Neurophysiological abnormalities in the Westphal variant of Huntington's disease.
Identifieur interne : 004310 ( PubMed/Corpus ); précédent : 004309; suivant : 004311Neurophysiological abnormalities in the Westphal variant of Huntington's disease.
Auteurs : R. Töpper ; M. Schwarz ; H W Lange ; H. Hefter ; J. NothSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 1998.
English descriptors
- KwdEn :
- MESH :
- classification : Huntington Disease.
- physiology : Blinking, Evoked Potentials, Somatosensory, Isometric Contraction, Reflex, Saccades.
- physiopathology : Huntington Disease.
- Adult, Electromyography, Fingers, Humans, Male.
Abstract
The Westphal variant of Huntington's disease (HD) is a distinct clinical entity of HD characterized by a rigid-hypokinetic syndrome and is often associated with a juvenile onset of disease. Definite genetic differences between the subtypes of HD have not been delineated so far. Here we present the results of a battery of neurophysiological tests including somatosensory-evoked potentials, blink reflexes, long-latency reflexes, and measurement of saccadic velocities in a Westphal HD patient. Although quantitative assessment of his motor performance showed a severe hypokinetic syndrome resembling Parkinson's disease, the results of somatosensory-evoked potentials and blink reflexes were indistinguishable from results obtained in hyperkinetic HD patients. Long-latency reflexes, however, which are typically absent in hyper-kinetic HD patients, were retained in this patient. It is concluded that neurophysiology in HD patients is not a mere reflection of the patient's symptomatology but can give insight into the underlying pathophysiological process.
DOI: 10.1002/mds.870130610
PubMed: 9827616
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pubmed:9827616Le document en format XML
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Noth</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1998">1998</date><idno type="RBID">pubmed:9827616</idno><idno type="pmid">9827616</idno><idno type="doi">10.1002/mds.870130610</idno><idno type="wicri:Area/PubMed/Corpus">004310</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Neurophysiological abnormalities in the Westphal variant of Huntington's disease.</title><author><name sortKey="Topper, R" sort="Topper, R" uniqKey="Topper R" first="R" last="Töpper">R. Töpper</name><affiliation><nlm:affiliation>Department of Neurology, Technical University of Aachen, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Schwarz, M" sort="Schwarz, M" uniqKey="Schwarz M" first="M" last="Schwarz">M. Schwarz</name></author><author><name sortKey="Lange, H W" sort="Lange, H W" uniqKey="Lange H" first="H W" last="Lange">H W Lange</name></author><author><name sortKey="Hefter, H" sort="Hefter, H" uniqKey="Hefter H" first="H" last="Hefter">H. Hefter</name></author><author><name sortKey="Noth, J" sort="Noth, J" uniqKey="Noth J" first="J" last="Noth">J. Noth</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="1998" type="published">1998</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Blinking (physiology)</term><term>Electromyography</term><term>Evoked Potentials, Somatosensory (physiology)</term><term>Fingers</term><term>Humans</term><term>Huntington Disease (classification)</term><term>Huntington Disease (physiopathology)</term><term>Isometric Contraction (physiology)</term><term>Male</term><term>Reflex (physiology)</term><term>Saccades (physiology)</term></keywords><keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Huntington Disease</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Blinking</term><term>Evoked Potentials, Somatosensory</term><term>Isometric Contraction</term><term>Reflex</term><term>Saccades</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Huntington Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Electromyography</term><term>Fingers</term><term>Humans</term><term>Male</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The Westphal variant of Huntington's disease (HD) is a distinct clinical entity of HD characterized by a rigid-hypokinetic syndrome and is often associated with a juvenile onset of disease. Definite genetic differences between the subtypes of HD have not been delineated so far. Here we present the results of a battery of neurophysiological tests including somatosensory-evoked potentials, blink reflexes, long-latency reflexes, and measurement of saccadic velocities in a Westphal HD patient. Although quantitative assessment of his motor performance showed a severe hypokinetic syndrome resembling Parkinson's disease, the results of somatosensory-evoked potentials and blink reflexes were indistinguishable from results obtained in hyperkinetic HD patients. Long-latency reflexes, however, which are typically absent in hyper-kinetic HD patients, were retained in this patient. It is concluded that neurophysiology in HD patients is not a mere reflection of the patient's symptomatology but can give insight into the underlying pathophysiological process.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">9827616</PMID><DateCreated><Year>1999</Year><Month>02</Month><Day>17</Day></DateCreated><DateCompleted><Year>1999</Year><Month>02</Month><Day>17</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>13</Volume><Issue>6</Issue><PubDate><Year>1998</Year><Month>Nov</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Neurophysiological abnormalities in the Westphal variant of Huntington's disease.</ArticleTitle><Pagination><MedlinePgn>920-8</MedlinePgn></Pagination><Abstract><AbstractText>The Westphal variant of Huntington's disease (HD) is a distinct clinical entity of HD characterized by a rigid-hypokinetic syndrome and is often associated with a juvenile onset of disease. Definite genetic differences between the subtypes of HD have not been delineated so far. Here we present the results of a battery of neurophysiological tests including somatosensory-evoked potentials, blink reflexes, long-latency reflexes, and measurement of saccadic velocities in a Westphal HD patient. Although quantitative assessment of his motor performance showed a severe hypokinetic syndrome resembling Parkinson's disease, the results of somatosensory-evoked potentials and blink reflexes were indistinguishable from results obtained in hyperkinetic HD patients. Long-latency reflexes, however, which are typically absent in hyper-kinetic HD patients, were retained in this patient. It is concluded that neurophysiology in HD patients is not a mere reflection of the patient's symptomatology but can give insight into the underlying pathophysiological process.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Töpper</LastName><ForeName>R</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Neurology, Technical University of Aachen, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schwarz</LastName><ForeName>M</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Lange</LastName><ForeName>H W</ForeName><Initials>HW</Initials></Author><Author ValidYN="Y"><LastName>Hefter</LastName><ForeName>H</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Noth</LastName><ForeName>J</ForeName><Initials>J</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><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001767">Blinking</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000502">physiology</QualifierName></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="D005385">Fingers</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006816">Huntington Disease</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000145">classification</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007537">Isometric Contraction</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000502">physiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012018">Reflex</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000502">physiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012438">Saccades</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000502">physiology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>1998</Year><Month>11</Month><Day>25</Day></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>1998</Year><Month>11</Month><Day>25</Day><Hour>0</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>1998</Year><Month>11</Month><Day>25</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">9827616</ArticleId><ArticleId IdType="doi">10.1002/mds.870130610</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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