Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene
Identifieur interne : 004089 ( Main/Exploration ); précédent : 004088; suivant : 004090Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene
Auteurs : Giovanni Defazio [Italie] ; Francesco Brancati [Italie] ; Enza Maria Valente [Italie] ; Viviana Caputo [Italie] ; Antonio Pizzuti [Italie] ; Davide Martino [Italie] ; Giovanni Abbruzzese [Italie] ; Paolo Livrea [Italie] ; Alfredo Berardelli [Italie] ; Bruno Dallapiccola [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2003-02.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Autosomal character, Blepharospasm, Blepharospasm (genetics), DNA Primers (genetics), Dominant character, Dystonia Musculorum Deformans (genetics), Exploration, Family study, Female, Gene Expression (genetics), Genetic Linkage, Genetic Markers, Human, Humans, Italy, Linkage, Male, Middle Aged, Molecular Biology (methods), Pedigree, Polymerase Chain Reaction, autosomal dominant inheritance, familial blepharospasm, linkage analysis, primary torsion dystonia.
- MESH :
- chemical , genetics : DNA Primers.
- genetics : Blepharospasm, Dystonia Musculorum Deformans, Gene Expression.
- methods : Molecular Biology.
- Adolescent, Adult, Aged, Female, Genetic Linkage, Genetic Markers, Humans, Male, Middle Aged, Pedigree, Polymerase Chain Reaction.
Abstract
Blepharospasm (BSP) is a common form of primary torsion dystonia (PTD). Although most cases are sporadic, an increased familial incidence of BSP has been reported. Precisely how blepharospasm is inherited remains unclear. We report on two Italian families with adult‐onset focal BSP inherited as an autosomal dominant trait with reduced penetrance. None of the affected family members had the 3‐bp (GAG) or the 18‐bp deletion in the DYT1 gene. In one family, linkage analysis allowed us to exclude segregation of the disease with the known PTD loci (DYT1, DYT6, DYT7, and DYT13). These findings suggest that primary familial adult‐onset BSP is a distinct entity among inherited PTD and is caused by a novel, unmapped gene. © Movement Disorder Society
Url:
DOI: 10.1002/mds.10314
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 002F03
- to stream Istex, to step Curation: 002F03
- to stream Istex, to step Checkpoint: 002A19
- to stream PubMed, to step Corpus: 003847
- to stream PubMed, to step Curation: 003847
- to stream PubMed, to step Checkpoint: 003778
- to stream Ncbi, to step Merge: 000A04
- to stream Ncbi, to step Curation: 000A04
- to stream Ncbi, to step Checkpoint: 000A04
- to stream Main, to step Merge: 005D12
- to stream PascalFrancis, to step Corpus: 002536
- to stream PascalFrancis, to step Curation: 000785
- to stream PascalFrancis, to step Checkpoint: 002454
- to stream Main, to step Merge: 006000
- to stream Main, to step Curation: 004089
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene</title><author><name sortKey="Defazio, Giovanni" sort="Defazio, Giovanni" uniqKey="Defazio G" first="Giovanni" last="Defazio">Giovanni Defazio</name></author><author><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name></author><author><name sortKey="Caputo, Viviana" sort="Caputo, Viviana" uniqKey="Caputo V" first="Viviana" last="Caputo">Viviana Caputo</name></author><author><name sortKey="Pizzuti, Antonio" sort="Pizzuti, Antonio" uniqKey="Pizzuti A" first="Antonio" last="Pizzuti">Antonio Pizzuti</name></author><author><name sortKey="Martino, Davide" sort="Martino, Davide" uniqKey="Martino D" first="Davide" last="Martino">Davide Martino</name></author><author><name sortKey="Abbruzzese, Giovanni" sort="Abbruzzese, Giovanni" uniqKey="Abbruzzese G" first="Giovanni" last="Abbruzzese">Giovanni Abbruzzese</name></author><author><name sortKey="Livrea, Paolo" sort="Livrea, Paolo" uniqKey="Livrea P" first="Paolo" last="Livrea">Paolo Livrea</name></author><author><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</name></author><author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:214ADD757124A0E40937B3F885BAB9E10E75E370</idno><date when="2003" year="2003">2003</date><idno type="doi">10.1002/mds.10314</idno><idno type="url">https://api.istex.fr/document/214ADD757124A0E40937B3F885BAB9E10E75E370/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002F03</idno><idno type="wicri:Area/Istex/Curation">002F03</idno><idno type="wicri:Area/Istex/Checkpoint">002A19</idno><idno type="wicri:doubleKey">0885-3185:2003:Defazio G:familial:blepharospasm:is</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:12539217</idno><idno type="wicri:Area/PubMed/Corpus">003847</idno><idno type="wicri:Area/PubMed/Curation">003847</idno><idno type="wicri:Area/PubMed/Checkpoint">003778</idno><idno type="wicri:Area/Ncbi/Merge">000A04</idno><idno type="wicri:Area/Ncbi/Curation">000A04</idno><idno type="wicri:Area/Ncbi/Checkpoint">000A04</idno><idno type="wicri:doubleKey">0885-3185:2003:Defazio G:familial:blepharospasm:is</idno><idno type="wicri:Area/Main/Merge">005D12</idno><idno type="wicri:source">INIST</idno><idno type="RBID">Pascal:03-0171583</idno><idno type="wicri:Area/PascalFrancis/Corpus">002536</idno><idno type="wicri:Area/PascalFrancis/Curation">000785</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">002454</idno><idno type="wicri:doubleKey">0885-3185:2003:Defazio G:familial:blepharospasm:is</idno><idno type="wicri:Area/Main/Merge">006000</idno><idno type="wicri:Area/Main/Curation">004089</idno><idno type="wicri:Area/Main/Exploration">004089</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene</title><author><name sortKey="Defazio, Giovanni" sort="Defazio, Giovanni" uniqKey="Defazio G" first="Giovanni" last="Defazio">Giovanni Defazio</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological and Psychiatric Sciences, University of Bari, Bari</wicri:regionArea><wicri:noRegion>Bari</wicri:noRegion></affiliation></author><author><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>C.S.S. Mendel Institute, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></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="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>C.S.S. Mendel