Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene.
Identifieur interne : 003A20 ( PubMed/Curation ); précédent : 003A19; suivant : 003A21Genetic 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
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Wali</name></author><author><name sortKey="Warner, Thomas T" sort="Warner, Thomas T" uniqKey="Warner T" first="Thomas T" last="Warner">Thomas T. Warner</name></author><author><name sortKey="Jarman, Paul R" sort="Jarman, Paul R" uniqKey="Jarman P" first="Paul R" last="Jarman">Paul R. Jarman</name></author><author><name sortKey="Schapira, Anthony H V" sort="Schapira, Anthony H V" uniqKey="Schapira A" first="Anthony H V" last="Schapira">Anthony H V. Schapira</name></author><author><name sortKey="Dixon, Peter H" sort="Dixon, Peter H" uniqKey="Dixon P" first="Peter H" last="Dixon">Peter H. Dixon</name></author><author><name sortKey="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B" last="Davis">Mary B. Davis</name></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. 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Spacey</name><affiliation wicri:level="1"><nlm:affiliation>Department of Molecular Pathogenesis, Institute of Neurology, University College London, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Pathogenesis, Institute of Neurology, University College London, London</wicri:regionArea></affiliation></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="Wali, Gurusidheshwar M" sort="Wali, Gurusidheshwar M" uniqKey="Wali G" first="Gurusidheshwar M" last="Wali">Gurusidheshwar M. Wali</name></author><author><name sortKey="Warner, Thomas T" sort="Warner, Thomas T" uniqKey="Warner T" first="Thomas T" last="Warner">Thomas T. Warner</name></author><author><name sortKey="Jarman, Paul R" sort="Jarman, Paul R" uniqKey="Jarman P" first="Paul R" last="Jarman">Paul R. Jarman</name></author><author><name sortKey="Schapira, Anthony H V" sort="Schapira, Anthony H V" uniqKey="Schapira A" first="Anthony H V" last="Schapira">Anthony H V. Schapira</name></author><author><name sortKey="Dixon, Peter H" sort="Dixon, Peter H" uniqKey="Dixon P" first="Peter H" last="Dixon">Peter H. Dixon</name></author><author><name sortKey="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B" last="Davis">Mary B. Davis</name></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</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>Adolescent</term><term>Adult</term><term>Athetosis (diagnosis)</term><term>Athetosis (genetics)</term><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></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>Athetosis</term><term>Chorea</term><term>Dystonic Disorders</term><term>Spasms, Infantile</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Athetosis</term><term>Chorea</term><term>Dystonic Disorders</term><term>Genes, Dominant</term><term>Motor Activity</term><term>Spasms, Infantile</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Chromosome Aberrations</term><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 16</term><term>Female</term><term>Genetic Heterogeneity</term><term>Humans</term><term>Infant</term><term>Lod Score</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Phenotype</term><term>Polymerase Chain Reaction</term></keywords></textClass></profileDesc></teiHeader><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></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">12210861</PMID><DateCreated><Year>2002</Year><Month>09</Month><Day>04</Day></DateCreated><DateCompleted><Year>2002</Year><Month>11</Month><Day>20</Day></DateCompleted><DateRevised><Year>2007</Year><Month>11</Month><Day>15</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>17</Volume><Issue>4</Issue><PubDate><Year>2002</Year><Month>Jul</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene.</ArticleTitle><Pagination><MedlinePgn>717-25</MedlinePgn></Pagination><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></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Spacey</LastName><ForeName>Sian D</ForeName><Initials>SD</Initials><AffiliationInfo><Affiliation>Department of Molecular Pathogenesis, Institute of Neurology, University College London, London, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Valente</LastName><ForeName>Enza-Maria</ForeName><Initials>EM</Initials></Author><Author ValidYN="Y"><LastName>Wali</LastName><ForeName>Gurusidheshwar M</ForeName><Initials>GM</Initials></Author><Author ValidYN="Y"><LastName>Warner</LastName><ForeName>Thomas T</ForeName><Initials>TT</Initials></Author><Author ValidYN="Y"><LastName>Jarman</LastName><ForeName>Paul R</ForeName><Initials>PR</Initials></Author><Author ValidYN="Y"><LastName>Schapira</LastName><ForeName>Anthony H V</ForeName><Initials>AH</Initials></Author><Author ValidYN="Y"><LastName>Dixon</LastName><ForeName>Peter H</ForeName><Initials>PH</Initials></Author><Author ValidYN="Y"><LastName>Davis</LastName><ForeName>Mary B</ForeName><Initials>MB</Initials></Author><Author ValidYN="Y"><LastName>Bhatia</LastName><ForeName>Kailash P</ForeName><Initials>KP</Initials></Author><Author ValidYN="Y"><LastName>Wood</LastName><ForeName>Nicholas W</ForeName><Initials>NW</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D005819">Genetic Markers</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001264">Athetosis</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002648">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002819">Chorea</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002869">Chromosome Aberrations</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002874">Chromosome Mapping</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002885">Chromosomes, Human, Pair 16</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020821">Dystonic Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005799">Genes, Dominant</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D018740">Genetic Heterogeneity</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005819">Genetic Markers</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007223">Infant</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008126">Lod Score</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009043">Motor Activity</DescriptorName><QualifierName MajorTopicYN="N" 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