Analysis of the ϵ‐sarcoglycan gene in familial and sporadic myoclonus‐dystonia: Evidence for genetic heterogeneity
Identifieur interne : 004179 ( Main/Exploration ); précédent : 004178; suivant : 004180Analysis of the ϵ‐sarcoglycan gene in familial and sporadic myoclonus‐dystonia: Evidence for genetic heterogeneity
Auteurs : Enza-Maria Valente [Italie] ; Anjum Misbahuddin [Royaume-Uni] ; Francesco Brancati [Italie] ; Mark R. Placzek [Royaume-Uni] ; Barbara Garavaglia [Italie] ; Sergio Salvi [Italie] ; Andrea Nemeth [Royaume-Uni] ; Charles Shaw-Smith [Royaume-Uni] ; Nardo Nardocci [Italie] ; Anna-Rita Bentivoglio [Italie] ; Alfredo Berardelli [Italie] ; Roberto Eleopra [Italie] ; Bruno Dallapiccola [Italie] ; Thomas T. Warner [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2003-09.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Cytoskeletal Proteins (analysis), Cytoskeletal Proteins (genetics), Dystonia, Dystonic Disorders (genetics), Female, Gene, Genetic Heterogeneity, Genetic determinism, Heterogeneity, Human, Humans, Male, Membrane Glycoproteins (analysis), Membrane Glycoproteins (genetics), Middle Aged, Myoclonus, Myoclonus (genetics), Pedigree, Polymerase Chain Reaction, Sampling Studies, Sarcoglycans, Syndrome, genetic heterogeneity, myoclonus, dystonia, myoclonus‐dystonia syndrome, ϵ‐sarcoglycan.
- MESH :
- chemical , analysis : Cytoskeletal Proteins, Membrane Glycoproteins.
- chemical , genetics : Cytoskeletal Proteins, Membrane Glycoproteins.
- genetics : Dystonic Disorders, Myoclonus.
- Adolescent, Adult, Aged, Female, Genetic Heterogeneity, Humans, Male, Middle Aged, Pedigree, Polymerase Chain Reaction, Sampling Studies, Sarcoglycans, Syndrome.
Abstract
The ϵ‐sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus–dystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with autosomal dominant myoclonus–dystonia. To evaluate the relevance of SGCE in myoclonus–dystonia, we sequenced the entire coding region of the ϵ‐sarcoglycan gene in 16 patients with either sporadic or familial myoclonus–dystonia. No mutations were found. This study suggests that ϵ‐sarcoglycan does not play an important role in sporadic myoclonus–dystonia and supports genetic heterogeneity in familial cases. © 2003 Movement Disorder Society
Url:
DOI: 10.1002/mds.10476
Affiliations:
- Italie, Royaume-Uni
- Angleterre, Grand Londres, Latium, Lombardie, Oxfordshire
- Londres, Milan, Oxford, Rome
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Mendel Institute, San Giovanni Rotondo and Rome</wicri:regionArea><wicri:noRegion>San Giovanni Rotondo and Rome</wicri:noRegion></affiliation></author><author><name sortKey="Misbahuddin, Anjum" sort="Misbahuddin, Anjum" uniqKey="Misbahuddin A" first="Anjum" last="Misbahuddin">Anjum Misbahuddin</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Neurosciences, Royal Free and University College Medical School, 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="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>C.S.S. 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Mendel Institute, San Giovanni Rotondo and Rome</wicri:regionArea><wicri:noRegion>San Giovanni Rotondo and Rome</wicri:noRegion></affiliation></author><author><name sortKey="Nemeth, Andrea" sort="Nemeth, Andrea" uniqKey="Nemeth A" first="Andrea" last="Nemeth">Andrea Nemeth</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Wellcome Trust Centre for Human Genetics, Oxford</wicri:regionArea><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Shaw Mith, Charles" sort="Shaw Mith, Charles" uniqKey="Shaw Mith C" first="Charles" last="Shaw-Smith">Charles Shaw-Smith</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Wellcome Trust Centre for Human Genetics, Oxford</wicri:regionArea><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Nardocci, Nardo" sort="Nardocci, Nardo" uniqKey="Nardocci N" first="Nardo" last="Nardocci">Nardo Nardocci</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Child Neurology, National Neurologic Institute Carlo Besta, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Bentivoglio, Anna Ita" sort="Bentivoglio, Anna Ita" uniqKey="Bentivoglio A" first="Anna-Rita" last="Bentivoglio">Anna-Rita Bentivoglio</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, Catholic University, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences and NEUROMED Institute, University La Sapienza, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Eleopra, Roberto" sort="Eleopra, Roberto" uniqKey="Eleopra R" first="Roberto" last="Eleopra">Roberto Eleopra</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Clinical Neurosciences, University Hospital of Ferrara</wicri:regionArea><wicri:noRegion>University Hospital of Ferrara</wicri:noRegion></affiliation></author><author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>C.S.S. Mendel Institute, San Giovanni Rotondo and Rome</wicri:regionArea><wicri:noRegion>San Giovanni Rotondo and Rome</wicri:noRegion></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Experimental Medicine and Pathology, University La Sapienza, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Warner, Thomas T" sort="Warner, Thomas T" uniqKey="Warner T" first="Thomas T." last="Warner">Thomas T. Warner</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Neurosciences, Royal Free and University College Medical School, 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="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. 