Italian family with cranial cervical dystonia: Clinical and genetic study
Identifieur interne : 004D23 ( Main/Exploration ); précédent : 004D22; suivant : 004D24Italian family with cranial cervical dystonia: Clinical and genetic study
Auteurs : Emanuele Cassetta [Italie] ; Nicoletta Del Grosso [Italie] ; Anna Rita Bentivoglio [Italie] ; Enza Maria Valente [Italie, Royaume-Uni] ; Marina Frontali [Italie] ; Alberto Albanese [Italie, Suisse]Source :
- Movement Disorders [ 0885-3185 ] ; 1999-09.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, Cervical Vertebrae (physiopathology), Chromosome Aberrations (genetics), Chromosome Disorders, Chromosomes, Human, Pair 18 (genetics), Chromosomes, Human, Pair 8 (genetics), DNA Mutational Analysis, DYT1, DYT6, DYT7, Dystonia, Dystonic Disorders (genetics), Dystonic Disorders (physiopathology), Exploration, Family studies, Family study, Female, Gene Expression (genetics), Genetic Linkage, Genetics, Human, Humans, Italy, Linkage, Male, Microsatellite Repeats (genetics), Middle Aged, Pedigree, Phenotype, Point Mutation (genetics), Polymerase Chain Reaction (methods), Primary, Skull, Symptomatology, Torsion.
- MESH :
- geographic : Italy.
- genetics : Chromosome Aberrations, Chromosomes, Human, Pair 18, Chromosomes, Human, Pair 8, Dystonic Disorders, Gene Expression, Microsatellite Repeats, Point Mutation.
- methods : Polymerase Chain Reaction.
- physiopathology : Cervical Vertebrae, Dystonic Disorders.
- Adult, Aged, Aged, 80 and over, Chromosome Disorders, DNA Mutational Analysis, Female, Genetic Linkage, Humans, Male, Middle Aged, Pedigree, Skull.
Abstract
A white Italian family affected by primary torsion dystonia (PTD) is described. The family phenotype most commonly presented with adult onset, cranial cervical involvement, and focal or segmental distribution without progression to generalization. Thirty‐nine family members and nine spouses were studied. Five subjects received a diagnosis of definite PTD, three of probable PTD. Age at onset was in adulthood for all. In four definitely affected subjects, dystonia started in the cranial or cervical districts; in one it presented as writer's cramp. Familial writer's cramp also occurred in the family of the unrelated parent of the latter patient. The mean age at time of examination was 61.8 years in the individuals with a definite diagnosis; 60 in those with a probable diagnosis. At the time of examination, in most of the affected subjects, dystonia was focal; in three cases (two definitely and one probably affected), it was segmental. DNA linkage analysis, although limited by the size of the family, suggested exclusion of linkage between the disease and known PTD loci (DYT6 and DYT7). The GAG deletion in the DYT1 gene was excluded in the proband and in the family member affected by writer's cramp.
Url:
DOI: 10.1002/1531-8257(199909)14:5<820::AID-MDS1015>3.0.CO;2-I
Affiliations:
- Italie, Royaume-Uni, Suisse
- Angleterre, Canton de Vaud, Grand Londres, Latium
- Lausanne, Londres, Rome
- Université de Lausanne
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 001D86
- to stream Istex, to step Curation: 001D86
- to stream Istex, to step Checkpoint: 003490
- to stream Main, to step Merge: 007A22
- to stream PascalFrancis, to step Corpus: 002D53
- to stream PascalFrancis, to step Curation: 003A71
- to stream PascalFrancis, to step Checkpoint: 002D98
- to stream Main, to step Merge: 007C47
- to stream PubMed, to step Corpus: 004125
- to stream PubMed, to step Curation: 004125
- to stream PubMed, to step Checkpoint: 004189
- to stream Ncbi, to step Merge: 000126
- to stream Ncbi, to step Curation: 000126
- to stream Ncbi, to step Checkpoint: 000126
- to stream Main, to step Merge: 007796
- to stream Main, to step Curation: 004D23
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Italian family with cranial cervical dystonia: Clinical and genetic study</title><author><name sortKey="Cassetta, Emanuele" sort="Cassetta, Emanuele" uniqKey="Cassetta E" first="Emanuele" last="Cassetta">Emanuele Cassetta</name></author><author><name sortKey="Del Grosso, Nicoletta" sort="Del Grosso, Nicoletta" uniqKey="Del Grosso N" first="Nicoletta" last="Del Grosso">Nicoletta Del Grosso</name></author><author><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</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="Frontali, Marina" sort="Frontali, Marina" uniqKey="Frontali M" first="Marina" last="Frontali">Marina