Neurophysiological abnormalities in the westphal variant of Huntington's disease
Identifieur interne : 007E58 ( Main/Merge ); précédent : 007E57; suivant : 007E59Neurophysiological abnormalities in the westphal variant of Huntington's disease
Auteurs : Rudolf Töpper [Allemagne] ; Michael Schwarz [Allemagne] ; Herwig W. Lange [Allemagne] ; Harald Hefter [Allemagne] ; Johannes Noth [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 1998-11.
English descriptors
- KwdEn :
- Adult, Blinking (physiology), Bradykinesia, Electromyography, Evoked Potentials, Somatosensory (physiology), Fingers, Humans, Huntington Disease (classification), Huntington Disease (physiopathology), Huntington's disease, Isometric Contraction (physiology), Long‐loop reflexes, Male, Reflex (physiology), SEP, Saccades (physiology), Westphal variant.
- 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, longlatency 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 somatosensoryevoked potentials and blink reflexes were indistinguishable from results obtained in hyperkinetic HD patients. Longlatency reflexes, however, which are typically absent in hyperkinetic 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.
Url:
DOI: 10.1002/mds.870130610
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Lange</name></author><author><name sortKey="Hefter, Harald" sort="Hefter, Harald" uniqKey="Hefter H" first="Harald" last="Hefter">Harald Hefter</name></author><author><name sortKey="Noth, Johannes" sort="Noth, Johannes" uniqKey="Noth J" first="Johannes" last="Noth">Johannes Noth</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:4C66874FBB4B39C1518B082F257988F3D5293973</idno><date when="1998" year="1998">1998</date><idno type="doi">10.1002/mds.870130610</idno><idno type="url">https://api.istex.fr/document/4C66874FBB4B39C1518B082F257988F3D5293973/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000E51</idno><idno type="wicri:Area/Istex/Curation">000E51</idno><idno type="wicri:Area/Istex/Checkpoint">003681</idno><idno type="wicri:doubleKey">0885-3185:1998:Topper R:neurophysiological:abnormalities:in</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:9827616</idno><idno type="wicri:Area/PubMed/Corpus">004310</idno><idno type="wicri:Area/PubMed/Curation">004310</idno><idno type="wicri:Area/PubMed/Checkpoint">004386</idno><idno type="wicri:Area/Ncbi/Merge">005073</idno><idno type="wicri:Area/Ncbi/Curation">005073</idno><idno type="wicri:Area/Ncbi/Checkpoint">005073</idno><idno type="wicri:doubleKey">0885-3185:1998:Topper R:neurophysiological:abnormalities:in</idno><idno type="wicri:Area/Main/Merge">007E58</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Neurophysiological abnormalities in the westphal variant of Huntington's disease</title><author><name sortKey="Topper, Rudolf" sort="Topper, Rudolf" uniqKey="Topper R" first="Rudolf" last="Töpper">Rudolf Töpper</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Technical University of Aachen</wicri:regionArea><wicri:noRegion>Technical University of Aachen</wicri:noRegion><wicri:noRegion>Technical University of Aachen</wicri:noRegion></affiliation></author><author><name sortKey="Schwarz, Michael" sort="Schwarz, Michael" uniqKey="Schwarz M" first="Michael" last="Schwarz">Michael Schwarz</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Technical University of Aachen</wicri:regionArea><wicri:noRegion>Technical University of Aachen</wicri:noRegion><wicri:noRegion>Technical University of Aachen</wicri:noRegion></affiliation></author><author><name sortKey="Lange, Herwig W" sort="Lange, Herwig W" uniqKey="Lange H" first="Herwig W." last="Lange">Herwig W. Lange</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Neurological Therapy Center, Heinrich‐Heine University, Düsseldorf</wicri:regionArea><wicri:noRegion>Düsseldorf</wicri:noRegion><wicri:noRegion>Düsseldorf</wicri:noRegion></affiliation></author><author><name sortKey="Hefter, Harald" sort="Hefter, Harald" uniqKey="Hefter H" first="Harald" last="Hefter">Harald Hefter</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Heinrich‐Heine University, Düsseldorf</wicri:regionArea><wicri:noRegion>Düsseldorf</wicri:noRegion><wicri:noRegion>Düsseldorf</wicri:noRegion></affiliation></author><author><name sortKey="Noth, Johannes" sort="Noth, Johannes" uniqKey="Noth J" first="Johannes" last="Noth">Johannes Noth</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Technical University of Aachen</wicri:regionArea><wicri:noRegion>Technical University of Aachen</wicri:noRegion><wicri:noRegion>Technical University of Aachen</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="1998-11">1998-11</date><biblScope unit="vol">13</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="920">920</biblScope><biblScope unit="page" to="928">928</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">4C66874FBB4B39C1518B082F257988F3D5293973</idno><idno type="DOI">10.1002/mds.870130610</idno><idno type="ArticleID">MDS870130610</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Blinking (physiology)</term><term>Bradykinesia</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>Huntington's disease</term><term>Isometric Contraction (physiology)</term><term>Long‐loop reflexes</term><term>Male</term><term>Reflex (physiology)</term><term>SEP</term><term>Saccades (physiology)</term><term>Westphal variant</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><langUsage><language ident="en">en</language></langUsage></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, longlatency 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 somatosensoryevoked potentials and blink reflexes were indistinguishable from results obtained in hyperkinetic HD patients. Longlatency reflexes, however, which are typically absent in hyperkinetic 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><double