A yorkshire family with adult-onset cranio-cervical primary torsion dystonia
Identifieur interne : 002B55 ( PascalFrancis/Corpus ); précédent : 002B54; suivant : 002B56A yorkshire family with adult-onset cranio-cervical primary torsion dystonia
Auteurs : A. Münchau ; E. M. Valente ; M. B. Davis ; V. Stinton ; N. W. Wood ; N. P. Quinn ; Kailash P. BhatiaSource :
- Movement disorders [ 0885-3185 ] ; 2000.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
Although a family history is described in approximately 20% of patients, large families with adult-onset cranio-cervical primary (idiopathic) torsion dystonia (PTD) are rare. We report a new British family with cranio-cervical dystonia. Seventeen members of the family were examined. Five cases were diagnosed as definite PTD and one as probable PTD. Mean age at onset was 29 years (range, 1940 yrs). The phenotype was characterized by adult-onset cranio-cervical dystonia in all affected cases. A few cases had additional voice tremor and/or postural arm tremor. The GAG deletion in the DYT1 gene was excluded in the index case. Linkage analysis was performed between the disease and several marker loci spanning DYT6 and DYT7 regions, and haplotypes were reconstructed in all subjects. Although linkage analysis was not completely informative, reconstructed haplotypes excluded linkage between the disease and either DYT6 or DYT7. This report confirms that familial cranio-cervical dystonia is genetically heterogeneous, and further studies of other PTD families with similar clinical features are needed to identify other new genes.
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Pour connaître la documentation sur le format Inist Standard.
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Format Inist (serveur)
NO : | PASCAL 00-0480418 INIST |
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ET : | A yorkshire family with adult-onset cranio-cervical primary torsion dystonia |
AU : | MÜNCHAU (A.); VALENTE (E. M.); DAVIS (M. B.); STINTON (V.); WOOD (N. W.); QUINN (N. P.); BHATIA (Kailash P.) |
AF : | Department of Clinical Neurology, Institute of Neurology, University College of London/London/Royaume-Uni (1 aut., 2 aut., 3 aut., 4 aut., 5 aut., 6 aut., 7 aut.) |
DT : | Publication en série; Niveau analytique |
SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2000; Vol. 15; No. 5; Pp. 954-959; Bibl. 27 ref. |
LA : | Anglais |
EA : | Although a family history is described in approximately 20% of patients, large families with adult-onset cranio-cervical primary (idiopathic) torsion dystonia (PTD) are rare. We report a new British family with cranio-cervical dystonia. Seventeen members of the family were examined. Five cases were diagnosed as definite PTD and one as probable PTD. Mean age at onset was 29 years (range, 1940 yrs). The phenotype was characterized by adult-onset cranio-cervical dystonia in all affected cases. A few cases had additional voice tremor and/or postural arm tremor. The GAG deletion in the DYT1 gene was excluded in the index case. Linkage analysis was performed between the disease and several marker loci spanning DYT6 and DYT7 regions, and haplotypes were reconstructed in all subjects. Although linkage analysis was not completely informative, reconstructed haplotypes excluded linkage between the disease and either DYT6 or DYT7. This report confirms that familial cranio-cervical dystonia is genetically heterogeneous, and further studies of other PTD families with similar clinical features are needed to identify other new genes. |
CC : | 002B17H |
FD : | Dystonie musculaire déformante; Torsion; Phénotype; Liaison génétique; Age apparition; Etude familiale; Diagnostic; Déterminisme génétique; Adulte |
FG : | Homme; Système nerveux pathologie; Système nerveux central pathologie; Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative; Maladie héréditaire; Génétique |
ED : | Dystonia musculorum deformans; Torsion; Phenotype; Linkage; Age of onset; Family study; Diagnosis; Genetic determinism; Adult |
EG : | Human; Nervous system diseases; Central nervous system disease; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Genetic disease; Genetics |
SD : | Distonía muscular deformante; Torsión; Fenotipo; Ligamiento genético; Edad aparición; Estudio familiar; Diagnóstico; Determinismo genético; Adulto |
LO : | INIST-20953.354000091356830270 |
ID : | 00-0480418 |
