Clinical analysis in familial cortical myoclonic tremor allows differential diagnosis with essential tremor.
Identifieur interne : 000059 ( Hal/Checkpoint ); précédent : 000058; suivant : 000060Clinical analysis in familial cortical myoclonic tremor allows differential diagnosis with essential tremor.
Auteurs : Frédéric Bourdain [France] ; Emmanuelle Apartis [France] ; Jean-Marc Trocello [France] ; Jean-Sébastien Vidal [France] ; Pascal Masnou [France] ; Laurent Vercueil [France] ; Marie Vidailhet [France]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-05.
Abstract
Familial cortical myoclonic tremor (FCMT) is a rare disorder often leading to a wrong clinical diagnosis of essential tremor. Electrophysiological data are usually considered to allow a correct diagnosis. We describe a FCMT French family with previously unreported clinical features such as sensitivity to glucose deprivation, vibration, repetitive visual patterns, and intense visual or auditory stimulation and contrasts. Electrophysiological studies of the propositus confirm the cortical reflex myoclonus elicited by photic stimulation and the absence of epileptic electroencephalographic discharges. We emphasize that a precise clinical analysis can lead to a correct diagnosis before electrophysiological confirmation. This is also the first-ever report of efficacy of levetiracetam in FCMT.
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DOI: 10.1002/mds.20725
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Paris VI]</orgName><desc><address><addrLine>184 r Fbg St Antoine 75012 Paris</addrLine><country key="FR"></country></address></desc><listRelation><relation active="#struct-93591" type="direct"></relation><relation active="#struct-300068" type="direct"></relation><relation active="#struct-300152" type="direct"></relation></listRelation><tutelles><tutelle active="#struct-93591" type="direct"><org type="institution" xml:id="struct-93591" status="VALID"><orgName>Université Pierre et Marie Curie - Paris 6</orgName><orgName type="acronym">UPMC</orgName><desc><address><addrLine>4 place Jussieu - 75005 Paris</addrLine><country key="FR"></country></address><ref type="url">http://www.upmc.fr/</ref></desc></org></tutelle><tutelle active="#struct-300068" type="direct"><org type="institution" xml:id="struct-300068" status="VALID"><orgName>Assistance publique - Hôpitaux de Paris (AP-HP)</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle><tutelle active="#struct-300152" type="direct"><org type="institution" xml:id="struct-300152" status="VALID"><orgName>Hôpital Saint-Antoine</orgName><desc><address><country key="FR"></country></address></desc></org></tutelle></tutelles></hal:affiliation><country>France</country></affiliation></author></analytic><idno type="DOI">10.1002/mds.20725</idno><series><title level="j">Movement Disorders</title><idno type="ISSN">0885-3185</idno><imprint><date type="datePub">2006-05</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Familial cortical myoclonic tremor (FCMT) is a rare disorder often leading to a wrong clinical diagnosis of essential tremor. Electrophysiological data are usually considered to allow a correct diagnosis. We describe a FCMT French family with previously unreported clinical features such as sensitivity to glucose deprivation, vibration, repetitive visual patterns, and intense visual or auditory stimulation and contrasts. Electrophysiological studies of the propositus confirm the cortical reflex myoclonus elicited by photic stimulation and the absence of epileptic electroencephalographic discharges. We emphasize that a precise clinical analysis can lead to a correct diagnosis before electrophysiological confirmation. This is also the first-ever report of efficacy of levetiracetam in FCMT.</div></front></TEI><hal api="V3"><titleStmt><title xml:lang="en">Clinical analysis in familial cortical myoclonic tremor allows differential diagnosis with essential tremor.</title><author role="aut"><persName><forename type="first">Frédéric</forename><surname>Bourdain</surname></persName><email></email><idno type="halauthor">217062</idno><affiliation ref="#struct-16622"></affiliation></author><author role="aut"><persName><forename type="first">Emmanuelle</forename><surname>Apartis</surname></persName><email></email><idno type="halauthor">217009</idno><affiliation ref="#struct-46417"></affiliation><affiliation ref="#struct-94753"></affiliation></author><author role="aut"><persName><forename type="first">Jean-Marc</forename><surname>Trocello</surname></persName><email></email><idno type="halauthor">407257</idno><affiliation ref="#struct-16622"></affiliation></author><author role="aut"><persName><forename type="first">Jean-Sébastien</forename><surname>Vidal</surname></persName><email></email><idno type="halauthor">214237</idno><affiliation ref="#struct-16622"></affiliation></author><author role="aut"><persName><forename type="first">Pascal</forename><surname>Masnou</surname></persName><email></email><idno type="halauthor">407258</idno><affiliation ref="#struct-14923"></affiliation></author><author role="aut"><persName><forename type="first">Laurent</forename><surname>Vercueil</surname></persName><email></email><idno type="halauthor">399644</idno><affiliation ref="#struct-70943"></affiliation></author><author role="aut"><persName><forename type="first">Marie</forename><surname>Vidailhet</surname></persName><email></email><idno type="halauthor">216232</idno><affiliation ref="#struct-16622"></affiliation><affiliation ref="#struct-23330"></affiliation></author><editor role="depositor"><persName><forename>Colin</forename><surname>Deransart</surname></persName><email>colin.deransart@ujf-grenoble.fr</email></editor></titleStmt><editionStmt><edition n="v1" type="current"><date