Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients
Identifieur interne : 001316 ( Istex/Corpus ); précédent : 001315; suivant : 001317Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients
Auteurs : Hélio A. G. Teive ; Renato P. Munhoz ; Salmo Raskin ; Walter O. Arruda ; Luciano De Paola ; Lineu C. Werneck ; Tetsuo AshizawaSource :
- Movement Disorders [ 0885-3185 ] ; 2010-12-15.
English descriptors
Abstract
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder caused by an ATTCT repeat intronic expansion in the SCA10 gene. SCA 10 has been reported in Mexican, Brazilian, Argentinean and Venezuelan families. Its phenotype is overall characterized by cerebellar ataxia and epilepsy. Interestingly, Brazilian patients reported so far showed pure cerebellar ataxia, without epilepsy. Here, authors provide a systematic analysis of the presence, frequency and electroencephalographic presentation of epilepsy among 80 SCA10 patients from 10 Brazilian families. Overall, the frequency of epilepsy was considered rare, been found in 3.75 % of the cases while this finding in populations from other geographic areas reaches 60% of SCA10 cases. © 2010 Movement Disorder Society
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DOI: 10.1002/mds.23324
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ISTEX:C6048140BB27DED1C9D458B213A803F46AA2DE92Le document en format XML
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SCA 10 has been reported in Mexican, Brazilian, Argentinean and Venezuelan families. Its phenotype is overall characterized by cerebellar ataxia and epilepsy. Interestingly, Brazilian patients reported so far showed pure cerebellar ataxia, without epilepsy. Here, authors provide a systematic analysis of the presence, frequency and electroencephalographic presentation of epilepsy among 80 SCA10 patients from 10 Brazilian families. Overall, the frequency of epilepsy was considered rare, been found in 3.75 % of the cases while this finding in populations from other geographic areas reaches 60% of SCA10 cases. © 2010 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Hélio A.G. Teive</name><affiliations><json:string>Department of Internal Medicine, Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil</json:string></affiliations></json:item><json:item><name>Renato P. 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Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="160"><doi origin="wiley" registered="yes">10.1002/mds.v25.16</doi><numberingGroup><numbering type="journalVolume" number="25">25</numbering><numbering type="journalIssue">16</numbering></numberingGroup><coverDate startDate="2010-12-15">15 December 2010</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="260" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.23324</doi><idGroup><id type="unit" value="MDS23324"></id></idGroup><countGroup><count type="pageTotal" number="4"></count></countGroup><titleGroup><title type="articleCategory">Brief Report</title><title type="tocHeading1">Brief Reports</title></titleGroup><copyright ownership="thirdParty">Copyright © 2010 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2010-03-03"></event><event type="manuscriptRevised" date="2010-05-04"></event><event type="manuscriptAccepted" date="2010-06-01"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.4 mode:FullText" date="2010-12-16"></event><event type="publishedOnlineEarlyUnpaginated" date="2010-09-03"></event><event type="firstOnline" date="2010-09-03"></event><event type="publishedOnlineFinalForm" date="2010-12-16"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst">2875</numbering><numbering type="pageLast">2878</numbering></numberingGroup><correspondenceTo>Rua General Carneiro 1103/102, Centro, Curitiba, Paraná 80060‐150, Brazil</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS23324.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="18"></count><count type="wordTotal" number="2615"></count></countGroup><titleGroup><title type="main" xml:lang="en">Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients<link href="#fn1"></link></title><title type="short" xml:lang="en">Epilepsy in Brazilian SCA10 Patients</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Hélio A.G.</givenNames><familyName>Teive</familyName></personName><contactDetails><email>hagteive@mps.com.br</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Renato P.</givenNames><familyName>Munhoz</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Salmo</givenNames><familyName>Raskin</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Walter O.</givenNames><familyName>Arruda</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Luciano</givenNames><familyName>de Paola</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Lineu C.