Cortical myoclonus in huntington's disease
Identifieur interne : 005B94 ( Main/Exploration ); précédent : 005B93; suivant : 005B95Cortical myoclonus in huntington's disease
Auteurs : P. D. Thompson [Royaume-Uni] ; K. P. Bhatia [Royaume-Uni] ; P. Brown [Royaume-Uni] ; M. B. Davis [Royaume-Uni] ; M. Pires [Royaume-Uni] ; N. P. Quinn [Royaume-Uni] ; P. Luthert [Royaume-Uni] ; M. Honovar [Royaume-Uni] ; M. D. O'Brien [Royaume-Uni] ; C. D. Marsden [Royaume-Uni] ; Harding [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 1994.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Adult, Alleles, Autopsy, Case study, Cerebral Cortex (physiopathology), Cerebral cortex, Cortical myoclonus, DNA, DNA (genetics), Electroencephalography, Electromyography, Evoked Potentials, Somatosensory (physiology), Female, Human, Humans, Huntington Disease (genetics), Huntington Disease (pathology), Huntington Disease (physiopathology), Huntington disease, Huntington's disease, Male, Myoclonus, Myoclonus (genetics), Myoclonus (pathology), Myoclonus (physiopathology), Neurologic Examination, Pedigree, Polymerase Chain Reaction, Reflex (physiology), Symptomatology.
- 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.
Url:
DOI: 10.1002/mds.870090609
Affiliations:
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D." last="Thompson">P. D. Thompson</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>University Department of Clinical Neurology, Guy's Hospital, London</wicri:cityArea></affiliation><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>MRC Human Movement and Balance Unit, Guy's Hospital, London</wicri:cityArea></affiliation></author><author><name sortKey="Bhatia, K P" sort="Bhatia, K P" uniqKey="Bhatia K" first="K. P." last="Bhatia">K. P. Bhatia</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>University Department of Clinical Neurology, Guy's Hospital, London</wicri:cityArea></affiliation></author><author><name sortKey="Brown, P" sort="Brown, P" uniqKey="Brown P" first="P." last="Brown">P. Brown</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>University Department of Clinical Neurology, Guy's Hospital, London</wicri:cityArea></affiliation><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>MRC Human Movement and Balance Unit, Guy's Hospital, London</wicri:cityArea></affiliation></author><author><name sortKey="Davis, M B" sort="Davis, M B" uniqKey="Davis M" first="M. B." last="Davis">M. B. Davis</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>University Department of Clinical Neurology, Guy's Hospital, London</wicri:cityArea></affiliation></author><author><name sortKey="Pires, M" sort="Pires, M" uniqKey="Pires M" first="M." last="Pires">M. Pires</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>Department of Neuropathology, Institute of Neurology, Guy's Hospital, London</wicri:cityArea></affiliation></author><author><name sortKey="Quinn, N P" sort="Quinn, N P" uniqKey="Quinn N" first="N. P." last="Quinn">N. P. Quinn</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>University Department of Clinical Neurology, Guy's Hospital, London</wicri:cityArea></affiliation></author><author><name sortKey="Luthert, P" sort="Luthert, P" uniqKey="Luthert P" first="P." last="Luthert">P. Luthert</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>Department of Neuropathology, Institute of Psychiatry Guy's Hospital, London</wicri:cityArea></affiliation></author><author><name sortKey="Honovar, M" sort="Honovar, M" uniqKey="Honovar M" first="M." last="Honovar">M. Honovar</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>Department of Neuropathology, Institute of Psychiatry Guy's Hospital, London</wicri:cityArea></affiliation></author><author><name sortKey="O Brien, M D" sort="O Brien, M D" uniqKey="O Brien M" first="M. D." last="O'Brien">M. D. O'Brien</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>Department of Neurology, Guy's Hospital, London</wicri:cityArea></affiliation></author><author><name sortKey="Marsden, C D" sort="Marsden, C D" uniqKey="Marsden C" first="C. D." last="Marsden">C. D. Marsden</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>University Department of Clinical Neurology, Guy's Hospital, London</wicri:cityArea></affiliation><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>MRC Human Movement and Balance Unit, Guy's Hospital, London</wicri:cityArea></affiliation></author><author><name