Italian family with cranial cervical dystonia: clinical and genetic study.
Identifieur interne : 000126 ( Ncbi/Curation ); précédent : 000125; suivant : 000127Italian family with cranial cervical dystonia: clinical and genetic study.
Auteurs : E. Cassetta [Italie] ; N. Del Grosso ; A R Bentivoglio ; E M Valente ; M. Frontali ; A. AlbaneseSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 1999.
Descripteurs français
- Wicri :
- geographic : Italie.
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, Dystonic Disorders (genetics), Dystonic Disorders (physiopathology), Female, Gene Expression (genetics), Genetic Linkage, Humans, Italy, Male, Microsatellite Repeats (genetics), Middle Aged, Pedigree, Point Mutation (genetics), Polymerase Chain Reaction (methods), Skull.
- 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.
PubMed: 10495044
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Italian family with cranial cervical dystonia: clinical and genetic study.</title><author><name sortKey="Cassetta, E" sort="Cassetta, E" uniqKey="Cassetta E" first="E" last="Cassetta">E. Cassetta</name><affiliation wicri:level="3"><nlm:affiliation>Istituto di Neurologia, Università Cattolica del Sacro Cuore, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Neurologia, Università Cattolica del Sacro Cuore, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Del Grosso, N" sort="Del Grosso, N" uniqKey="Del Grosso N" first="N" last="Del Grosso">N. Del Grosso</name></author><author><name sortKey="Bentivoglio, A R" sort="Bentivoglio, A R" uniqKey="Bentivoglio A" first="A R" last="Bentivoglio">A R Bentivoglio</name></author><author><name sortKey="Valente, E M" sort="Valente, E M" uniqKey="Valente E" first="E M" last="Valente">E M Valente</name></author><author><name sortKey="Frontali, M" sort="Frontali, M" uniqKey="Frontali M" first="M" last="Frontali">M. Frontali</name></author><author><name sortKey="Albanese, A" sort="Albanese, A" uniqKey="Albanese A" first="A" last="Albanese">A. Albanese</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1999">1999</date><idno type="RBID">pubmed:10495044</idno><idno type="pmid">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></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Italian family with cranial cervical dystonia: clinical and genetic study.</title><author><name sortKey="Cassetta, E" sort="Cassetta, E" uniqKey="Cassetta E" first="E" last="Cassetta">E. Cassetta</name><affiliation wicri:level="3"><nlm:affiliation>Istituto di Neurologia, Università Cattolica del Sacro Cuore, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Neurologia, Università Cattolica del Sacro Cuore, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Del Grosso, N" sort="Del Grosso, N" uniqKey="Del Grosso N" first="N" last="Del Grosso">N. Del Grosso</name></author><author><name sortKey="Bentivoglio, A R" sort="Bentivoglio, A R" uniqKey="Bentivoglio A" first="A R" last="Bentivoglio">A R Bentivoglio</name></author><author><name sortKey="Valente, E M" sort="Valente, E M" uniqKey="Valente E" first="E M" last="Valente">E M Valente</name></author><author><name sortKey="Frontali, M" sort="Frontali, M" uniqKey="Frontali M" first="M" last="Frontali">M. Frontali</name></author><author><name sortKey="Albanese, A" sort="Albanese, A" uniqKey="Albanese A" first="A" last="Albanese">A. Albanese</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="1999" type="published">1999</date></imprint></series></biblStruct></sourceDesc></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>Dystonic Disorders (genetics)</term><term>Dystonic Disorders (physiopathology)</term><term>Female</term><term>Gene Expression (genetics)</term><term>Genetic Linkage</term><term>Humans</term><term>Italy</term><term>Male</term><term>Microsatellite Repeats (genetics)</term><term>Middle Aged</term><term>Pedigree</term><term>Point Mutation (genetics)</term><term>Polymerase Chain Reaction (methods)</term><term>Skull</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="Wicri" type="geographic" xml:lang="fr"><term>Italie</term></keywords></textClass></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></record>Pour manipuler ce document sous Unix (Dilib)
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