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Pascal:00-0480418Le document en format XML
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<front><div type="abstract" xml:lang="en">Although a family history is described in approximately 20% of patients, large families with adult-onset cranio-cervical primary (idiopathic) torsion dystonia (PTD) are rare. We report a new British family with cranio-cervical dystonia. Seventeen members of the family were examined. Five cases were diagnosed as definite PTD and one as probable PTD. Mean age at onset was 29 years (range, 1940 yrs). The phenotype was characterized by adult-onset cranio-cervical dystonia in all affected cases. A few cases had additional voice tremor and/or postural arm tremor. The GAG deletion in the DYT1 gene was excluded in the index case. Linkage analysis was performed between the disease and several marker loci spanning DYT6 and DYT7 regions, and haplotypes were reconstructed in all subjects. Although linkage analysis was not completely informative, reconstructed haplotypes excluded linkage between the disease and either DYT6 or DYT7. This report confirms that familial cranio-cervical dystonia is genetically heterogeneous, and further studies of other PTD families with similar clinical features are needed to identify other new genes.</div>
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<s5>40</s5>
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<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>41</s5>
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<s5>41</s5>
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<s5>42</s5>
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<fC07 i1="07" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>42</s5>
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<s5>53</s5>
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<server><NO>PASCAL 00-0480418 INIST</NO>
<ET>A yorkshire family with adult-onset cranio-cervical primary torsion dystonia</ET>
<AU>MÜNCHAU (A.); VALENTE (E. M.); DAVIS (M. B.); STINTON (V.); WOOD (N. W.); QUINN (N. P.); BHATIA (Kailash P.)</AU>
<AF>Department of Clinical Neurology, Institute of Neurology, University College of London/London/Royaume-Uni (1 aut., 2 aut., 3 aut., 4 aut., 5 aut., 6 aut., 7 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2000; Vol. 15; No. 5; Pp. 954-959; Bibl. 27 ref.</SO>
<LA>Anglais</LA>
<EA>Although a family history is described in approximately 20% of patients, large families with adult-onset cranio-cervical primary (idiopathic) torsion dystonia (PTD) are rare. We report a new British family with cranio-cervical dystonia. Seventeen members of the family were examined. Five cases were diagnosed as definite PTD and one as probable PTD. Mean age at onset was 29 years (range, 1940 yrs). The phenotype was characterized by adult-onset cranio-cervical dystonia in all affected cases. A few cases had additional voice tremor and/or postural arm tremor. The GAG deletion in the DYT1 gene was excluded in the index case. Linkage analysis was performed between the disease and several marker loci spanning DYT6 and DYT7 regions, and haplotypes were reconstructed in all subjects. Although linkage analysis was not completely informative, reconstructed haplotypes excluded linkage between the disease and either DYT6 or DYT7. This report confirms that familial cranio-cervical dystonia is genetically heterogeneous, and further studies of other PTD families with similar clinical features are needed to identify other new genes.</EA>
<CC>002B17H</CC>
<FD>Dystonie musculaire déformante; Torsion; Phénotype; Liaison génétique; Age apparition; Etude familiale; Diagnostic; Déterminisme génétique; Adulte</FD>
<FG>Homme; Système nerveux pathologie; Système nerveux central pathologie; Encéphale pathologie; Extrapyramidal syndrome; Maladie dégénérative; Maladie héréditaire; Génétique</FG>
<ED>Dystonia musculorum deformans; Torsion; Phenotype; Linkage; Age of onset; Family study; Diagnosis; Genetic determinism; Adult</ED>
<EG>Human; Nervous system diseases; Central nervous system disease; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Genetic disease; Genetics</EG>
<SD>Distonía muscular deformante; Torsión; Fenotipo; Ligamiento genético; Edad aparición; Estudio familiar; Diagnóstico; Determinismo genético; Adulto</SD>
<LO>INIST-20953.354000091356830270</LO>
<ID>00-0480418</ID>
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