Co‐Occurrence of infantile epileptic seizures and childhood paroxysmal choreoathetosis in one family: Clinical, EEG, and SPECT characterization of episodic events
Identifieur interne : 001145 ( Istex/Corpus ); précédent : 001144; suivant : 001146Co‐Occurrence of infantile epileptic seizures and childhood paroxysmal choreoathetosis in one family: Clinical, EEG, and SPECT characterization of episodic events
Auteurs : Anne Thiriaux ; Anne De St Martin ; Laurent Vercueil ; Fabrice Battaglia ; Jean-Paul Armspach ; Edouard Hirsch ; Christian Marescaux ; Izzie J. NamerSource :
- Movement Disorders [ 0885-3185 ] ; 2002-01.
English descriptors
Abstract
The co‐occurrence of infantile convulsions and childhood paroxysmal choreoathetosis (ICCA syndrome) has recently been reported in several families. The pattern of familial clustering observed is consistent with a single locus mutation which has been mapped onto the pericentromeric region of chromosome 16. We studied the main clinical, electroencephalogram (EEG), and single photon emission computed tomography (SPECT) characteristics of episodic events in a new family presenting clinical features similar to that described in the ICCA syndrome. In the first year of life, a mother and her two daughters suffered from rare afebrile seizures lasting from 30 seconds to 15 minutes. Ictal EEG recording in one daughter at 7 months of age showed bilateral polyspikes with a posterior predominance. In the three patients, epileptic seizures regressed within a few weeks, and never reoccurred. At the age of 7 and 12 years, respectively, the two daughters presented daily brief (20 seconds to 1 minute) involuntary choreoathetotic episodes. In 10 of these attacks, EEG did not show any epileptiform abnormalities. In both sisters, an ictal SPECT was performed during a choreoathetotic episode. Subtracting the ictal SPECT from the interictal SPECT coregistered to magnetic resonance imaging (MRI) revealed significant modifications in the local cerebral perfusion in the sensorimotor cortex, the supplementary motor areas, and pallidum. Carbamazepine completely suppressed paroxysmal dyskinesias. These observations, together with literature data, suggest that in this syndrome, depending on brain maturation, the same genetic abnormality may result in different paroxysmal neurological symptoms. © 2001 Movement Disorder Society.
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DOI: 10.1002/mds.1195
Links to Exploration step
ISTEX:DEFE6B7F841D0A219DD1CF7B1FDAC2D0C10AFBFBLe document en format XML
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The pattern of familial clustering observed is consistent with a single locus mutation which has been mapped onto the pericentromeric region of chromosome 16. We studied the main clinical, electroencephalogram (EEG), and single photon emission computed tomography (SPECT) characteristics of episodic events in a new family presenting clinical features similar to that described in the ICCA syndrome. In the first year of life, a mother and her two daughters suffered from rare afebrile seizures lasting from 30 seconds to 15 minutes. Ictal EEG recording in one daughter at 7 months of age showed bilateral polyspikes with a posterior predominance. In the three patients, epileptic seizures regressed within a few weeks, and never reoccurred. At the age of 7 and 12 years, respectively, the two daughters presented daily brief (20 seconds to 1 minute) involuntary choreoathetotic episodes. In 10 of these attacks, EEG did not show any epileptiform abnormalities. In both sisters, an ictal SPECT was performed during a choreoathetotic episode. Subtracting the ictal SPECT from the interictal SPECT coregistered to magnetic resonance imaging (MRI) revealed significant modifications in the local cerebral perfusion in the sensorimotor cortex, the supplementary motor areas, and pallidum. Carbamazepine completely suppressed paroxysmal dyskinesias. These observations, together with literature data, suggest that in this syndrome, depending on brain maturation, the same genetic abnormality may result in different paroxysmal neurological symptoms. © 2001 Movement Disorder Society.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Anne Thiriaux MD</name><affiliations><json:string>Unité d'Explorations Fonctionnelles des Epilepsies, Hopitaux Universitaires de Strasbourg, France</json:string></affiliations></json:item><json:item><name>Anne de St Martin MD</name><affiliations><json:string>Service de Pédiatrie I, Hopitaux Universitaires de Strasbourg, France</json:string></affiliations></json:item><json:item><name>Laurent Vercueil MD</name><affiliations><json:string>Unité d'Explorations Fonctionnelles des Epilepsies, Hopitaux Universitaires de Strasbourg, France</json:string><json:string>INSERM U398, Faculté de Médecine, Strasbourg, France</json:string></affiliations></json:item><json:item><name>Fabrice Battaglia MD</name><affiliations><json:string>Unité