Neurophysiological abnormalities in the westphal variant of Huntington's disease
Identifieur interne : 004F46 ( Main/Exploration ); précédent : 004F45; suivant : 004F47Neurophysiological 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.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Adult, Blinking (physiology), Bradykinesia, Case study, Clinical form, Electromyography, Evoked Potentials, Somatosensory (physiology), Exploration, Fingers, Human, Humans, Huntington Disease (classification), Huntington Disease (physiopathology), Huntington disease, Huntington's disease, Hypokinesia, Isometric Contraction (physiology), Long‐loop reflexes, Male, Reflex (physiology), SEP, Saccades (physiology), Somatosensory evoked potential, 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
Affiliations:
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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>Case study</term><term>Clinical form</term><term>Electromyography</term><term>Evoked Potentials, Somatosensory (physiology)</term><term>Exploration</term><term>Fingers</term><term>Human</term><term>Humans</term><term>Huntington Disease (classification)</term><term>Huntington Disease (physiopathology)</term><term>Huntington disease</term><term>Huntington's disease</term><term>Hypokinesia</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>Somatosensory evoked potential</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><keywords scheme="Pascal" xml:lang="fr"><term>Chorée Huntington</term><term>Etude cas</term><term>Exploration</term><term>Forme clinique</term><term>Homme</term><term>Hypokinésie</term><term>Mâle</term><term>Potentiel évoqué somatosensoriel</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</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><affiliations><list><country><li>Allemagne</li></country></list><tree><country name="Allemagne"><noRegion><name sortKey="Topper, Rudolf" sort="Topper, Rudolf" uniqKey="Topper R" first="Rudolf" last="Töpper">Rudolf Töpper</name></noRegion><name sortKey="Hefter, Harald" sort="Hefter, Harald" uniqKey="Hefter H" first="Harald" last="Hefter">Harald Hefter</name><name sortKey="Lange, Herwig W" sort="Lange, Herwig W" uniqKey="Lange H" first="Herwig W." last="Lange">Herwig W. Lange</name><name sortKey="Noth, Johannes" sort="Noth, Johannes" uniqKey="Noth J" first="Johannes" last="Noth">Johannes Noth</name><name sortKey="Schwarz, Michael" sort="Schwarz, Michael" uniqKey="Schwarz M" first="Michael" last="Schwarz">Michael Schwarz</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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