type="whenSubmitted">2009-05-26 15:22:29</date><date type="whenModified">2009-05-28 13:20:14</date><date type="whenReleased">2009-05-28 13:20:14</date><date type="whenProduced">2006-05</date></edition><respStmt><resp>contributor</resp><name key="132365"><persName><forename>Colin</forename><surname>Deransart</surname></persName><email>colin.deransart@ujf-grenoble.fr</email></name></respStmt></editionStmt><publicationStmt><distributor>CCSD</distributor><idno type="halId">inserm-00388235</idno><idno type="halUri">http://www.hal.inserm.fr/inserm-00388235</idno><idno type="halBibtex">bourdain:inserm-00388235</idno><idno type="halRefHtml">Movement Disorders, Wiley, 2006, 21 (5), pp.599-608. <10.1002/mds.20725></idno><idno type="halRef">Movement Disorders, Wiley, 2006, 21 (5), pp.599-608. <10.1002/mds.20725></idno></publicationStmt><seriesStmt><idno type="stamp" n="INSERM">INSERM - Institut national de la santé et de la recherche médicale</idno><idno type="stamp" n="UNIV-PARIS6">Université Pierre et Marie Curie - Paris VI</idno><idno type="stamp" n="UNIV-GRENOBLE1" p="UGA">Université Joseph Fourier - Grenoble I</idno><idno type="stamp" n="UNIV-PSUD">Université Paris Sud - Paris XI</idno><idno type="stamp" n="APHP" p="INSERM">AP-HP</idno><idno type="stamp" n="UNIV-PARIS11">Université Paris-Sud 11</idno><idno type="stamp" n="UPMC">Université Pierre et Marie Curie</idno><idno type="stamp" n="UGA">HAL Grenoble Alpes</idno></seriesStmt><notesStmt><note type="audience" n="2">International</note><note type="popular" n="0">No</note><note type="peer" n="1">Yes</note></notesStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Clinical analysis in familial cortical myoclonic tremor allows differential diagnosis with essential tremor.</title><author role="aut"><persName><forename type="first">Frédéric</forename><surname>Bourdain</surname></persName><idno type="halAuthorId">217062</idno><affiliation ref="#struct-16622"></affiliation></author><author role="aut"><persName><forename type="first">Emmanuelle</forename><surname>Apartis</surname></persName><idno type="halAuthorId">217009</idno><affiliation ref="#struct-46417"></affiliation><affiliation ref="#struct-94753"></affiliation></author><author role="aut"><persName><forename type="first">Jean-Marc</forename><surname>Trocello</surname></persName><idno type="halAuthorId">407257</idno><affiliation ref="#struct-16622"></affiliation></author><author role="aut"><persName><forename type="first">Jean-Sébastien</forename><surname>Vidal</surname></persName><idno type="halAuthorId">214237</idno><affiliation ref="#struct-16622"></affiliation></author><author role="aut"><persName><forename type="first">Pascal</forename><surname>Masnou</surname></persName><idno type="halAuthorId">407258</idno><affiliation ref="#struct-14923"></affiliation></author><author role="aut"><persName><forename type="first">Laurent</forename><surname>Vercueil</surname></persName><idno type="halAuthorId">399644</idno><affiliation ref="#struct-70943"></affiliation></author><author role="aut"><persName><forename type="first">Marie</forename><surname>Vidailhet</surname></persName><idno type="halAuthorId">216232</idno><affiliation ref="#struct-16622"></affiliation><affiliation ref="#struct-23330"></affiliation></author></analytic><monogr><idno type="halJournalId" status="VALID">17211</idno><idno type="issn">0885-3185</idno><idno type="eissn">1531-8257</idno><title level="j">Movement Disorders</title><imprint><publisher>Wiley</publisher><biblScope unit="volume">21</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="pp">599-608</biblScope><date type="datePub">2006-05</date></imprint></monogr><idno type="doi">10.1002/mds.20725</idno><idno type="pubmed">16281296</idno></biblStruct></sourceDesc><profileDesc><langUsage><language ident="en">English</language></langUsage><textClass><classCode scheme="mesh">Adult</classCode><classCode scheme="mesh">Age of Onset</classCode><classCode scheme="mesh">Female</classCode><classCode scheme="mesh">Humans</classCode><classCode scheme="mesh">Male</classCode><classCode scheme="mesh">Middle Aged</classCode><classCode scheme="mesh">Myoclonus</classCode><classCode scheme="mesh">Reaction Time</classCode><classCode scheme="mesh">Reflex</classCode><classCode scheme="mesh">Cerebral Cortex</classCode><classCode scheme="mesh">Diagnosis, Differential</classCode><classCode scheme="mesh">Electroencephalography</classCode><classCode scheme="mesh">Electromyography</classCode><classCode scheme="mesh">Epilepsy</classCode><classCode scheme="mesh">Essential Tremor</classCode><classCode scheme="mesh">Evoked Potentials, Somatosensory</classCode><classCode scheme="mesh">Family Health</classCode><classCode scheme="halTypology" n="ART">Journal articles</classCode></textClass><abstract xml:lang="en">Familial cortical myoclonic tremor (FCMT) is a rare disorder often leading to a wrong clinical diagnosis of essential tremor. Electrophysiological data are usually considered to allow a correct diagnosis. We describe a FCMT French family with previously unreported clinical features such as sensitivity to glucose deprivation, vibration, repetitive visual patterns, and intense visual or auditory stimulation and contrasts. Electrophysiological studies of the propositus confirm the cortical reflex myoclonus elicited by photic stimulation and the absence of epileptic electroencephalographic discharges. We emphasize that a precise clinical analysis can lead to a correct diagnosis before electrophysiological confirmation. This is also the first-ever report of efficacy of levetiracetam in FCMT.</abstract><particDesc><org type="consortium">Collaboration</org></particDesc></profileDesc></hal></record>Pour manipuler ce document sous Unix (Dilib)
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