Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene
Identifieur interne : 002700 ( PascalFrancis/Corpus ); précédent : 002699; suivant : 002701Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene
Auteurs : Sian D. Spacey ; Enza-Maria Valente ; Gurusidheshwar M. Wali ; Thomas T. Warner ; Paul R. Jarman ; Anthony H. V. Schapira ; Peter H. Dixon ; Mary B. Davis ; Kailash P. Bhatia ; Nicholas W. WoodSource :
- Movement disorders [ 0885-3185 ] ; 2002.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
Paroxysmal kinesigenic dyskinesia (PKD) is characterised by paroxysms of choreic, dystonic, ballistic, or athetoid movements. The attacks typically last seconds to minutes in duration and are induced by sudden voluntary movement. PKD loci have been identified on chromosome 16. We present the clinical and genetic details of two British and an Indian family with PKD. Linkage to the PKD loci on chromosome 16 has been excluded in one of these families, providing evidence for a third loci for PKD. Detailed clinical descriptions highlight the presence of both adolescent and infantile seizures in some of the PKD families. This study attempts to clarify the relationship of adolescent and infantile seizures to PKD and provides evidence that PKD is both genetically and clinically heterogeneous.
Notice en format standard (ISO 2709)
Pour connaître la documentation sur le format Inist Standard.
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Format Inist (serveur)
NO : | PASCAL 02-0456857 INIST |
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ET : | Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene |
AU : | SPACEY (Sian D.); VALENTE (Enza-Maria); WALI (Gurusidheshwar M.); WARNER (Thomas T.); JARMAN (Paul R.); SCHAPIRA (Anthony H. V.); DIXON (Peter H.); DAVIS (Mary B.); BHATIA (Kailash P.); WOOD (Nicholas W.) |
AF : | Department of Molecular Pothogenesis, Institute of Neurology, University College London/London/Royaume-Uni (1 aut., 2 aut., 5 aut., 7 aut., 8 aut., 9 aut., 10 aut.); Division of Neurology, University of British Columbia/Vancouver, British Columbia/Canada (1 aut.); Department of Neurology, Catholic University/Rome/Italie (2 aut.); Department of Neurology, Jawnharlal Nehru Medical Centre, KLE Society Hospital/Belguam, Karnataka/Inde (3 aut.); Royal Free and University College Medical School, University College London/London/Royaume-Uni (4 aut., 6 aut.) |
DT : | Publication en série; Niveau analytique |
SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2002; Vol. 17; No. 4; Pp. 717-725; Bibl. 33 ref. |
LA : | Anglais |
EA : | Paroxysmal kinesigenic dyskinesia (PKD) is characterised by paroxysms of choreic, dystonic, ballistic, or athetoid movements. The attacks typically last seconds to minutes in duration and are induced by sudden voluntary movement. PKD loci have been identified on chromosome 16. We present the clinical and genetic details of two British and an Indian family with PKD. Linkage to the PKD loci on chromosome 16 has been excluded in one of these families, providing evidence for a third loci for PKD. Detailed clinical descriptions highlight the presence of both adolescent and infantile seizures in some of the PKD families. This study attempts to clarify the relationship of adolescent and infantile seizures to PKD and provides evidence that PKD is both genetically and clinically heterogeneous. |
CC : | 002B17A01 |
FD : | Dyskinésie; Mouvement corporel; Brutal; Locus; Chromosome E16; Liaison génétique; Convulsion; Phénotype; Etude familiale; Déterminisme génétique; Homme; Gène EKD |
FG : | Système nerveux pathologie; Trouble neurologique; Mouvement involontaire; Extrapyramidal syndrome |
ED : | Dyskinesia; Body movement; Sudden; Locus; Chromosome E16; Linkage; Convulsion; Phenotype; Family study; Genetic determinism; Human |
EG : | Nervous system diseases; Neurological disorder; Involuntary movement; Extrapyramidal syndrome |
SD : | Disquinesia; Movimiento corporal; Súbito; Locus; Cromosoma E16; Ligamiento genético; Convulsión; Fenotipo; Estudio familiar; Determinismo genético; Hombre |
LO : | INIST-20953.354000108922560120 |
ID : | 02-0456857 |
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Pascal:02-0456857Le document en format XML
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<series><title level="j" type="main">Movement disorders</title>
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<front><div type="abstract" xml:lang="en">Paroxysmal kinesigenic dyskinesia (PKD) is characterised by paroxysms of choreic, dystonic, ballistic, or athetoid movements. The attacks typically last seconds to minutes in duration and are induced by sudden voluntary movement. PKD loci have been identified on chromosome 16. We present the clinical and genetic details of two British and an Indian family with PKD. Linkage to the PKD loci on chromosome 16 has been excluded in one of these families, providing evidence for a third loci for PKD. Detailed clinical descriptions highlight the presence of both adolescent and infantile seizures in some of the PKD families. This study attempts to clarify the relationship of adolescent and infantile seizures to PKD and provides evidence that PKD is both genetically and clinically heterogeneous.</div>
