Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients
Identifieur interne : 001F93 ( Istex/Corpus ); précédent : 001F92; suivant : 001F94Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients
Auteurs : Nataša T. Dragaševi ; Biljana Uljkovi ; Christine Klein ; Aleksandar Risti ; Milica Keckarevi ; Ivan Topisirovi ; Slobodanka Vukosavi ; Marina Svetel ; Norman Kock ; Elka Stefanova ; Stanka Romac ; Vladimir S. KostiSource :
- Movement Disorders [ 0885-3185 ] ; 2006-02.
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Abstract
The relative frequencies of different spinocerebellar ataxias (SCAs) vary widely among different ethnic groups, presumably due to a founder effect. We investigated the relative prevalence of SCA1–3, 6–8, 12, 17; dentate–rubro–pallidoluysian atrophy; and Friedreich's ataxia (FRDA) in Serbian patients with adult‐onset (>20 years of age) hereditary and sporadic SCAs, and compared clinical features of patients with genetically confirmed SCAs. A total of 108 patients from 54 families (38 apparently dominant [ADCA] and 16 apparently recessive) with adult‐onset hereditary ataxia and 75 apparently sporadic patients were assessed. Of 38 families with ADCA, 13 (34%) were positive for an expansion in an SCA1 and 5 families (13%) for an expansion in an SCA2 allele. In 20 families (53%), no expansions have been identified in any of the analyzed genes. Gaze palsy, spasticity, and hyperreflexia were significantly more common in SCA1, whereas slow saccades, hypotonia, hyporeflexia, and dystonia prevailed in SCA2 patients. Among the 16 families with an apparently recessive mode of ataxia inheritance, 4 (25%) were identified as having the FRDA mutation. Ataxia‐causing mutations were identified in 8 (10.6%) of patients with apparently sporadic adult‐onset ataxia. © 2005 Movement Disorder Society
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DOI: 10.1002/mds.20687
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Dragaševi</name><affiliation><mods:affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</mods:affiliation></affiliation></author><author><name sortKey=" Uljkovi, Biljana" sort=" Uljkovi, Biljana" uniqKey=" Uljkovi B" first="Biljana" last=" Uljkovi">Biljana Uljkovi</name><affiliation><mods:affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</mods:affiliation></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation><mods:affiliation>Departments of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Risti, Aleksandar" sort="Risti, Aleksandar" uniqKey="Risti A" first="Aleksandar" last="Risti">Aleksandar Risti</name><affiliation><mods:affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</mods:affiliation></affiliation></author><author><name sortKey="Keckarevi, Milica" sort="Keckarevi, Milica" uniqKey="Keckarevi M" first="Milica" last="Keckarevi">Milica Keckarevi</name><affiliation><mods:affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</mods:affiliation></affiliation></author><author><name sortKey="Topisirovi, Ivan" sort="Topisirovi, Ivan" uniqKey="Topisirovi I" first="Ivan" last="Topisirovi">Ivan Topisirovi</name><affiliation><mods:affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</mods:affiliation></affiliation></author><author><name sortKey="Vukosavi, Slobodanka" sort="Vukosavi, Slobodanka" uniqKey="Vukosavi S" first="Slobodanka" last="Vukosavi">Slobodanka Vukosavi</name><affiliation><mods:affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</mods:affiliation></affiliation></author><author><name sortKey="Svetel, Marina" sort="Svetel, Marina" uniqKey="Svetel M" first="Marina" last="Svetel">Marina Svetel</name><affiliation><mods:affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</mods:affiliation></affiliation></author><author><name sortKey="Kock, Norman" sort="Kock, Norman" uniqKey="Kock N" first="Norman" last="Kock">Norman Kock</name><affiliation><mods:affiliation>Departments of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Stefanova, Elka" sort="Stefanova, Elka" uniqKey="Stefanova E" first="Elka" last="Stefanova">Elka Stefanova</name><affiliation><mods:affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</mods:affiliation></affiliation></author><author><name sortKey="Romac, Stanka" sort="Romac, Stanka" uniqKey="Romac S" first="Stanka" last="Romac">Stanka Romac</name><affiliation><mods:affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</mods:affiliation></affiliation></author><author><name sortKey="Kosti, Vladimir S" sort="Kosti, Vladimir S" uniqKey="Kosti V" first="Vladimir S." last="Kosti">Vladimir S. 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We investigated the relative prevalence of SCA1–3, 6–8, 12, 17; dentate–rubro–pallidoluysian atrophy; and Friedreich's ataxia (FRDA) in Serbian patients with adult‐onset (>20 years of age) hereditary and sporadic SCAs, and compared clinical features of patients with genetically confirmed SCAs. A total of 108 patients from 54 families (38 apparently dominant [ADCA] and 16 apparently recessive) with adult‐onset hereditary ataxia and 75 apparently sporadic patients were assessed. Of 38 families with ADCA, 13 (34%) were positive for an expansion in an SCA1 and 5 families (13%) for an expansion in an SCA2 allele. In 20 families (53%), no expansions have been identified in any of the analyzed genes. Gaze palsy, spasticity, and hyperreflexia were significantly more common in SCA1, whereas slow saccades, hypotonia, hyporeflexia, and dystonia prevailed in SCA2 patients. Among the 16 families with an apparently recessive mode of ataxia inheritance, 4 (25%) were identified as having the FRDA mutation. Ataxia‐causing mutations were