doi="10.1002/mds.870130610"><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Neurophysiological abnormalities in the westphal variant of Huntington's disease</title><author><name sortKey="Topper, Rudolf" sort="Topper, Rudolf" uniqKey="Topper R" first="Rudolf" last="Töpper">Rudolf Töpper</name></author><author><name sortKey="Schwarz, Michael" sort="Schwarz, Michael" uniqKey="Schwarz M" first="Michael" last="Schwarz">Michael Schwarz</name></author><author><name sortKey="Lange, Herwig W" sort="Lange, Herwig W" uniqKey="Lange H" first="Herwig W." last="Lange">Herwig W. Lange</name></author><author><name sortKey="Hefter, Harald" sort="Hefter, Harald" uniqKey="Hefter H" first="Harald" last="Hefter">Harald Hefter</name></author><author><name sortKey="Noth, Johannes" sort="Noth, Johannes" uniqKey="Noth J" first="Johannes" last="Noth">Johannes Noth</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:4C66874FBB4B39C1518B082F257988F3D5293973</idno><date when="1998" year="1998">1998</date><idno type="doi">10.1002/mds.870130610</idno><idno type="url">https://api.istex.fr/document/4C66874FBB4B39C1518B082F257988F3D5293973/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000E51</idno><idno type="wicri:Area/Istex/Curation">000E51</idno><idno type="wicri:Area/Istex/Checkpoint">003681</idno><idno type="wicri:doubleKey">0885-3185:1998:Topper R:neurophysiological:abnormalities:in</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Neurophysiological abnormalities in the westphal variant of Huntington's disease</title><author><name sortKey="Topper, Rudolf" sort="Topper, Rudolf" uniqKey="Topper R" first="Rudolf" last="Töpper">Rudolf Töpper</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Technical University of Aachen</wicri:regionArea><wicri:noRegion>Technical University of Aachen</wicri:noRegion><wicri:noRegion>Technical University of Aachen</wicri:noRegion></affiliation></author><author><name sortKey="Schwarz, Michael" sort="Schwarz, Michael" uniqKey="Schwarz M" first="Michael" last="Schwarz">Michael Schwarz</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Technical University of Aachen</wicri:regionArea><wicri:noRegion>Technical University of Aachen</wicri:noRegion><wicri:noRegion>Technical University of Aachen</wicri:noRegion></affiliation></author><author><name sortKey="Lange, Herwig W" sort="Lange, Herwig W" uniqKey="Lange H" first="Herwig W." last="Lange">Herwig W. Lange</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Neurological Therapy Center, Heinrich‐Heine University, Düsseldorf</wicri:regionArea><wicri:noRegion>Düsseldorf</wicri:noRegion><wicri:noRegion>Düsseldorf</wicri:noRegion></affiliation></author><author><name sortKey="Hefter, Harald" sort="Hefter, Harald" uniqKey="Hefter H" first="Harald" last="Hefter">Harald Hefter</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Heinrich‐Heine University, Düsseldorf</wicri:regionArea><wicri:noRegion>Düsseldorf</wicri:noRegion><wicri:noRegion>Düsseldorf</wicri:noRegion></affiliation></author><author><name sortKey="Noth, Johannes" sort="Noth, Johannes" uniqKey="Noth J" first="Johannes" last="Noth">Johannes Noth</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Technical University of Aachen</wicri:regionArea><wicri:noRegion>Technical University of Aachen</wicri:noRegion><wicri:noRegion>Technical University of Aachen</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="1998-11">1998-11</date><biblScope unit="vol">13</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="920">920</biblScope><biblScope unit="page" to="928">928</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">4C66874FBB4B39C1518B082F257988F3D5293973</idno><idno type="DOI">10.1002/mds.870130610</idno><idno type="ArticleID">MDS870130610</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Bradykinesia</term><term>Huntington's disease</term><term>Long‐loop reflexes</term><term>SEP</term><term>Westphal variant</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></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, longlatency 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 somatosensoryevoked potentials and blink reflexes were indistinguishable from results obtained in hyperkinetic HD patients. Longlatency reflexes, however, which are typically absent in hyperkinetic 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></ISTEX><PubMed><TEI><teiHeader><fileDesc><titleStmt><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 wicri:level="1"><nlm:affiliation>Department of Neurology, Technical University of Aachen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Technical University of Aachen</wicri:regionArea><wicri:noRegion>Technical University of Aachen</wicri:noRegion><wicri:noRegion>Technical University of Aachen</wicri:noRegion><wicri:noRegion>Technical University of Aachen</wicri:noRegion></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></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><idno type="wicri:Area/PubMed/Curation">004310</idno><idno type="wicri:Area/PubMed/Checkpoint">004386</idno><idno type="wicri:Area/Ncbi/Merge">005073</idno><idno type="wicri:Area/Ncbi/Curation">005073</idno><idno type="wicri:Area/Ncbi/Checkpoint">005073</idno><idno type="wicri:doubleKey">0885-3185:1998:Topper R:neurophysiological:abnormalities:in</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 wicri:level="1"><nlm:affiliation>Department of Neurology, Technical University of Aachen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Technical University of Aachen</wicri:regionArea><wicri:noRegion>Technical University of Aachen</wicri:noRegion><wicri:noRegion>Technical University of Aachen</wicri:noRegion><wicri:noRegion>Technical University of Aachen</wicri:noRegion></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></double></record>Pour manipuler ce document sous Unix (Dilib)
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