Frontali</name></author><author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:C95FD3741E338D98FC25BDE687ABE17250879137</idno><date when="1999" year="1999">1999</date><idno type="doi">10.1002/1531-8257(199909)14:5<820::AID-MDS1015>3.0.CO;2-I</idno><idno type="url">https://api.istex.fr/document/C95FD3741E338D98FC25BDE687ABE17250879137/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001D86</idno><idno type="wicri:Area/Istex/Curation">001D86</idno><idno type="wicri:Area/Istex/Checkpoint">003490</idno><idno type="wicri:doubleKey">0885-3185:1999:Cassetta E:italian:family:with</idno><idno type="wicri:Area/Main/Merge">007A22</idno><idno type="wicri:source">INIST</idno><idno type="RBID">Pascal:99-0475669</idno><idno type="wicri:Area/PascalFrancis/Corpus">002D53</idno><idno type="wicri:Area/PascalFrancis/Curation">003A71</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">002D98</idno><idno type="wicri:doubleKey">0885-3185:1999:Cassetta E:italian:family:with</idno><idno type="wicri:Area/Main/Merge">007C47</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:10495044</idno><idno type="wicri:Area/PubMed/Corpus">004125</idno><idno type="wicri:Area/PubMed/Curation">004125</idno><idno type="wicri:Area/PubMed/Checkpoint">004189</idno><idno type="wicri:Area/Ncbi/Merge">000126</idno><idno type="wicri:Area/Ncbi/Curation">000126</idno><idno type="wicri:Area/Ncbi/Checkpoint">000126</idno><idno type="wicri:doubleKey">0885-3185:1999:Cassetta E:italian:family:with</idno><idno type="wicri:Area/Main/Merge">007796</idno><idno type="wicri:Area/Main/Curation">004D23</idno><idno type="wicri:Area/Main/Exploration">004D23</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Italian family with cranial cervical dystonia: Clinical and genetic study</title><author><name sortKey="Cassetta, Emanuele" sort="Cassetta, Emanuele" uniqKey="Cassetta E" first="Emanuele" last="Cassetta">Emanuele Cassetta</name><affiliation wicri:level="3"><country>Italie</country><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName><wicri:orgArea>Istituto di Neurologia, Università Cattolica del Sacro Cuore</wicri:orgArea></affiliation></author><author><name sortKey="Del Grosso, Nicoletta" sort="Del Grosso, Nicoletta" uniqKey="Del Grosso N" first="Nicoletta" last="Del Grosso">Nicoletta Del Grosso</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Consiglio Nazionale delle Ricerche, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name><affiliation wicri:level="3"><country>Italie</country><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName><wicri:orgArea>Istituto di Neurologia, Università Cattolica del Sacro Cuore</wicri:orgArea></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>Italie</country><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName><wicri:orgArea>Istituto di Neurologia, Università Cattolica del Sacro Cuore</wicri:orgArea></affiliation><affiliation wicri:level="3"><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><wicri:orgArea>University Department of Clinical Neurology, Institute of Neurology</wicri:orgArea></affiliation></author><author><name sortKey="Frontali, Marina" sort="Frontali, Marina" uniqKey="Frontali M" first="Marina" last="Frontali">Marina Frontali</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Consiglio Nazionale delle Ricerche, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name><affiliation wicri:level="3"><country>Italie</country><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName><wicri:orgArea>Istituto di Neurologia, Università Cattolica del Sacro Cuore</wicri:orgArea></affiliation><affiliation wicri:level="4"><country xml:lang="fr">Suisse</country><wicri:regionArea>Service de Neurologie, Université de Lausanne, Lausanne</wicri:regionArea><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName><orgName type="university">Université de Lausanne</orgName></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>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><date type="published" when="1999-09">1999-09</date><biblScope unit="vol">14</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="820">820</biblScope><biblScope unit="page" to="825">825</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">C95FD3741E338D98FC25BDE687ABE17250879137</idno><idno type="DOI">10.1002/1531-8257(199909)14:5<820::AID-MDS1015>3.0.CO;2-I</idno><idno type="ArticleID">MDS1015</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Cervical Vertebrae (physiopathology)</term><term>Chromosome Aberrations (genetics)</term><term>Chromosome