identified in 8 (10.6%) of patients with apparently sporadic adult‐onset ataxia. © 2005 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Nataša T. Dragašević MD</name><affiliations><json:string>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</json:string></affiliations></json:item><json:item><name>Biljana Čuljković PhD</name><affiliations><json:string>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</json:string></affiliations></json:item><json:item><name>Christine Klein MD</name><affiliations><json:string>Departments of Neurology, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Aleksandar Ristić MD</name><affiliations><json:string>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</json:string></affiliations></json:item><json:item><name>Milica Keckarević PhD</name><affiliations><json:string>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</json:string></affiliations></json:item><json:item><name>Ivan Topisirović MD</name><affiliations><json:string>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</json:string></affiliations></json:item><json:item><name>Slobodanka Vukosavić MD</name><affiliations><json:string>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</json:string></affiliations></json:item><json:item><name>Marina Svetel MD</name><affiliations><json:string>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</json:string></affiliations></json:item><json:item><name>Norman Kock MD</name><affiliations><json:string>Departments of Neurology, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Elka Stefanova MD</name><affiliations><json:string>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</json:string></affiliations></json:item><json:item><name>Stanka Romac PhD</name><affiliations><json:string>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</json:string></affiliations></json:item><json:item><name>Vladimir S. Kostić MD</name><affiliations><json:string>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>autosomal dominant cerebellar ataxia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>SCA1</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>SCA2</value></json:item></subject><language><json:string>eng</json:string></language><abstract>The relative frequencies of different spinocerebellar ataxias (SCAs) vary widely among different ethnic groups, presumably due to a founder effect. We investigated the relative prevalence of SCA1–3, 6–8, 12, 17; dentate–rubro–pallidoluysian atrophy; and Friedreich's ataxia (FRDA) in Serbian patients with adult‐onset (>20 years of age) hereditary and sporadic SCAs, and compared clinical features of patients with genetically confirmed SCAs. A total of 108 patients from 54 families (38 apparently dominant [ADCA] and 16 apparently recessive) with adult‐onset hereditary ataxia and 75 apparently sporadic patients were assessed. Of 38 families with ADCA, 13 (34%) were positive for an expansion in an SCA1 and 5 families (13%) for an expansion in an SCA2 allele. In 20 families (53%), no expansions have been identified in any of the analyzed genes. Gaze palsy, spasticity, and hyperreflexia were significantly more common in SCA1, whereas slow saccades, hypotonia, hyporeflexia, and dystonia prevailed in SCA2 patients. Among the 16 families with an apparently recessive mode of ataxia inheritance, 4 (25%) were identified as having the FRDA mutation. Ataxia‐causing mutations were identified in 8 (10.6%) of patients with apparently sporadic adult‐onset ataxia. © 2005 Movement Disorder Society</abstract><qualityIndicators><score>5.266</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1297</abstractCharCount><pdfWordCount>2998</pdfWordCount><pdfCharCount>19598</pdfCharCount><pdfPageCount>5</pdfPageCount><abstractWordCount>189</abstractWordCount></qualityIndicators><title>Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients</title><genre><json:string>Serial article</json:string></genre><host><volume>21</volume><pages><total>5</total><last>191</last><first>187</first></pages><issn><json:string>0885-3185</json:string></issn><issue>2</issue><subject><json:item><value>Research Article</value></json:item></subject><genre></genre><language><json:string>unknown</json:string></language><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2006</publicationDate><copyrightDate>2006</copyrightDate><doi><json:string>10.1002/mds.20687</json:string></doi><id>4618203E5999BAC74B08A927EF85A7C9CC2444C7</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/4618203E5999BAC74B08A927EF85A7C9CC2444C7/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/4618203E5999BAC74B08A927EF85A7C9CC2444C7/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/4618203E5999BAC74B08A927EF85A7C9CC2444C7/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>Wiley Subscription Services, Inc., A Wiley Company</p></availability><date>2006</date></publicationStmt><notesStmt><note>Ministry of Science, Republic of Serbia - No. 1988;</note><note>Deutsche Dystonie Gesellschaft e.V.</note><note>Deutsche Forschungsgemeinschaft - No. KI‐1134/3‐1;</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients</title><author><persName><forename type="first">Nataša T.