Neurophysiological abnormalities in the Westphal variant of Huntington's disease.
Identifieur interne : 005073 ( Ncbi/Merge ); précédent : 005072; suivant : 005074Neurophysiological abnormalities in the Westphal variant of Huntington's disease.
Auteurs : R. Töpper [Allemagne] ; 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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<author><name sortKey="Schwarz, M" sort="Schwarz, M" uniqKey="Schwarz M" first="M" last="Schwarz">M. Schwarz</name>
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<term>Fingers</term>
<term>Humans</term>
<term>Huntington Disease (classification)</term>
<term>Huntington Disease (physiopathology)</term>
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<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>
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<ArticleTitle>Neurophysiological abnormalities in the Westphal variant of Huntington's disease.</ArticleTitle>
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<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>
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