d'Explorations Fonctionnelles des Epilepsies, Hopitaux Universitaires de Strasbourg, France</json:string></affiliations></json:item><json:item><name>Jean‐Paul Armspach PhD</name><affiliations><json:string>Institut de Physique Biologique (UPRES‐A 7004 ULP/CNRS), Faculté de Médecine, Strasbourg, France</json:string></affiliations></json:item><json:item><name>Edouard Hirsch MD</name><affiliations><json:string>Unité d'Explorations Fonctionnelles des Epilepsies, Hopitaux Universitaires de Strasbourg, France</json:string></affiliations></json:item><json:item><name>Christian Marescaux MD</name><affiliations><json:string>Unité d'Explorations Fonctionnelles des Epilepsies, Hopitaux Universitaires de Strasbourg, France</json:string><json:string>INSERM U398, Faculté de Médecine, Strasbourg, France</json:string></affiliations></json:item><json:item><name>Izzie J. 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We studied the main clinical, electroencephalogram (EEG), and single photon emission computed tomography (SPECT) characteristics of episodic events in a new family presenting clinical features similar to that described in the ICCA syndrome. In the first year of life, a mother and her two daughters suffered from rare afebrile seizures lasting from 30 seconds to 15 minutes. Ictal EEG recording in one daughter at 7 months of age showed bilateral polyspikes with a posterior predominance. In the three patients, epileptic seizures regressed within a few weeks, and never reoccurred. At the age of 7 and 12 years, respectively, the two daughters presented daily brief (20 seconds to 1 minute) involuntary choreoathetotic episodes. In 10 of these attacks, EEG did not show any epileptiform abnormalities. In both sisters, an ictal SPECT was performed during a choreoathetotic episode. Subtracting the ictal SPECT from the interictal SPECT coregistered to magnetic resonance imaging (MRI) revealed significant modifications in the local cerebral perfusion in the sensorimotor cortex, the supplementary motor areas, and pallidum. Carbamazepine completely suppressed paroxysmal dyskinesias. 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The pattern of familial clustering observed is consistent with a single locus mutation which has been mapped onto the pericentromeric region of chromosome 16. We studied the main clinical, electroencephalogram (EEG), and single photon emission computed tomography (SPECT) characteristics of episodic events in a new family presenting clinical features similar to that described in the ICCA syndrome. In the first year of life, a mother and her two daughters suffered from rare afebrile seizures lasting from 30 seconds to 15 minutes. Ictal EEG recording in one daughter at 7 months of age showed bilateral polyspikes with a posterior predominance. In the three patients, epileptic seizures regressed within a few weeks, and never reoccurred. At the age of 7 and 12 years, respectively, the two daughters presented daily brief (20 seconds to 1 minute) involuntary choreoathetotic episodes. In 10 of these attacks, EEG did not show any epileptiform abnormalities. In both sisters, an ictal SPECT was performed during a choreoathetotic episode. Subtracting the ictal SPECT from the interictal SPECT coregistered to magnetic resonance imaging (MRI) revealed significant modifications in the local cerebral perfusion in the sensorimotor cortex, the supplementary motor areas, and pallidum. Carbamazepine completely suppressed paroxysmal dyskinesias. 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Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="10"><doi origin="wiley" registered="yes">10.1002/mds.v17:1</doi><numberingGroup><numbering type="journalVolume" number="17">17</numbering><numbering type="journalIssue">1</numbering></numberingGroup><coverDate startDate="2002-01">January/February 2002</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="16" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.1195</doi><idGroup><id type="unit" value="MDS1195"></id></idGroup><countGroup><count type="pageTotal" number="7"></count></countGroup><titleGroup><title type="articleCategory">Article</title><title type="tocHeading1">Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 2002 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="1999-10-28"></event><event type="manuscriptRevised" date="2001-01-23"></event><event type="manuscriptAccepted" 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href="file:MDS.MDS1195.