Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene.
Identifieur interne : 003A74 ( PubMed/Checkpoint ); précédent : 003A73; suivant : 003A75Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene.
Auteurs : Sian D. Spacey [Royaume-Uni] ; 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 : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2002.
English descriptors
- KwdEn :
- Adolescent, Adult, Athetosis (diagnosis), Athetosis (genetics), Child, Chorea (diagnosis), Chorea (genetics), Chromosome Aberrations, Chromosome Mapping, Chromosomes, Human, Pair 16, Dystonic Disorders (diagnosis), Dystonic Disorders (genetics), Female, Genes, Dominant (genetics), Genetic Heterogeneity, Genetic Markers (genetics), Humans, Infant, Lod Score, Male, Middle Aged, Motor Activity (genetics), Pedigree, Phenotype, Polymerase Chain Reaction, Spasms, Infantile (diagnosis), Spasms, Infantile (genetics).
- MESH :
- chemical , genetics : Genetic Markers.
- diagnosis : Athetosis, Chorea, Dystonic Disorders, Spasms, Infantile.
- genetics : Athetosis, Chorea, Dystonic Disorders, Genes, Dominant, Motor Activity, Spasms, Infantile.
- Adolescent, Adult, Child, Chromosome Aberrations, Chromosome Mapping, Chromosomes, Human, Pair 16, Female, Genetic Heterogeneity, Humans, Infant, Lod Score, Male, Middle Aged, Pedigree, Phenotype, Polymerase Chain Reaction.
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.
DOI: 10.1002/mds.10126
PubMed: 12210861
Affiliations:
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pubmed:12210861Le document en format XML
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<term>Child</term>
<term>Chorea (diagnosis)</term>
<term>Chorea (genetics)</term>
<term>Chromosome Aberrations</term>
<term>Chromosome Mapping</term>
<term>Chromosomes, Human, Pair 16</term>
<term>Dystonic Disorders (diagnosis)</term>
<term>Dystonic Disorders (genetics)</term>
<term>Female</term>
<term>Genes, Dominant (genetics)</term>
<term>Genetic Heterogeneity</term>
<term>Genetic Markers (genetics)</term>
<term>Humans</term>
<term>Infant</term>
<term>Lod Score</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Motor Activity (genetics)</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Polymerase Chain Reaction</term>
<term>Spasms, Infantile (diagnosis)</term>
<term>Spasms, Infantile (genetics)</term>
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<term>Chromosomes, Human, Pair 16</term>
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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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<Abstract><AbstractText>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.</AbstractText>
<CopyrightInformation>Copyright 2002 Movement Disorder Society</CopyrightInformation>
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<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Spacey, Sian D" sort="Spacey, Sian D" uniqKey="Spacey S" first="Sian D" last="Spacey">Sian D. Spacey</name>
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