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:
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pubmed:7845404Le document en format XML
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<term>Evoked Potentials, Somatosensory (physiology)</term>
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<term>Myoclonus (physiopathology)</term>
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<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>
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