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="5"></count><count type="tableTotal" number="0"></count><count type="referenceTotal" number="36"></count><count type="wordTotal" number="3458"></count></countGroup><titleGroup><title type="main" xml:lang="en">Co‐Occurrence of infantile epileptic seizures and childhood paroxysmal choreoathetosis in one family: Clinical, EEG, and SPECT characterization of episodic events</title><title type="short" xml:lang="en">Infantile Epileptic Seizures and Childhood Paroxysmal Choreoathetosis</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Anne</givenNames><familyName>Thiriaux</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Anne</givenNames><familyName>de St Martin</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1 #af3"><personName><givenNames>Laurent</givenNames><familyName>Vercueil</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Fabrice</givenNames><familyName>Battaglia</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Jean‐Paul</givenNames><familyName>Armspach</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Edouard</givenNames><familyName>Hirsch</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af1 #af3"><personName><givenNames>Christian</givenNames><familyName>Marescaux</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af4" corresponding="yes"><personName><givenNames>Izzie J.</givenNames><familyName>Namer</familyName><degrees>MD, PhD</degrees></personName><contactDetails><email normalForm="namer@ipb.u-strasbg.fr">namer@ipb.u‐strasbg.fr</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="FR" type="organization"><unparsedAffiliation>Unité d'Explorations Fonctionnelles des Epilepsies, Hopitaux Universitaires de Strasbourg, France</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="FR" type="organization"><unparsedAffiliation>Service de Pédiatrie I, Hopitaux Universitaires de Strasbourg, France</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="FR" type="organization"><unparsedAffiliation>INSERM U398, Faculté de Médecine, Strasbourg, France</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="FR" type="organization"><unparsedAffiliation>Institut de Physique Biologique (UPRES‐A 7004 ULP/CNRS), Faculté de Médecine, Strasbourg, France</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">paroxysmal dyskinesia</keyword><keyword xml:id="kwd2">epilepsy</keyword><keyword xml:id="kwd3">benign infantile familial convulsions</keyword><keyword xml:id="kwd4">SPECT</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>The co‐occurrence of infantile convulsions and childhood paroxysmal choreoathetosis (ICCA syndrome) has recently been reported in several families. The pattern of familial clustering observed is consistent with a single locus mutation which has been mapped onto the pericentromeric region of chromosome 16. We studied the main clinical, electroencephalogram (EEG), and single photon emission computed tomography (SPECT) characteristics of episodic events in a new family presenting clinical features similar to that described in the ICCA syndrome. In the first year of life, a mother and her two daughters suffered from rare afebrile seizures lasting from 30 seconds to 15 minutes. Ictal EEG recording in one daughter at 7 months of age showed bilateral polyspikes with a posterior predominance. In the three patients, epileptic seizures regressed within a few weeks, and never reoccurred. At the age of 7 and 12 years, respectively, the two daughters presented daily brief (20 seconds to 1 minute) involuntary choreoathetotic episodes. In 10 of these attacks, EEG did not show any epileptiform abnormalities. In both sisters, an ictal SPECT was performed during a choreoathetotic episode. Subtracting the ictal SPECT from the interictal SPECT coregistered to magnetic resonance imaging (MRI) revealed significant modifications in the local cerebral perfusion in the sensorimotor cortex, the supplementary motor areas, and pallidum. Carbamazepine completely suppressed paroxysmal dyskinesias. These observations, together with literature data, suggest that in this syndrome, depending on brain maturation, the same genetic abnormality may result in different paroxysmal neurological symptoms. © 2001 Movement Disorder Society.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Co‐Occurrence of infantile epileptic seizures and childhood paroxysmal choreoathetosis in one family: Clinical, EEG, and SPECT characterization of episodic events</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Infantile Epileptic Seizures and Childhood Paroxysmal Choreoathetosis</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Co‐Occurrence of infantile epileptic seizures and childhood paroxysmal choreoathetosis in one family: Clinical, EEG, and SPECT characterization of episodic events</title></titleInfo><name type="personal"><namePart type="given">Anne</namePart><namePart type="family">Thiriaux</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Unité d'Explorations Fonctionnelles des Epilepsies, Hopitaux Universitaires de Strasbourg, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anne</namePart><namePart type="family">de St Martin</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Service de Pédiatrie I, Hopitaux Universitaires de Strasbourg, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Laurent</namePart><namePart