</givenNames><familyName>Werneck</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Tetsuo</givenNames><familyName>Ashizawa</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="BR" type="organization"><unparsedAffiliation>Department of Internal Medicine, Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, University of Florida, Gainesville, Florida, USA</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">spinocerebellar ataxia type 10</keyword><keyword xml:id="kwd2">SCA</keyword><keyword xml:id="kwd3">autosomal dominant cerebellar ataxia</keyword><keyword xml:id="kwd4">epilepsy</keyword></keywordGroup><fundingInfo><fundingAgency>NIH</fundingAgency><fundingNumber>NS041547</fundingNumber></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder caused by an ATTCT repeat intronic expansion in the SCA10 gene. SCA 10 has been reported in Mexican, Brazilian, Argentinean and Venezuelan families. Its phenotype is overall characterized by cerebellar ataxia and epilepsy. Interestingly, Brazilian patients reported so far showed pure cerebellar ataxia, without epilepsy. Here, authors provide a systematic analysis of the presence, frequency and electroencephalographic presentation of epilepsy among 80 SCA10 patients from 10 Brazilian families. Overall, the frequency of epilepsy was considered rare, been found in 3.75 % of the cases while this finding in populations from other geographic areas reaches 60% of SCA10 cases. © 2010 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Potential conflict of interest: Nothing to report.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Epilepsy in Brazilian SCA10 Patients</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients</title></titleInfo><name type="personal"><namePart type="given">Hélio A.G.</namePart><namePart type="family">Teive</namePart><affiliation>Department of Internal Medicine, Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil</affiliation><description>Correspondence: Rua General Carneiro 1103/102, Centro, Curitiba, Paraná 80060‐150, Brazil</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Renato P.</namePart><namePart type="family">Munhoz</namePart><affiliation>Department of Internal Medicine, Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Salmo</namePart><namePart type="family">Raskin</namePart><affiliation>Department of Internal Medicine, Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Walter O.</namePart><namePart type="family">Arruda</namePart><affiliation>Department of Internal Medicine, Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Luciano</namePart><namePart type="family">de Paola</namePart><affiliation>Department of Internal Medicine, Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lineu C.</namePart><namePart type="family">Werneck</namePart><affiliation>Department of Internal Medicine, Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Tetsuo</namePart><namePart type="family">Ashizawa</namePart><affiliation>Department of Neurology, University of Florida, Gainesville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2010-12-15</dateIssued><dateCaptured encoding="w3cdtf">2010-03-03</dateCaptured><dateValid encoding="w3cdtf">2010-06-01</dateValid><copyrightDate encoding="w3cdtf">2010</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="tables">1</extent><extent unit="references">18</extent><extent unit="words">2615</extent></physicalDescription><abstract lang="en">Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder caused by an ATTCT repeat intronic expansion in the SCA10 gene. SCA 10 has been reported in Mexican, Brazilian, Argentinean and Venezuelan families. Its phenotype is overall characterized by cerebellar ataxia and epilepsy. Interestingly, Brazilian patients reported so far showed pure cerebellar ataxia, without epilepsy. Here, authors provide a systematic analysis of the presence, frequency and electroencephalographic presentation of epilepsy among 80 SCA10 patients from 10 Brazilian families. Overall, the frequency of epilepsy was considered rare, been found in 3.75 % of the cases while this finding in populations from other geographic areas reaches 60% of SCA10 cases. © 2010 Movement Disorder Society</abstract><note type="content">*Potential conflict of interest: Nothing to report.</note><note type="funding">NIH - No. NS041547; </note><subject lang="en"><genre>Keywords</genre><topic>spinocerebellar ataxia type 10</topic><topic>SCA</topic><topic>autosomal dominant cerebellar ataxia</topic><topic>epilepsy</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>Brief Report</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>2010</date><detail type="volume"><caption>vol.</caption><number>25</number></detail><detail type="issue"><caption>no.</caption><number>16</number></detail><extent unit="pages"><start>2875</start><end>2878</end><total>4</total></extent></part></relatedItem><identifier type="istex">C6048140BB27DED1C9D458B213A803F46AA2DE92</identifier><identifier type="DOI">10.1002/mds.23324</identifier><identifier type="ArticleID">MDS23324</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2010 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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