sortKey="Harding" sort="Harding" uniqKey="Harding" last="Harding">Harding</name><affiliation wicri:level="2"><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>University Department of Clinical Neurology, Guy's Hospital, London</wicri:cityArea></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="1994">1994</date><biblScope unit="vol">9</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="633">633</biblScope><biblScope unit="page" to="641">641</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">82C825632CD0A6FB3924394F12E8570F844CB592</idno><idno type="DOI">10.1002/mds.870090609</idno><idno type="ArticleID">MDS870090609</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Alleles</term><term>Autopsy</term><term>Case study</term><term>Cerebral Cortex (physiopathology)</term><term>Cerebral cortex</term><term>Cortical myoclonus</term><term>DNA</term><term>DNA (genetics)</term><term>Electroencephalography</term><term>Electromyography</term><term>Evoked Potentials, Somatosensory (physiology)</term><term>Female</term><term>Human</term><term>Humans</term><term>Huntington Disease (genetics)</term><term>Huntington Disease (pathology)</term><term>Huntington Disease (physiopathology)</term><term>Huntington disease</term><term>Huntington's disease</term><term>Male</term><term>Myoclonus</term><term>Myoclonus (genetics)</term><term>Myoclonus (pathology)</term><term>Myoclonus (physiopathology)</term><term>Neurologic Examination</term><term>Pedigree</term><term>Polymerase Chain Reaction</term><term>Reflex (physiology)</term><term>Symptomatology</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Huntington Disease</term><term>Myoclonus</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Huntington Disease</term><term>Myoclonus</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Evoked Potentials, Somatosensory</term><term>Reflex</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Cerebral Cortex</term><term>Huntington Disease</term><term>Myoclonus</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Alleles</term><term>Electroencephalography</term><term>Electromyography</term><term>Female</term><term>Humans</term><term>Male</term><term>Neurologic Examination</term><term>Pedigree</term><term>Polymerase Chain Reaction</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Autopsie</term><term>Chorée Huntington</term><term>Cortex cérébral</term><term>DNA</term><term>Electroencéphalographie</term><term>Etude cas</term><term>Homme</term><term>Myoclonie</term><term>Symptomatologie</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">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></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li></region></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Thompson, P D" sort="Thompson, P D" uniqKey="Thompson P" first="P. D." last="Thompson">P. D. Thompson</name></region><name sortKey="Bhatia, K P" sort="Bhatia, K P" uniqKey="Bhatia K" first="K. P." last="Bhatia">K. P. Bhatia</name><name sortKey="Brown, P" sort="Brown, P" uniqKey="Brown P" first="P." last="Brown">P. Brown</name><name sortKey="Brown, P" sort="Brown, P" uniqKey="Brown P" first="P." last="Brown">P. Brown</name><name sortKey="Davis, M B" sort="Davis, M B" uniqKey="Davis M" first="M. B." last="Davis">M. B. Davis</name><name sortKey="Harding" sort="Harding" uniqKey="Harding" last="Harding">Harding</name><name sortKey="Honovar, M" sort="Honovar, M" uniqKey="Honovar M" first="M." last="Honovar">M. Honovar</name><name sortKey="Luthert, P" sort="Luthert, P" uniqKey="Luthert P" first="P." last="Luthert">P. Luthert</name><name sortKey="Marsden, C D" sort="Marsden, C D" uniqKey="Marsden C" first="C. D." last="Marsden">C. D. Marsden</name><name sortKey="Marsden, C D" sort="Marsden, C D" uniqKey="Marsden C" first="C. D." last="Marsden">C. D. Marsden</name><name sortKey="O Brien, M D" sort="O Brien, M D" uniqKey="O Brien M" first="M. D." last="O'Brien">M. D. O'Brien</name><name sortKey="Pires, M" sort="Pires, M" uniqKey="Pires M" first="M." last="Pires">M. Pires</name><name sortKey="Quinn, N P" sort="Quinn, N P" uniqKey="Quinn N" first="N. P." last="Quinn">N. P. Quinn</name><name sortKey="Thompson, P D" sort="Thompson, P D" uniqKey="Thompson P" first="P. D." last="Thompson">P. D. Thompson</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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