type="family">Vercueil</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Unité d'Explorations Fonctionnelles des Epilepsies, Hopitaux Universitaires de Strasbourg, France</affiliation><affiliation>INSERM U398, Faculté de Médecine, Strasbourg, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Fabrice</namePart><namePart type="family">Battaglia</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Unité d'Explorations Fonctionnelles des Epilepsies, Hopitaux Universitaires de Strasbourg, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jean‐Paul</namePart><namePart type="family">Armspach</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Institut de Physique Biologique (UPRES‐A 7004 ULP/CNRS), Faculté de Médecine, Strasbourg, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Edouard</namePart><namePart type="family">Hirsch</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Unité d'Explorations Fonctionnelles des Epilepsies, Hopitaux Universitaires de Strasbourg, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christian</namePart><namePart type="family">Marescaux</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Unité d'Explorations Fonctionnelles des Epilepsies, Hopitaux Universitaires de Strasbourg, France</affiliation><affiliation>INSERM U398, Faculté de Médecine, Strasbourg, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Izzie J.</namePart><namePart type="family">Namer</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Institut de Physique Biologique (UPRES‐A 7004 ULP/CNRS), Faculté de Médecine, Strasbourg, France</affiliation><description>Correspondence: Institut de Physique Biologique, Faculté de Médecine, 4, rue Kirschleger, 67085 Strasbourg Cedex, France</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>John Wiley & Sons, Inc.</publisher><place><placeTerm type="text">New York</placeTerm></place><dateIssued encoding="w3cdtf">2002-01</dateIssued><dateCaptured encoding="w3cdtf">1999-10-28</dateCaptured><dateValid encoding="w3cdtf">2001-01-29</dateValid><copyrightDate encoding="w3cdtf">2002</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">5</extent><extent unit="references">36</extent><extent unit="words">3458</extent></physicalDescription><abstract lang="en">The co‐occurrence of infantile convulsions and childhood paroxysmal choreoathetosis (ICCA syndrome) has recently been reported in several families. The pattern of familial clustering observed is consistent with a single locus mutation which has been mapped onto the pericentromeric region of chromosome 16. We studied the main clinical, electroencephalogram (EEG), and single photon emission computed tomography (SPECT) characteristics of episodic events in a new family presenting clinical features similar to that described in the ICCA syndrome. In the first year of life, a mother and her two daughters suffered from rare afebrile seizures lasting from 30 seconds to 15 minutes. Ictal EEG recording in one daughter at 7 months of age showed bilateral polyspikes with a posterior predominance. In the three patients, epileptic seizures regressed within a few weeks, and never reoccurred. At the age of 7 and 12 years, respectively, the two daughters presented daily brief (20 seconds to 1 minute) involuntary choreoathetotic episodes. In 10 of these attacks, EEG did not show any epileptiform abnormalities. In both sisters, an ictal SPECT was performed during a choreoathetotic episode. Subtracting the ictal SPECT from the interictal SPECT coregistered to magnetic resonance imaging (MRI) revealed significant modifications in the local cerebral perfusion in the sensorimotor cortex, the supplementary motor areas, and pallidum. Carbamazepine completely suppressed paroxysmal dyskinesias. These observations, together with literature data, suggest that in this syndrome, depending on brain maturation, the same genetic abnormality may result in different paroxysmal neurological symptoms. © 2001 Movement Disorder Society.</abstract><subject lang="en"><genre>Keywords</genre><topic>paroxysmal dyskinesia</topic><topic>epilepsy</topic><topic>benign infantile familial convulsions</topic><topic>SPECT</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><subject><genre>article category</genre><topic>Article</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2002</date><detail type="volume"><caption>vol.</caption><number>17</number></detail><detail type="issue"><caption>no.</caption><number>1</number></detail><extent unit="pages"><start>98</start><end>104</end><total>7</total></extent></part></relatedItem><identifier type="istex">DEFE6B7F841D0A219DD1CF7B1FDAC2D0C10AFBFB</identifier><identifier type="DOI">10.1002/mds.1195</identifier><identifier type="ArticleID">MDS1195</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2002 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>John Wiley & Sons, Inc.</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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