Disorders</term><term>Chromosomes, Human, Pair 18 (genetics)</term><term>Chromosomes, Human, Pair 8 (genetics)</term><term>DNA Mutational Analysis</term><term>DYT1</term><term>DYT6</term><term>DYT7</term><term>Dystonia</term><term>Dystonic Disorders (genetics)</term><term>Dystonic Disorders (physiopathology)</term><term>Exploration</term><term>Family studies</term><term>Family study</term><term>Female</term><term>Gene Expression (genetics)</term><term>Genetic Linkage</term><term>Genetics</term><term>Human</term><term>Humans</term><term>Italy</term><term>Linkage</term><term>Male</term><term>Microsatellite Repeats (genetics)</term><term>Middle Aged</term><term>Pedigree</term><term>Phenotype</term><term>Point Mutation (genetics)</term><term>Polymerase Chain Reaction (methods)</term><term>Primary</term><term>Skull</term><term>Symptomatology</term><term>Torsion</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Italy</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosome Aberrations</term><term>Chromosomes, Human, Pair 18</term><term>Chromosomes, Human, Pair 8</term><term>Dystonic Disorders</term><term>Gene Expression</term><term>Microsatellite Repeats</term><term>Point Mutation</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Polymerase Chain Reaction</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Cervical Vertebrae</term><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Chromosome Disorders</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genetic Linkage</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Skull</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Etude familiale</term><term>Exploration</term><term>Homme</term><term>Liaison génétique</term><term>Primaire</term><term>Symptomatologie</term><term>Torsion</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Italie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A white Italian family affected by primary torsion dystonia (PTD) is described. The family phenotype most commonly presented with adult onset, cranial cervical involvement, and focal or segmental distribution without progression to generalization. Thirty‐nine family members and nine spouses were studied. Five subjects received a diagnosis of definite PTD, three of probable PTD. Age at onset was in adulthood for all. In four definitely affected subjects, dystonia started in the cranial or cervical districts; in one it presented as writer's cramp. Familial writer's cramp also occurred in the family of the unrelated parent of the latter patient. The mean age at time of examination was 61.8 years in the individuals with a definite diagnosis; 60 in those with a probable diagnosis. At the time of examination, in most of the affected subjects, dystonia was focal; in three cases (two definitely and one probably affected), it was segmental. DNA linkage analysis, although limited by the size of the family, suggested exclusion of linkage between the disease and known PTD loci (DYT6 and DYT7). The GAG deletion in the DYT1 gene was excluded in the proband and in the family member affected by writer's cramp.</div></front></TEI><affiliations><list><country><li>Italie</li><li>Royaume-Uni</li><li>Suisse</li></country><region><li>Angleterre</li><li>Canton de Vaud</li><li>Grand Londres</li><li>Latium</li></region><settlement><li>Lausanne</li><li>Londres</li><li>Rome</li></settlement><orgName><li>Université de Lausanne</li></orgName></list><tree><country name="Italie"><region name="Latium"><name sortKey="Cassetta, Emanuele" sort="Cassetta, Emanuele" uniqKey="Cassetta E" first="Emanuele" last="Cassetta">Emanuele Cassetta</name></region><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name><name sortKey="Del Grosso, Nicoletta" sort="Del Grosso, Nicoletta" uniqKey="Del Grosso N" first="Nicoletta" last="Del Grosso">Nicoletta Del Grosso</name><name sortKey="Frontali, Marina" sort="Frontali, Marina" uniqKey="Frontali M" first="Marina" last="Frontali">Marina Frontali</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><country name="Suisse"><region name="Canton de Vaud"><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name></region></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 004D23 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 004D23 | 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:C95FD3741E338D98FC25BDE687ABE17250879137
|texte= Italian family with cranial cervical dystonia: Clinical and genetic study
}}
| This area was generated with Dilib version V0.6.23. |  |