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>Hoboken</pubPlace><date type="published" when="2003-09">2003-09</date><biblScope unit="vol">18</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1047">1047</biblScope><biblScope unit="page" to="1051">1051</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">B0F8E7E5502F32AE5DA667E4CFF346BBC5A6F4B5</idno><idno type="DOI">10.1002/mds.10476</idno><idno type="ArticleID">MDS10476</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Cytoskeletal Proteins (analysis)</term><term>Cytoskeletal Proteins (genetics)</term><term>Dystonia</term><term>Dystonic Disorders (genetics)</term><term>Female</term><term>Gene</term><term>Genetic Heterogeneity</term><term>Genetic determinism</term><term>Heterogeneity</term><term>Human</term><term>Humans</term><term>Male</term><term>Membrane Glycoproteins (analysis)</term><term>Membrane Glycoproteins (genetics)</term><term>Middle Aged</term><term>Myoclonus</term><term>Myoclonus (genetics)</term><term>Pedigree</term><term>Polymerase Chain Reaction</term><term>Sampling Studies</term><term>Sarcoglycans</term><term>Syndrome</term><term>genetic heterogeneity</term><term>myoclonus, dystonia</term><term>myoclonus‐dystonia syndrome</term><term>ϵ‐sarcoglycan</term></keywords><keywords scheme="MESH" type="chemical" qualifier="analysis" xml:lang="en"><term>Cytoskeletal Proteins</term><term>Membrane Glycoproteins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cytoskeletal Proteins</term><term>Membrane Glycoproteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term><term>Myoclonus</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Female</term><term>Genetic Heterogeneity</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Polymerase Chain Reaction</term><term>Sampling Studies</term><term>Sarcoglycans</term><term>Syndrome</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Déterminisme génétique</term><term>Gène</term><term>Homme</term><term>Hétérogénéité</term><term>Myoclonie</term><term>ε-Sarcoglycan</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The ϵ‐sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus–dystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with autosomal dominant myoclonus–dystonia. To evaluate the relevance of SGCE in myoclonus–dystonia, we sequenced the entire coding region of the ϵ‐sarcoglycan gene in 16 patients with either sporadic or familial myoclonus–dystonia. No mutations were found. This study suggests that ϵ‐sarcoglycan does not play an important role in sporadic myoclonus–dystonia and supports genetic heterogeneity in familial cases. © 2003 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><li>Lombardie</li><li>Oxfordshire</li></region><settlement><li>Londres</li><li>Milan</li><li>Oxford</li><li>Rome</li></settlement></list><tree><country name="Italie"><noRegion><name sortKey="Valente, Enza Aria" sort="Valente, Enza Aria" uniqKey="Valente E" first="Enza-Maria" last="Valente">Enza-Maria Valente</name></noRegion><name sortKey="Bentivoglio, Anna Ita" sort="Bentivoglio, Anna Ita" uniqKey="Bentivoglio A" first="Anna-Rita" last="Bentivoglio">Anna-Rita Bentivoglio</name><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="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</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="Eleopra, Roberto" sort="Eleopra, Roberto" uniqKey="Eleopra R" first="Roberto" last="Eleopra">Roberto Eleopra</name><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name><name sortKey="Nardocci, Nardo" sort="Nardocci, Nardo" uniqKey="Nardocci N" first="Nardo" last="Nardocci">Nardo Nardocci</name><name sortKey="Salvi, Sergio" sort="Salvi, Sergio" uniqKey="Salvi S" first="Sergio" last="Salvi">Sergio Salvi</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Misbahuddin, Anjum" sort="Misbahuddin, Anjum" uniqKey="Misbahuddin A" first="Anjum" last="Misbahuddin">Anjum Misbahuddin</name></region><name sortKey="Nemeth, Andrea" sort="Nemeth, Andrea" uniqKey="Nemeth A" first="Andrea" last="Nemeth">Andrea Nemeth</name><name sortKey="Placzek, Mark R" sort="Placzek, Mark R" uniqKey="Placzek M" first="Mark R." last="Placzek">Mark R. Placzek</name><name sortKey="Shaw Mith, Charles" sort="Shaw Mith, Charles" uniqKey="Shaw Mith C" first="Charles" last="Shaw-Smith">Charles Shaw-Smith</name><name sortKey="Warner, Thomas T" sort="Warner, Thomas T" uniqKey="Warner T" first="Thomas T." last="Warner">Thomas T. Warner</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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