Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia.
Identifieur interne : 000736 ( Ncbi/Curation ); précédent : 000735; suivant : 000737Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia.
Auteurs : Francesco Brancati [Italie] ; Giovanni Defazio ; Viviana Caputo ; Enza Maria Valente ; Antonio Pizzuti ; Paolo Livrea ; Alfredo Berardelli ; Bruno DallapiccolaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2002.
English descriptors
- KwdEn :
- Adult, Aged, Chromosome Aberrations, Chromosome Mapping, Dystonia Musculorum Deformans (diagnosis), Dystonia Musculorum Deformans (genetics), Female, Genes, Dominant, Genetic Heterogeneity, Genetic Markers (genetics), Humans, Lod Score, Male, Middle Aged, Neurologic Examination, Pedigree, Phenotype, Torticollis (diagnosis), Torticollis (genetics).
- MESH :
- chemical , genetics : Genetic Markers.
- diagnosis : Dystonia Musculorum Deformans, Torticollis.
- genetics : Dystonia Musculorum Deformans, Torticollis.
- Adult, Aged, Chromosome Aberrations, Chromosome Mapping, Female, Genes, Dominant, Genetic Heterogeneity, Humans, Lod Score, Male, Middle Aged, Neurologic Examination, Pedigree, Phenotype.
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 (DYT1, DYT6, DYT7, and DYT13), and the 3-bp deletion in the DYT1 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.
PubMed: 11921130
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Mendel, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Defazio, Giovanni" sort="Defazio, Giovanni" uniqKey="Defazio G" first="Giovanni" last="Defazio">Giovanni Defazio</name></author><author><name sortKey="Caputo, Viviana" sort="Caputo, Viviana" uniqKey="Caputo V" first="Viviana" last="Caputo">Viviana Caputo</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="Pizzuti, Antonio" sort="Pizzuti, Antonio" uniqKey="Pizzuti A" first="Antonio" last="Pizzuti">Antonio Pizzuti</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">PubMed</idno><date when="2002">2002</date><idno type="RBID">pubmed:11921130</idno><idno type="pmid">11921130</idno><idno type="wicri:Area/PubMed/Corpus">003B15</idno><idno type="wicri:Area/PubMed/Curation">003B15</idno><idno type="wicri:Area/PubMed/Checkpoint">003A06</idno><idno type="wicri:Area/Ncbi/Merge">000736</idno><idno type="wicri:Area/Ncbi/Curation">000736</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia.</title><author><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name><affiliation wicri:level="3"><nlm:affiliation>Istituto C.S.S. Mendel, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto C.S.S. Mendel, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Defazio, Giovanni" sort="Defazio, Giovanni" uniqKey="Defazio G" first="Giovanni" last="Defazio">Giovanni Defazio</name></author><author><name sortKey="Caputo, Viviana" sort="Caputo, Viviana" uniqKey="Caputo V" first="Viviana" last="Caputo">Viviana Caputo</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="Pizzuti, Antonio" sort="Pizzuti, Antonio" uniqKey="Pizzuti A" first="Antonio" last="Pizzuti">Antonio Pizzuti</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></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2002" type="published">2002</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Chromosome Aberrations</term><term>Chromosome Mapping</term><term>Dystonia Musculorum Deformans (diagnosis)</term><term>Dystonia Musculorum Deformans (genetics)</term><term>Female</term><term>Genes, Dominant</term><term>Genetic Heterogeneity</term><term>Genetic Markers (genetics)</term><term>Humans</term><term>Lod Score</term><term>Male</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Pedigree</term><term>Phenotype</term><term>Torticollis (diagnosis)</term><term>Torticollis (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Genetic Markers</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonia Musculorum Deformans</term><term>Torticollis</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia Musculorum Deformans</term><term>Torticollis</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Chromosome Aberrations</term><term>Chromosome Mapping</term><term>Female</term><term>Genes, Dominant</term><term>Genetic Heterogeneity</term><term>Humans</term><term>Lod Score</term><term>Male</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Pedigree</term><term>Phenotype</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 (DYT1, DYT6, DYT7, and DYT13), and the 3-bp deletion in the DYT1 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></record>Pour manipuler ce document sous Unix (Dilib)
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