Frequency of DYT1 mutation in early onset primary dystonia in Italian patients
Identifieur interne : 004452 ( Main/Exploration ); précédent : 004451; suivant : 004453Frequency of DYT1 mutation in early onset primary dystonia in Italian patients
Auteurs : Giovanna Zorzi [Italie] ; Barbara Garavaglia [Italie] ; Federica Invernizzi [Italie] ; Floriano Girotti [Italie] ; Paola Soliveri [Italie] ; Massimo Zeviani [Italie] ; Lucia Angelini [Italie] ; Nardo Nardocci [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2002-03.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
- Adolescent, Adult, Age of onset, Carrier Proteins (genetics), Child, Child, Preschool, Dystonia, Dystonic Disorders (diagnosis), Dystonic Disorders (genetics), Early, Epidemiology, Female, Frequency, Gene Frequency (genetics), Genetics, Population, Human, Humans, Italy, Male, Molecular Chaperones, Mutation, Mutation (genetics), Polymerase chain reaction, Primary, Single strand conformation polymorphism, Sporadic.
- MESH :
- chemical , genetics : Carrier Proteins.
- geographic : Italy, Molecular Chaperones.
- diagnosis : Dystonic Disorders.
- genetics : Dystonic Disorders, Gene Frequency, Mutation.
- Adolescent, Adult, Child, Child, Preschool, Female, Genetics, Population, Humans, Male.
Abstract
Thirty Italian patients with sporadic, early‐onset, primary dystonia were screened for the DYT1 mutation. Five patients were positive (mean age at onset, 8 years); two had the typical phenotype, two a generalised dystonia also involving the cranial muscles, and one a segmental dystonia. In the other 25 patients (mean age at onset, 7.7 years), dystonia was generalised in 22 patients and remained segmental in three. Our results indicate the role of DYT1 mutation in Italian patients and confirm clinical and genetic heterogeneity of early‐onset primary dystonia. © 2002 Movement Disorder Society
Url:
DOI: 10.1002/mds.10045
Affiliations:
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Besta, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Girotti, Floriano" sort="Girotti, Floriano" uniqKey="Girotti F" first="Floriano" last="Girotti">Floriano Girotti</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, National Neurological Institute C. Besta, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Soliveri, Paola" sort="Soliveri, Paola" uniqKey="Soliveri P" first="Paola" last="Soliveri">Paola Soliveri</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, National Neurological Institute C. Besta, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Zeviani, Massimo" sort="Zeviani, Massimo" uniqKey="Zeviani M" first="Massimo" last="Zeviani">Massimo Zeviani</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Child Neurology, National Neurological Institute C. Besta, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Angelini, Lucia" sort="Angelini, Lucia" uniqKey="Angelini L" first="Lucia" last="Angelini">Lucia Angelini</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Child Neurology, National Neurological Institute C. 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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="407">407</biblScope><biblScope unit="page" to="408">408</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">733C8F9B7B13320F8A9AC51FF470C877CFBB9D9D</idno><idno type="DOI">10.1002/mds.10045</idno><idno type="ArticleID">MDS10045</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>Age of onset</term><term>Carrier Proteins (genetics)</term><term>Child</term><term>Child, Preschool</term><term>Dystonia</term><term>Dystonic Disorders (diagnosis)</term><term>Dystonic Disorders (genetics)</term><term>Early</term><term>Epidemiology</term><term>Female</term><term>Frequency</term><term>Gene Frequency (genetics)</term><term>Genetics, Population</term><term>Human</term><term>Humans</term><term>Italy</term><term>Male</term><term>Molecular Chaperones</term><term>Mutation</term><term>Mutation (genetics)</term><term>Polymerase chain reaction</term><term>Primary</term><term>Single strand conformation polymorphism</term><term>Sporadic</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Carrier Proteins</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Italy</term><term>Molecular Chaperones</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term><term>Gene Frequency</term><term>Mutation</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Child, Preschool</term><term>Female</term><term>Genetics, Population</term><term>Humans</term><term>Male</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Age apparition</term><term>Dystonie</term><term>Epidémiologie</term><term>Fréquence</term><term>Gène DYT1</term><term>Homme</term><term>Mutation</term><term>Polymorphisme conformation simple brin</term><term>Primaire</term><term>Précoce</term><term>Réaction chaîne polymérase</term><term>Sporadique</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Italie</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">Thirty Italian patients with sporadic, early‐onset, primary dystonia were screened for the DYT1 mutation. Five patients were positive (mean age at onset, 8 years); two had the typical phenotype, two a generalised dystonia also involving the cranial muscles, and one a segmental dystonia. In the other 25 patients (mean age at onset, 7.7 years), dystonia was generalised in 22 patients and remained segmental in three. Our results indicate the role of DYT1 mutation in Italian patients and confirm clinical and genetic heterogeneity of early‐onset primary dystonia. © 2002 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Italie</li></country><region><li>Lombardie</li></region><settlement><li>Milan</li></settlement></list><tree><country name="Italie"><region name="Lombardie"><name sortKey="Zorzi, Giovanna" sort="Zorzi, Giovanna" uniqKey="Zorzi G" first="Giovanna" last="Zorzi">Giovanna Zorzi</name></region><name sortKey="Angelini, Lucia" sort="Angelini, Lucia" uniqKey="Angelini L" first="Lucia" last="Angelini">Lucia Angelini</name><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name><name sortKey="Girotti, Floriano" sort="Girotti, Floriano" uniqKey="Girotti F" first="Floriano" last="Girotti">Floriano Girotti</name><name sortKey="Invernizzi, Federica" sort="Invernizzi, Federica" uniqKey="Invernizzi F" first="Federica" last="Invernizzi">Federica Invernizzi</name><name sortKey="Nardocci, Nardo" sort="Nardocci, Nardo" uniqKey="Nardocci N" first="Nardo" last="Nardocci">Nardo Nardocci</name><name sortKey="Soliveri, Paola" sort="Soliveri, Paola" uniqKey="Soliveri P" first="Paola" last="Soliveri">Paola Soliveri</name><name sortKey="Zeviani, Massimo" sort="Zeviani, Massimo" uniqKey="Zeviani M" first="Massimo" last="Zeviani">Massimo Zeviani</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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