Institute, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Caputo, Viviana" sort="Caputo, Viviana" uniqKey="Caputo V" first="Viviana" last="Caputo">Viviana Caputo</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>C.S.S. Mendel Institute, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></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="Pizzuti, Antonio" sort="Pizzuti, Antonio" uniqKey="Pizzuti A" first="Antonio" last="Pizzuti">Antonio Pizzuti</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>C.S.S. Mendel Institute, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></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="Martino, Davide" sort="Martino, Davide" uniqKey="Martino D" first="Davide" last="Martino">Davide Martino</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological and Psychiatric Sciences, University of Bari, Bari</wicri:regionArea><wicri:noRegion>Bari</wicri:noRegion></affiliation></author><author><name sortKey="Abbruzzese, Giovanni" sort="Abbruzzese, Giovanni" uniqKey="Abbruzzese G" first="Giovanni" last="Abbruzzese">Giovanni Abbruzzese</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences and Vision, University of Genoa, Genoa</wicri:regionArea><wicri:noRegion>Genoa</wicri:noRegion></affiliation></author><author><name sortKey="Livrea, Paolo" sort="Livrea, Paolo" uniqKey="Livrea P" first="Paolo" last="Livrea">Paolo Livrea</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological and Psychiatric Sciences, University of Bari, Bari</wicri:regionArea><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="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, University La Sapienza, Rome Neuromed Institute, Pozzilli (IS)</wicri:regionArea><wicri:noRegion>Pozzilli (IS)</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="3"><country xml:lang="fr">Italie</country><wicri:regionArea>C.S.S. Mendel Institute, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></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></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>New York</pubPlace><date type="published" when="2003-02">2003-02</date><biblScope unit="vol">18</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="207">207</biblScope><biblScope unit="page" to="212">212</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">214ADD757124A0E40937B3F885BAB9E10E75E370</idno><idno type="DOI">10.1002/mds.10314</idno><idno type="ArticleID">MDS10314</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>Autosomal character</term><term>Blepharospasm</term><term>Blepharospasm (genetics)</term><term>DNA Primers (genetics)</term><term>Dominant character</term><term>Dystonia Musculorum Deformans (genetics)</term><term>Exploration</term><term>Family study</term><term>Female</term><term>Gene Expression (genetics)</term><term>Genetic Linkage</term><term>Genetic Markers</term><term>Human</term><term>Humans</term><term>Italy</term><term>Linkage</term><term>Male</term><term>Middle Aged</term><term>Molecular Biology (methods)</term><term>Pedigree</term><term>Polymerase Chain Reaction</term><term>autosomal dominant inheritance</term><term>familial blepharospasm</term><term>linkage analysis</term><term>primary torsion dystonia</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA Primers</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Blepharospasm</term><term>Dystonia Musculorum Deformans</term><term>Gene Expression</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Molecular Biology</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Female</term><term>Genetic Linkage</term><term>Genetic Markers</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Polymerase Chain Reaction</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Blépharospasme</term><term>Caractère autosomique</term><term>Caractère dominant</term><term>Etude familiale</term><term>Exploration</term><term>Homme</term><term>Italie</term><term>Liaison génétique</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">Blepharospasm (BSP) is a common form of primary torsion dystonia (PTD). Although most cases are sporadic, an increased familial incidence of BSP has been reported. Precisely how blepharospasm is inherited remains unclear. We report on two Italian families with adult‐onset focal BSP inherited as an autosomal dominant trait with reduced penetrance. None of the affected family members had the 3‐bp (GAG) or the 18‐bp deletion in the DYT1 gene. In one family, linkage analysis allowed us to exclude segregation of the disease with the known PTD loci (DYT1, DYT6, DYT7, and DYT13). These findings suggest that primary familial adult‐onset BSP is a distinct entity among inherited PTD and is caused by a novel, unmapped gene. © Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Italie</li></country><region><li>Latium</li></region><settlement><li>Rome</li></settlement></list><tree><country name="Italie"><noRegion><name sortKey="Defazio, Giovanni" sort="Defazio, Giovanni" uniqKey="Defazio G" first="Giovanni" last="Defazio">Giovanni Defazio</name></noRegion><name sortKey="Abbruzzese, Giovanni" sort="Abbruzzese, Giovanni" uniqKey="Abbruzzese G" first="Giovanni" last="Abbruzzese">Giovanni Abbruzzese</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="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="Livrea, Paolo" sort="Livrea, Paolo" uniqKey="Livrea P" first="Paolo" last="Livrea">Paolo Livrea</name><name sortKey="Martino, Davide" sort="Martino, Davide" uniqKey="Martino D" first="Davide" last="Martino">Davide Martino</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></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 004089 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 004089 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:214ADD757124A0E40937B3F885BAB9E10E75E370
|texte= Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene
}}
| This area was generated with Dilib version V0.6.23. |  |