</forename><surname>Dragašević</surname><roleName type="degree">MD</roleName></persName><affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; 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Belgrade, Serbia and Montenegro</affiliation></author><author><persName><forename type="first">Norman</forename><surname>Kock</surname><roleName type="degree">MD</roleName></persName><affiliation>Departments of Neurology, University of Lübeck, Lübeck, Germany</affiliation></author><author><persName><forename type="first">Elka</forename><surname>Stefanova</surname><roleName type="degree">MD</roleName></persName><affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</affiliation></author><author><persName><forename type="first">Stanka</forename><surname>Romac</surname><roleName type="degree">PhD</roleName></persName><affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</affiliation></author><author><persName><forename type="first">Vladimir S.</forename><surname>Kostić</surname><roleName type="degree">MD</roleName></persName><note type="correspondence"><p>Correspondence: Institute of Neurology CCS, Ul. Dr Subotića 6, 11000 Belgrade, Serbia and Montenegro</p></note><affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2006-02"></date><biblScope unit="vol">21</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="187">187</biblScope><biblScope unit="page" to="191">191</biblScope></imprint></monogr><idno type="istex">4618203E5999BAC74B08A927EF85A7C9CC2444C7</idno><idno type="DOI">10.1002/mds.20687</idno><idno type="ArticleID">MDS20687</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2006</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>The relative frequencies of different spinocerebellar ataxias (SCAs) vary widely among different ethnic groups, presumably due to a founder effect. We investigated the relative prevalence of SCA1–3, 6–8, 12, 17; dentate–rubro–pallidoluysian atrophy; and Friedreich's ataxia (FRDA) in Serbian patients with adult‐onset (>20 years of age) hereditary and sporadic SCAs, and compared clinical features of patients with genetically confirmed SCAs. A total of 108 patients from 54 families (38 apparently dominant [ADCA] and 16 apparently recessive) with adult‐onset hereditary ataxia and 75 apparently sporadic patients were assessed. Of 38 families with ADCA, 13 (34%) were positive for an expansion in an SCA1 and 5 families (13%) for an expansion in an SCA2 allele. In 20 families (53%), no expansions have been identified in any of the analyzed genes. Gaze palsy, spasticity, and hyperreflexia were significantly more common in SCA1, whereas slow saccades, hypotonia, hyporeflexia, and dystonia prevailed in SCA2 patients. Among the 16 families with an apparently recessive mode of ataxia inheritance, 4 (25%) were identified as having the FRDA mutation. Ataxia‐causing mutations were identified in 8 (10.6%) of patients with apparently sporadic adult‐onset ataxia. © 2005 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>autosomal dominant cerebellar ataxia</term></item><item><term>SCA1</term></item><item><term>SCA2</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2005-03-06">Received</change><change when="2005-05-13">Registration</change><change when="2006-02">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/4618203E5999BAC74B08A927EF85A7C9CC2444C7/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="short">Mov. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="20"><doi origin="wiley" registered="yes">10.1002/mds.v21:2</doi><numberingGroup><numbering type="journalVolume" number="21">21</numbering><numbering type="journalIssue">2</numbering></numberingGroup><coverDate startDate="2006-02">February 2006</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="90" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.20687</doi><idGroup><id type="unit" value="MDS20687"></id></idGroup><countGroup><count type="pageTotal" number="5"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Research Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 2005 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2005-03-06"></event><event type="manuscriptRevised" date="2005-05-09"></event><event type="manuscriptAccepted" date="2005-05-13"></event><event type="firstOnline" date="2005-09-07"></event><event type="publishedOnlineFinalForm" date="2006-02-08"></event><event type="publishedOnlineAcceptedOrEarlyUnpaginated" date="2005-09-07"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.4.7 mode:FullText source:FullText result:FullText" date="2011-02-24"></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">187</numbering><numbering type="pageLast">191</numbering></numberingGroup><correspondenceTo>Institute of Neurology CCS, Ul. Dr Subotića 6, 11000 Belgrade, Serbia and Montenegro</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS20687.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="2"></count><count type="referenceTotal" number="31"></count><count type="wordTotal" number="3451"></count></countGroup><titleGroup><title type="main" xml:lang="en">Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients</title><title type="short" xml:lang="en">SCAs in Serbian Population</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Nataša T.</givenNames><familyName>Dragašević</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Biljana</givenNames><familyName>Čuljković</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Christine</givenNames><familyName>Klein</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Aleksandar</givenNames><familyName>Ristić</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Milica</givenNames><familyName>Keckarević</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Ivan</givenNames><familyName>Topisirović</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Slobodanka</givenNames><familyName>Vukosavić</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Marina</givenNames><familyName>Svetel</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Norman</givenNames><familyName>Kock</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Elka</givenNames><familyName>Stefanova</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Stanka</givenNames><familyName>Romac</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au12" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Vladimir S.