Cortical myoclonus in Huntington's disease.
Identifieur interne : 004B38 ( PubMed/Checkpoint ); précédent : 004B37; suivant : 004B39Cortical myoclonus in Huntington's disease.
Auteurs : P D Thompson [Royaume-Uni] ; K P Bhatia ; P. Brown ; M B Davis ; M. Pires ; N P Quinn ; P. Luthert ; M. Honovar ; M D O'Brien ; C D MarsdenSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 1994.
English descriptors
- KwdEn :
- Adult, Alleles, Cerebral Cortex (physiopathology), DNA (genetics), Electroencephalography, Electromyography, Evoked Potentials, Somatosensory (physiology), Female, Humans, Huntington Disease (genetics), Huntington Disease (pathology), Huntington Disease (physiopathology), Male, Myoclonus (genetics), Myoclonus (pathology), Myoclonus (physiopathology), Neurologic Examination, Pedigree, Polymerase Chain Reaction, Reflex (physiology).
- MESH :
- chemical , genetics : DNA.
- genetics : Huntington Disease, Myoclonus.
- pathology : Huntington Disease, Myoclonus.
- physiology : Evoked Potentials, Somatosensory, Reflex.
- physiopathology : Cerebral Cortex, Huntington Disease, Myoclonus.
- Adult, Alleles, Electroencephalography, Electromyography, Female, Humans, Male, Neurologic Examination, Pedigree, Polymerase Chain Reaction.
Abstract
We describe three patients with Huntington's disease, from two families, in whom myoclonus was the predominant clinical feature. The diagnosis was confirmed at autopsy in two cases and by DNA analysis in all three. These patients all presented before the age of 30 years and were the offspring of affected fathers. Neurophysiological studies documented generalised and multifocal action myoclonus of cortical origin that was strikingly stimulus sensitive, without enlargement of the cortical somatosensory evoked potential. The myoclonus improved with piracetam therapy in one patient and a combination of sodium valproate and clonazepam in the other two. Cortical reflex myoclonus is a rare but disabling component of the complex movement disorder of Huntington's disease, which may lead to substantial diagnostic difficulties.
DOI: 10.1002/mds.870090609
PubMed: 7845404
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
pubmed:7845404Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Cortical myoclonus in Huntington's disease.</title><author><name sortKey="Thompson, P D" sort="Thompson, P D" uniqKey="Thompson P" first="P D" last="Thompson">P D Thompson</name><affiliation wicri:level="2"><nlm:affiliation>University Department of Clinical Neurology, Guy's Hospital, London, England.</nlm:affiliation><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>University Department of Clinical Neurology, Guy's Hospital, London</wicri:cityArea></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="Brown, P" sort="Brown, P" uniqKey="Brown P" first="P" last="Brown">P. Brown</name></author><author><name sortKey="Davis, M B" sort="Davis, M B" uniqKey="Davis M" first="M B" last="Davis">M B Davis</name></author><author><name sortKey="Pires, M" sort="Pires, M" uniqKey="Pires M" first="M" last="Pires">M. Pires</name></author><author><name sortKey="Quinn, N P" sort="Quinn, N P" uniqKey="Quinn N" first="N P" last="Quinn">N P Quinn</name></author><author><name sortKey="Luthert, P" sort="Luthert, P" uniqKey="Luthert P" first="P" last="Luthert">P. Luthert</name></author><author><name sortKey="Honovar, M" sort="Honovar, M" uniqKey="Honovar M" first="M" last="Honovar">M. Honovar</name></author><author><name sortKey="O Brien, M D" sort="O Brien, M D" uniqKey="O Brien M" first="M D" last="O'Brien">M D O'Brien</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></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1994">1994</date><idno type="RBID">pubmed:7845404</idno><idno type="pmid">7845404</idno><idno type="doi">10.1002/mds.870090609</idno><idno type="wicri:Area/PubMed/Corpus">004A48</idno><idno type="wicri:Area/PubMed/Curation">004A48</idno><idno type="wicri:Area/PubMed/Checkpoint">004B38</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Cortical myoclonus in Huntington's disease.</title><author><name sortKey="Thompson, P D" sort="Thompson, P D" uniqKey="Thompson P" first="P D" last="Thompson">P D Thompson</name><affiliation wicri:level="2"><nlm:affiliation>University Department of Clinical Neurology, Guy's Hospital, London, England.