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<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Dyskinesia</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Disquinesia</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Mouvement corporel</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Body movement</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Movimiento corporal</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Brutal</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Sudden</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Súbito</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Locus</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Locus</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Locus</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Chromosome E16</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Chromosome E16</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Cromosoma E16</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Liaison génétique</s0>
<s5>07</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Linkage</s0>
<s5>07</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Ligamiento genético</s0>
<s5>07</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Convulsion</s0>
<s5>10</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Convulsion</s0>
<s5>10</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Convulsión</s0>
<s5>10</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Phénotype</s0>
<s5>11</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Phenotype</s0>
<s5>11</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Fenotipo</s0>
<s5>11</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Etude familiale</s0>
<s5>17</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Family study</s0>
<s5>17</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Estudio familiar</s0>
<s5>17</s5>
</fC03>
<fC03 i1="10" i2="X" l="FRE"><s0>Déterminisme génétique</s0>
<s5>18</s5>
</fC03>
<fC03 i1="10" i2="X" l="ENG"><s0>Genetic determinism</s0>
<s5>18</s5>
</fC03>
<fC03 i1="10" i2="X" l="SPA"><s0>Determinismo genético</s0>
<s5>18</s5>
</fC03>
<fC03 i1="11" i2="X" l="FRE"><s0>Homme</s0>
<s5>20</s5>
</fC03>
<fC03 i1="11" i2="X" l="ENG"><s0>Human</s0>
<s5>20</s5>
</fC03>
<fC03 i1="11" i2="X" l="SPA"><s0>Hombre</s0>
<s5>20</s5>
</fC03>
<fC03 i1="12" i2="X" l="FRE"><s0>Gène EKD</s0>
<s4>INC</s4>
<s5>86</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>40</s5>
</fC07>
<fN21><s1>266</s1>
</fN21>
<fN82><s1>PSI</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 02-0456857 INIST</NO>
<ET>Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene</ET>
<AU>SPACEY (Sian D.); VALENTE (Enza-Maria); WALI (Gurusidheshwar M.); WARNER (Thomas T.); JARMAN (Paul R.); SCHAPIRA (Anthony H. V.); DIXON (Peter H.); DAVIS (Mary B.); BHATIA (Kailash P.); WOOD (Nicholas W.)</AU>
<AF>Department of Molecular Pothogenesis, Institute of Neurology, University College London/London/Royaume-Uni (1 aut., 2 aut., 5 aut., 7 aut., 8 aut., 9 aut., 10 aut.); Division of Neurology, University of British Columbia/Vancouver, British Columbia/Canada (1 aut.); Department of Neurology, Catholic University/Rome/Italie (2 aut.); Department of Neurology, Jawnharlal Nehru Medical Centre, KLE Society Hospital/Belguam, Karnataka/Inde (3 aut.); Royal Free and University College Medical School, University College London/London/Royaume-Uni (4 aut., 6 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2002; Vol. 17; No. 4; Pp. 717-725; Bibl. 33 ref.</SO>
<LA>Anglais</LA>
<EA>Paroxysmal kinesigenic dyskinesia (PKD) is characterised by paroxysms of choreic, dystonic, ballistic, or athetoid movements. The attacks typically last seconds to minutes in duration and are induced by sudden voluntary movement. PKD loci have been identified on chromosome 16. We present the clinical and genetic details of two British and an Indian family with PKD. Linkage to the PKD loci on chromosome 16 has been excluded in one of these families, providing evidence for a third loci for PKD. Detailed clinical descriptions highlight the presence of both adolescent and infantile seizures in some of the PKD families. This study attempts to clarify the relationship of adolescent and infantile seizures to PKD and provides evidence that PKD is both genetically and clinically heterogeneous.</EA>
<CC>002B17A01</CC>
<FD>Dyskinésie; Mouvement corporel; Brutal; Locus; Chromosome E16; Liaison génétique; Convulsion; Phénotype; Etude familiale; Déterminisme génétique; Homme; Gène EKD</FD>
<FG>Système nerveux pathologie; Trouble neurologique; Mouvement involontaire; Extrapyramidal syndrome</FG>
<ED>Dyskinesia; Body movement; Sudden; Locus; Chromosome E16; Linkage; Convulsion; Phenotype; Family study; Genetic determinism; Human</ED>
<EG>Nervous system diseases; Neurological disorder; Involuntary movement; Extrapyramidal syndrome</EG>
<SD>Disquinesia; Movimiento corporal; Súbito; Locus; Cromosoma E16; Ligamiento genético; Convulsión; Fenotipo; Estudio familiar; Determinismo genético; Hombre</SD>
<LO>INIST-20953.354000108922560120</LO>
<ID>02-0456857</ID>
</server>
</inist>
</record>
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