed a mild, purely focal phenotype. The disease involved only one body part (eyes, neck, or arm). PTD in this family was not linked to the known disease loci (DYT1, DYT6, DYT7, and DYT13), and the 3‐bp deletion in the DYT1 gene was also excluded. These findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family. © 2002 Movement Disorder Society.</div></front></TEI><affiliations><list><country><li>Italie</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Latium</li></region><settlement><li>Londres</li><li>Rome</li></settlement><orgName><li>Université de Rome « La Sapienza »</li></orgName></list><tree><country name="Italie"><region name="Latium"><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name></region><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</name><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name><name sortKey="Caputo, Viviana" sort="Caputo, Viviana" uniqKey="Caputo V" first="Viviana" last="Caputo">Viviana Caputo</name><name sortKey="Caputo, Viviana" sort="Caputo, Viviana" uniqKey="Caputo V" first="Viviana" last="Caputo">Viviana Caputo</name><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name><name sortKey="Defazio, Giovanni" sort="Defazio, Giovanni" uniqKey="Defazio G" first="Giovanni" last="Defazio">Giovanni Defazio</name><name sortKey="Livrea, Paolo" sort="Livrea, Paolo" uniqKey="Livrea P" first="Paolo" last="Livrea">Paolo Livrea</name><name sortKey="Pizzuti, Antonio" sort="Pizzuti, Antonio" uniqKey="Pizzuti A" first="Antonio" last="Pizzuti">Antonio Pizzuti</name><name sortKey="Pizzuti, Antonio" sort="Pizzuti, Antonio" uniqKey="Pizzuti A" first="Antonio" last="Pizzuti">Antonio Pizzuti</name><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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