</nlm:affiliation><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>University Department of Clinical Neurology, Guy's Hospital, London</wicri:cityArea></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="Brown, P" sort="Brown, P" uniqKey="Brown P" first="P" last="Brown">P. Brown</name></author><author><name sortKey="Davis, M B" sort="Davis, M B" uniqKey="Davis M" first="M B" last="Davis">M B Davis</name></author><author><name sortKey="Pires, M" sort="Pires, M" uniqKey="Pires M" first="M" last="Pires">M. Pires</name></author><author><name sortKey="Quinn, N P" sort="Quinn, N P" uniqKey="Quinn N" first="N P" last="Quinn">N P Quinn</name></author><author><name sortKey="Luthert, P" sort="Luthert, P" uniqKey="Luthert P" first="P" last="Luthert">P. Luthert</name></author><author><name sortKey="Honovar, M" sort="Honovar, M" uniqKey="Honovar M" first="M" last="Honovar">M. Honovar</name></author><author><name sortKey="O Brien, M D" sort="O Brien, M D" uniqKey="O Brien M" first="M D" last="O'Brien">M D O'Brien</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></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="1994" type="published">1994</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Alleles</term><term>Cerebral Cortex (physiopathology)</term><term>DNA (genetics)</term><term>Electroencephalography</term><term>Electromyography</term><term>Evoked Potentials, Somatosensory (physiology)</term><term>Female</term><term>Humans</term><term>Huntington Disease (genetics)</term><term>Huntington Disease (pathology)</term><term>Huntington Disease (physiopathology)</term><term>Male</term><term>Myoclonus (genetics)</term><term>Myoclonus (pathology)</term><term>Myoclonus (physiopathology)</term><term>Neurologic Examination</term><term>Pedigree</term><term>Polymerase Chain Reaction</term><term>Reflex (physiology)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Huntington Disease</term><term>Myoclonus</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Huntington Disease</term><term>Myoclonus</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Evoked Potentials, Somatosensory</term><term>Reflex</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Cerebral Cortex</term><term>Huntington Disease</term><term>Myoclonus</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Alleles</term><term>Electroencephalography</term><term>Electromyography</term><term>Female</term><term>Humans</term><term>Male</term><term>Neurologic Examination</term><term>Pedigree</term><term>Polymerase Chain Reaction</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We describe three patients with Huntington's disease, from two families, in whom myoclonus was the predominant clinical feature. The diagnosis was confirmed at autopsy in two cases and by DNA analysis in all three. These patients all presented before the age of 30 years and were the offspring of affected fathers. Neurophysiological studies documented generalised and multifocal action myoclonus of cortical origin that was strikingly stimulus sensitive, without enlargement of the cortical somatosensory evoked potential. The myoclonus improved with piracetam therapy in one patient and a combination of sodium valproate and clonazepam in the other two. Cortical reflex myoclonus is a rare but disabling component of the complex movement disorder of Huntington's disease, which may lead to substantial diagnostic difficulties.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">7845404</PMID><DateCreated><Year>1995</Year><Month>03</Month><Day>08</Day></DateCreated><DateCompleted><Year>1995</Year><Month>03</Month><Day>08</Day></DateCompleted><DateRevised><Year>2004</Year><Month>11</Month><Day>17</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>9</Volume><Issue>6</Issue><PubDate><Year>1994</Year><Month>Nov</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Cortical myoclonus in Huntington's disease.</ArticleTitle><Pagination><MedlinePgn>633-41</MedlinePgn></Pagination><Abstract><AbstractText>We describe three patients with Huntington's disease, from two families, in whom myoclonus was the predominant clinical feature. The diagnosis was confirmed at autopsy in two cases and by DNA analysis in all three. These patients all presented before the age of 30 years and were the offspring of affected fathers. Neurophysiological studies documented generalised and multifocal action myoclonus of cortical origin that was strikingly stimulus sensitive, without enlargement of the cortical somatosensory evoked potential. The myoclonus improved with piracetam therapy in one patient and a combination of sodium valproate and clonazepam in the other two. Cortical reflex myoclonus is a rare but disabling component of the complex movement disorder of Huntington's disease, which may lead to substantial diagnostic difficulties.