Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia
Identifieur interne : 006715 ( Main/Merge ); précédent : 006714; suivant : 006716Novel 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.
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- Pascal (Inist)
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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 (DYTI, DYT6, DYT7, and DYT13), and the 3-hp deletion in the DYTI 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.
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Mendel</s1><s2>Rome</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Dipartimento di Medicina Sperimentale e Patologia, Università La Sapienza</s1><s2>Rome</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName><orgName type="university">Université de Rome « La Sapienza »</orgName></affiliation></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Istituto C.S.S. Mendel</s1><s2>Rome</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Clinical Neurology, Institute of Neurology</s1><s2>London</s2><s3>GBR</s3><sZ>4 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="Pizzuti, Antonio" sort="Pizzuti, Antonio" uniqKey="Pizzuti A" first="Antonio" last="Pizzuti">Antonio Pizzuti</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Istituto C.S.S. Mendel</s1><s2>Rome</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Dipartimento di Medicina Sperimentale e Patologia, Università La Sapienza</s1><s2>Rome</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName><orgName type="university">Université de Rome « La Sapienza »</orgName></affiliation></author><author><name sortKey="Livrea, Paolo" sort="Livrea, Paolo" uniqKey="Livrea P" first="Paolo" last="Livrea">Paolo Livrea</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Dipartimento di Scienze Neurologiche e Psichiatriche, Policlinico, Università di Bari</s1><s2>Bari</s2><s3>ITA</s3><sZ>2 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Bari</wicri:noRegion></affiliation></author><author><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</name><affiliation wicri:level="4"><inist:fA14 i1="05"><s1>Dipartimento di Scienze Neurologiche e Istituto Neuromed, Università La Sapienza</s1><s2>Rome</s2><s3>ITA</s3><sZ>7 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName><orgName type="university">Université de Rome « La Sapienza »</orgName></affiliation></author><author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Istituto C.S.S. Mendel</s1><s2>Rome</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Dipartimento di Medicina Sperimentale e Patologia, Università La Sapienza</s1><s2>Rome</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName><orgName type="university">Université de Rome « La Sapienza »</orgName></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="2002">2002</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>Dystonia</term><term>Family study</term><term>Heterogeneity</term><term>Italy</term><term>Linkage</term><term>Pathophysiology</term><term>Primary</term><term>Torsion</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Torsion</term><term>Primaire</term><term>Liaison génétique</term><term>Hétérogénéité</term><term>Etude familiale</term><term>Physiopathologie</term><term>Adulte</term><term>Italie</term><term>Age apparition</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></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 (DYTI, DYT6, DYT7, and DYT13), and the 3-hp deletion in the DYTI 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.</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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