Paroxysmal dystonic choreoathetosis: clinical features and investigation of pathophysiology in a large family.
Identifieur interne : 000300 ( Ncbi/Merge ); précédent : 000299; suivant : 000301Paroxysmal dystonic choreoathetosis: clinical features and investigation of pathophysiology in a large family.
Auteurs : P R Jarman [Royaume-Uni] ; K P Bhatia ; C. Davie ; S J Heales ; N. Turjanski ; S D Taylor-Robinson ; C D Marsden ; N W WoodSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2000.
English descriptors
- KwdEn :
- Adult, Athetosis (diagnosis), Athetosis (genetics), Athetosis (physiopathology), Brain (physiopathology), Chorea (diagnosis), Chorea (genetics), Chorea (physiopathology), Chromosomes, Human, Pair 2, Diagnostic Imaging, Dopamine (physiology), Female, Genes, Dominant (genetics), Humans, Male, Pedigree, Receptors, Dopamine D2 (physiology).
- MESH :
- chemical , physiology : Dopamine, Receptors, Dopamine D2.
- diagnosis : Athetosis, Chorea.
- genetics : Athetosis, Chorea, Genes, Dominant.
- physiopathology : Athetosis, Brain, Chorea.
- Adult, Chromosomes, Human, Pair 2, Diagnostic Imaging, Female, Humans, Male, Pedigree.
Abstract
Paroxysmal dystonic choreoathetosis (PDC) is an unusual hyperkinetic movement disorder characterized by attacks of chorea, dystonia, and ballism with onset in childhood. We report a large British family with dominantly inherited PDC linked to chromosome 2q and describe the clinical features in 20 affected family members. Attacks were precipitated by a variety of factors, including caffeine, alcohol, or emotion, and could be relieved by short periods of sleep in most subjects. The clinical features in the family are compared with those of 11 other PDC families in the literature and a core phenotype for PDC suggested. CSF monoamine metabolites measured at baseline and during an attack in one subject were found to increase during the attack. Magnetic resonance spectroscopy of brain and basal ganglia performed both during and between attacks was normal. Positron emission tomography using the D2 receptor ligand, 11C-raclopride, showed no abnormalities.
PubMed: 10928574
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Davie</name></author><author><name sortKey="Heales, S J" sort="Heales, S J" uniqKey="Heales S" first="S J" last="Heales">S J Heales</name></author><author><name sortKey="Turjanski, N" sort="Turjanski, N" uniqKey="Turjanski N" first="N" last="Turjanski">N. Turjanski</name></author><author><name sortKey="Taylor Robinson, S D" sort="Taylor Robinson, S D" uniqKey="Taylor Robinson S" first="S D" last="Taylor-Robinson">S D Taylor-Robinson</name></author><author><name sortKey="Marsden, C D" sort="Marsden, C D" uniqKey="Marsden C" first="C D" last="Marsden">C D Marsden</name></author><author><name sortKey="Wood, N W" sort="Wood, N W" uniqKey="Wood N" first="N W" last="Wood">N W Wood</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2000">2000</date><idno type="RBID">pubmed:10928574</idno><idno type="pmid">10928574</idno><idno type="wicri:Area/PubMed/Corpus">003F51</idno><idno type="wicri:Area/PubMed/Curation">003F51</idno><idno type="wicri:Area/PubMed/Checkpoint">003F16</idno><idno type="wicri:Area/Ncbi/Merge">000300</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Paroxysmal dystonic choreoathetosis: clinical features and investigation of pathophysiology in a large family.</title><author><name sortKey="Jarman, P R" sort="Jarman, P R" uniqKey="Jarman P" first="P R" last="Jarman">P R Jarman</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Neurology, Institute of Neurology, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Neurology, Institute of Neurology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Bhatia, K P" sort="Bhatia, K P" uniqKey="Bhatia K" first="K P" last="Bhatia">K P Bhatia</name></author><author><name sortKey="Davie, C" sort="Davie, C" uniqKey="Davie C" first="C" last="Davie">C. Davie</name></author><author><name sortKey="Heales, S J" sort="Heales, S J" uniqKey="Heales S" first="S J" last="Heales">S J Heales</name></author><author><name sortKey="Turjanski, N" sort="Turjanski, N" uniqKey="Turjanski N" first="N" last="Turjanski">N. Turjanski</name></author><author><name sortKey="Taylor Robinson, S D" sort="Taylor Robinson, S D" uniqKey="Taylor Robinson S" first="S D" last="Taylor-Robinson">S D Taylor-Robinson</name></author><author><name sortKey="Marsden, C D" sort="Marsden, C D" uniqKey="Marsden C" first="C D" last="Marsden">C D Marsden</name></author><author><name sortKey="Wood, N W" sort="Wood, N W" uniqKey="Wood N" first="N W" last="Wood">N 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="2000" type="published">2000</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Athetosis (diagnosis)</term><term>Athetosis (genetics)</term><term>Athetosis (physiopathology)</term><term>Brain (physiopathology)</term><term>Chorea (diagnosis)</term><term>Chorea (genetics)</term><term>Chorea (physiopathology)</term><term>Chromosomes, Human, Pair 2</term><term>Diagnostic Imaging</term><term>Dopamine (physiology)</term><term>Female</term><term>Genes, Dominant (genetics)</term><term>Humans</term><term>Male</term><term>Pedigree</term><term>Receptors, Dopamine D2 (physiology)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="physiology" xml:lang="en"><term>Dopamine</term><term>Receptors, Dopamine D2</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Athetosis</term><term>Chorea</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Athetosis</term><term>Chorea</term><term>Genes, Dominant</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Athetosis</term><term>Brain</term><term>Chorea</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Chromosomes, Human, Pair 2</term><term>Diagnostic Imaging</term><term>Female</term><term>Humans</term><term>Male</term><term>Pedigree</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Paroxysmal