</AbstractText></Abstract><AuthorList CompleteYN="N"><Author ValidYN="Y"><LastName>Thompson</LastName><ForeName>P D</ForeName><Initials>PD</Initials><AffiliationInfo><Affiliation>University Department of Clinical Neurology, Guy's Hospital, London, England.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bhatia</LastName><ForeName>K P</ForeName><Initials>KP</Initials></Author><Author ValidYN="Y"><LastName>Brown</LastName><ForeName>P</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Davis</LastName><ForeName>M B</ForeName><Initials>MB</Initials></Author><Author ValidYN="Y"><LastName>Pires</LastName><ForeName>M</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Quinn</LastName><ForeName>N P</ForeName><Initials>NP</Initials></Author><Author ValidYN="Y"><LastName>Luthert</LastName><ForeName>P</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Honovar</LastName><ForeName>M</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>O'Brien</LastName><ForeName>M D</ForeName><Initials>MD</Initials></Author><Author ValidYN="Y"><LastName>Marsden</LastName><ForeName>C D</ForeName><Initials>CD</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>UNITED STATES</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>9007-49-2</RegistryNumber><NameOfSubstance UI="D004247">DNA</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000483">Alleles</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002540">Cerebral Cortex</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004247">DNA</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004569">Electroencephalography</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004576">Electromyography</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005073">Evoked Potentials, Somatosensory</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000502">physiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006816">Huntington Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009207">Myoclonus</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009460">Neurologic Examination</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016133">Polymerase Chain Reaction</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012018">Reflex</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000502">physiology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>1994</Year><Month>11</Month><Day>1</Day></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>1994</Year><Month>11</Month><Day>1</Day><Hour>0</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>1994</Year><Month>11</Month><Day>1</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">7845404</ArticleId><ArticleId IdType="doi">10.1002/mds.870090609</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li></region></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="Brown, P" sort="Brown, P" uniqKey="Brown P" first="P" last="Brown">P. Brown</name><name sortKey="Davis, M B" sort="Davis, M B" uniqKey="Davis M" first="M B" last="Davis">M B Davis</name><name sortKey="Honovar, M" sort="Honovar, M" uniqKey="Honovar M" first="M" last="Honovar">M. Honovar</name><name sortKey="Luthert, P" sort="Luthert, P" uniqKey="Luthert P" first="P" last="Luthert">P. Luthert</name><name sortKey="Marsden, C D" sort="Marsden, C D" uniqKey="Marsden C" first="C D" last="Marsden">C D Marsden</name><name sortKey="O Brien, M D" sort="O Brien, M D" uniqKey="O Brien M" first="M D" last="O'Brien">M D O'Brien</name><name sortKey="Pires, M" sort="Pires, M" uniqKey="Pires M" first="M" last="Pires">M. Pires</name><name sortKey="Quinn, N P" sort="Quinn, N P" uniqKey="Quinn N" first="N P" last="Quinn">N P Quinn</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Thompson, P D" sort="Thompson, P D" uniqKey="Thompson P" first="P D" last="Thompson">P D Thompson</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PubMed/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 004B38 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd -nk 004B38 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= PubMed
|étape= Checkpoint
|type= RBID
|clé= pubmed:7845404
|texte= Cortical myoclonus in Huntington's disease.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/RBID.i -Sk "pubmed:7845404" \
| HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |