Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia
Identifieur interne : 002676 ( PascalFrancis/Checkpoint ); précédent : 002675; suivant : 002677Novel 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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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.
Affiliations:
- Italie, Royaume-Uni
- Angleterre, Grand Londres, Latium
- Londres, Rome
- Université de Rome « La Sapienza »
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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="Defazio, Giovanni" sort="Defazio, Giovanni" uniqKey="Defazio G" first="Giovanni" last="Defazio">Giovanni Defazio</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="Caputo, Viviana" sort="Caputo, Viviana" uniqKey="Caputo V" first="Viviana" last="Caputo">Viviana Caputo</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="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><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>17</s2></fA05><fA06><s2>2</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia</s1></fA08><fA11 i1="01" i2="1"><s1>BRANCATI (Francesco)</s1></fA11><fA11 i1="02" i2="1"><s1>DEFAZIO (Giovanni)</s1></fA11><fA11 i1="03" i2="1"><s1>CAPUTO (Viviana)</s1></fA11><fA11 i1="04" i2="1"><s1>VALENTE (Enza Maria)</s1></fA11><fA11 i1="05" i2="1"><s1>PIZZUTI (Antonio)</s1></fA11><fA11 i1="06" i2="1"><s1>LIVREA (Paolo)</s1></fA11><fA11 i1="07" i2="1"><s1>BERARDELLI (Alfredo)</s1></fA11><fA11 i1="08" i2="1"><s1>DALLAPICCOLA (Bruno)</s1></fA11><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></fA14><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></fA14><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></fA14><fA14 i1="04"><s1>Department of Clinical Neurology, Institute of Neurology</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ></fA14><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></fA14><fA20><s1>392-397</s1></fA20><fA21><s1>2002</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000100907450250</s5></fA43><fA44><s0>0000</s0><s1>© 2002 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>20 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>02-0313044</s0></fA47><fA60><s1>P</s1><s3>CC</s3></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>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.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17A01</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Dystonie</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Dystonia</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Distonía</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>Primaire</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Primary</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Primario</s0><s5>03</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Liaison génétique</s0><s5>04</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Linkage</s0><s5>04</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Ligamiento genético</s0><s5>04</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Hétérogénéité</s0><s5>07</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Heterogeneity</s0><s5>07</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Heterogeneidad</s0><s5>07</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Etude familiale</s0><s5>16</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>Family study</s0><s5>16</s5></fC03><fC03 i1="06" i2="X" l="SPA"><s0>Estudio familiar</s0><s5>16</s5></fC03><fC03 i1="07" i2="X" l="FRE"><s0>Physiopathologie</s0><s5>17</s5></fC03><fC03 i1="07" i2="X" l="ENG"><s0>Pathophysiology</s0><s5>17</s5></fC03><fC03 i1="07" i2="X" l="SPA"><s0>Fisiopatología</s0><s5>17</s5></fC03><fC03 i1="08" i2="X" l="FRE"><s0>Adulte</s0><s5>20</s5></fC03><fC03 i1="08" i2="X" l="ENG"><s0>Adult</s0><s5>20</s5></fC03><fC03 i1="08" i2="X" l="SPA"><s0>Adulto</s0><s5>20</s5></fC03><fC03 i1="09" i2="X" l="FRE"><s0>Italie</s0><s2>NG</s2><s5>23</s5></fC03><fC03 i1="09" i2="X" l="ENG"><s0>Italy</s0><s2>NG</s2><s5>23</s5></fC03><fC03 i1="09" i2="X" l="SPA"><s0>Italia</s0><s2>NG</s2><s5>23</s5></fC03><fC03 i1="10" i2="X" l="FRE"><s0>Age apparition</s0><s5>24</s5></fC03><fC03 i1="10" i2="X" l="ENG"><s0>Age of onset</s0><s5>24</s5></fC03><fC03 i1="10" i2="X" l="SPA"><s0>Edad aparición</s0><s5>24</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>Europe</s0><s2>NG</s2></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Europe</s0><s2>NG</s2></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Europa</s0><s2>NG</s2></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Muscle strié pathologie</s0><s5>37</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Striated muscle disease</s0><s5>37</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Músculo estriado patología</s0><s5>37</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Système nerveux pathologie</s0><s5>38</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>38</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>38</s5></fC07><fC07 i1="05" i2="X" l="FRE"><s0>Trouble neurologique</s0><s5>39</s5></fC07><fC07 i1="05" i2="X" l="ENG"><s0>Neurological disorder</s0><s5>39</s5></fC07><fC07 i1="05" i2="X" l="SPA"><s0>Trastorno neurológico</s0><s5>39</s5></fC07><fC07 i1="06" i2="X" l="FRE"><s0>Mouvement involontaire</s0><s5>40</s5></fC07><fC07 i1="06" i2="X" l="ENG"><s0>Involuntary movement</s0><s5>40</s5></fC07><fC07 i1="06" i2="X" l="SPA"><s0>Movimiento involuntario</s0><s5>40</s5></fC07><fC07 i1="07" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0><s5>41</s5></fC07><fC07 i1="07" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0><s5>41</s5></fC07><fC07 i1="07" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0><s5>41</s5></fC07><fC07 i1="08" i2="X" l="FRE"><s0>Génétique</s0><s5>45</s5></fC07><fC07 i1="08" i2="X" l="ENG"><s0>Genetics</s0><s5>45</s5></fC07><fC07 i1="08" i2="X" l="SPA"><s0>Genética</s0><s5>45</s5></fC07><fN21><s1>175</s1></fN21><fN82><s1>PSI</s1></fN82></pA></standard></inist><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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