dystonic choreoathetosis (PDC) is an unusual hyperkinetic movement disorder characterized by attacks of chorea, dystonia, and ballism with onset in childhood. We report a large British family with dominantly inherited PDC linked to chromosome 2q and describe the clinical features in 20 affected family members. Attacks were precipitated by a variety of factors, including caffeine, alcohol, or emotion, and could be relieved by short periods of sleep in most subjects. The clinical features in the family are compared with those of 11 other PDC families in the literature and a core phenotype for PDC suggested. CSF monoamine metabolites measured at baseline and during an attack in one subject were found to increase during the attack. Magnetic resonance spectroscopy of brain and basal ganglia performed both during and between attacks was normal. Positron emission tomography using the D2 receptor ligand, 11C-raclopride, showed no abnormalities.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">10928574</PMID><DateCreated><Year>2001</Year><Month>01</Month><Day>11</Day></DateCreated><DateCompleted><Year>2001</Year><Month>01</Month><Day>11</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>15</Volume><Issue>4</Issue><PubDate><Year>2000</Year><Month>Jul</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Paroxysmal dystonic choreoathetosis: clinical features and investigation of pathophysiology in a large family.</ArticleTitle><Pagination><MedlinePgn>648-57</MedlinePgn></Pagination><Abstract><AbstractText>Paroxysmal dystonic choreoathetosis (PDC) is an unusual hyperkinetic movement disorder characterized by attacks of chorea, dystonia, and ballism with onset in childhood. We report a large British family with dominantly inherited PDC linked to chromosome 2q and describe the clinical features in 20 affected family members. Attacks were precipitated by a variety of factors, including caffeine, alcohol, or emotion, and could be relieved by short periods of sleep in most subjects. The clinical features in the family are compared with those of 11 other PDC families in the literature and a core phenotype for PDC suggested. CSF monoamine metabolites measured at baseline and during an attack in one subject were found to increase during the attack. Magnetic resonance spectroscopy of brain and basal ganglia performed both during and between attacks was normal. Positron emission tomography using the D2 receptor ligand, 11C-raclopride, showed no abnormalities.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Jarman</LastName><ForeName>P R</ForeName><Initials>PR</Initials><AffiliationInfo><Affiliation>Department of Clinical Neurology, Institute of Neurology, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bhatia</LastName><ForeName>K P</ForeName><Initials>KP</Initials></Author><Author ValidYN="Y"><LastName>Davie</LastName><ForeName>C</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Heales</LastName><ForeName>S J</ForeName><Initials>SJ</Initials></Author><Author ValidYN="Y"><LastName>Turjanski</LastName><ForeName>N</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Taylor-Robinson</LastName><ForeName>S D</ForeName><Initials>SD</Initials></Author><Author ValidYN="Y"><LastName>Marsden</LastName><ForeName>C D</ForeName><Initials>CD</Initials></Author><Author ValidYN="Y"><LastName>Wood</LastName><ForeName>N W</ForeName><Initials>NW</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><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="D017448">Receptors, Dopamine D2</NameOfSubstance></Chemical><Chemical><RegistryNumber>VTD58H1Z2X</RegistryNumber><NameOfSubstance UI="D004298">Dopamine</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><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="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001921">Brain</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002819">Chorea</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002889">Chromosomes, Human, Pair 2</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003952">Diagnostic Imaging</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004298">Dopamine</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000502">physiology</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="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017448">Receptors, Dopamine D2</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000502">physiology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2000</Year><Month>8</Month><Day>6</Day><Hour>11</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2001</Year><Month>2</Month><Day>28</Day><Hour>10</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2000</Year><Month>8</Month><Day>6</Day><Hour>11</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">10928574</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><noCountry><name sortKey="Bhatia, K P" sort="Bhatia, K P" uniqKey="Bhatia K" first="K P" last="Bhatia">K P Bhatia</name><name sortKey="Davie, C" sort="Davie, C" uniqKey="Davie C" first="C" last="Davie">C. Davie</name><name sortKey="Heales, S J" sort="Heales, S J" uniqKey="Heales S" first="S J" last="Heales">S J Heales</name><name sortKey="Marsden, C D" sort="Marsden, C D" uniqKey="Marsden C" first="C D" last="Marsden">C D Marsden</name><name sortKey="Taylor Robinson, S D" sort="Taylor Robinson, S D" uniqKey="Taylor Robinson S" first="S D" last="Taylor-Robinson">S D Taylor-Robinson</name><name sortKey="Turjanski, N" sort="Turjanski, N" uniqKey="Turjanski N" first="N" last="Turjanski">N. Turjanski</name><name sortKey="Wood, N W" sort="Wood, N W" uniqKey="Wood N" first="N W" last="Wood">N W Wood</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Jarman, P R" sort="Jarman, P R" uniqKey="Jarman P" first="P R" last="Jarman">P R Jarman</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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