</givenNames><familyName>Kostić</familyName><degrees>MD</degrees></personName><contactDetails><email>vkostic@sbb.co.yu</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="RS" type="organization"><unparsedAffiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="RS" type="organization"><unparsedAffiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="DE" type="organization"><unparsedAffiliation>Departments of Neurology, University of Lübeck, Lübeck, Germany</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">autosomal dominant cerebellar ataxia</keyword><keyword xml:id="kwd2">SCA1</keyword><keyword xml:id="kwd3">SCA2</keyword></keywordGroup><fundingInfo><fundingAgency>Ministry of Science, Republic of Serbia</fundingAgency><fundingNumber>1988</fundingNumber></fundingInfo><fundingInfo><fundingAgency>Deutsche Dystonie Gesellschaft e.V.</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Deutsche Forschungsgemeinschaft</fundingAgency><fundingNumber>KI‐1134/3‐1</fundingNumber></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>The relative frequencies of different spinocerebellar ataxias (SCAs) vary widely among different ethnic groups, presumably due to a founder effect. We investigated the relative prevalence of SCA1–3, 6–8, 12, 17; dentate–rubro–pallidoluysian atrophy; and Friedreich's ataxia (FRDA) in Serbian patients with adult‐onset (>20 years of age) hereditary and sporadic SCAs, and compared clinical features of patients with genetically confirmed SCAs. A total of 108 patients from 54 families (38 apparently dominant [ADCA] and 16 apparently recessive) with adult‐onset hereditary ataxia and 75 apparently sporadic patients were assessed. Of 38 families with ADCA, 13 (34%) were positive for an expansion in an SCA1 and 5 families (13%) for an expansion in an SCA2 allele. In 20 families (53%), no expansions have been identified in any of the analyzed genes. Gaze palsy, spasticity, and hyperreflexia were significantly more common in SCA1, whereas slow saccades, hypotonia, hyporeflexia, and dystonia prevailed in SCA2 patients. Among the 16 families with an apparently recessive mode of ataxia inheritance, 4 (25%) were identified as having the FRDA mutation. Ataxia‐causing mutations were identified in 8 (10.6%) of patients with apparently sporadic adult‐onset ataxia. © 2005 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>Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>SCAs in Serbian Population</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients</title></titleInfo><name type="personal"><namePart type="given">Nataša T.</namePart><namePart type="family">Dragašević</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Biljana</namePart><namePart type="family">Čuljković</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christine</namePart><namePart type="family">Klein</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Departments of Neurology, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Aleksandar</namePart><namePart type="family">Ristić</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Milica</namePart><namePart type="family">Keckarević</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ivan</namePart><namePart type="family">Topisirović</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Slobodanka</namePart><namePart type="family">Vukosavić</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marina</namePart><namePart type="family">Svetel</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Norman</namePart><namePart type="family">Kock</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Departments of Neurology, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Elka</namePart><namePart type="family">Stefanova</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Stanka</namePart><namePart type="family">Romac</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>PCR Center, Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Vladimir S.</namePart><namePart type="family">Kostić</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Neurology CCS, Medical School, University of Belgrade; Belgrade, Serbia and Montenegro</affiliation><description>Correspondence: Institute of Neurology CCS, Ul. Dr Subotića 6, 11000 Belgrade, Serbia and Montenegro</description><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">2006-02</dateIssued><dateCaptured encoding="w3cdtf">2005-03-06</dateCaptured><dateValid encoding="w3cdtf">2005-05-13</dateValid><copyrightDate encoding="w3cdtf">2006</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">2</extent><extent unit="references">31</extent><extent unit="words">3451</extent></physicalDescription><abstract lang="en">The relative frequencies of different spinocerebellar ataxias (SCAs) vary widely among different ethnic groups, presumably due to a founder effect. We investigated the relative prevalence of SCA1–3, 6–8, 12, 17; dentate–rubro–pallidoluysian atrophy; and Friedreich's ataxia (FRDA) in Serbian patients with adult‐onset (>20 years of age) hereditary and sporadic SCAs, and compared clinical features of patients with genetically confirmed SCAs. A total of 108 patients from 54 families (38 apparently dominant [ADCA] and 16 apparently recessive) with adult‐onset hereditary ataxia and 75 apparently sporadic patients were assessed. Of 38 families with ADCA, 13 (34%) were positive for an expansion in an SCA1 and 5 families (13%) for an expansion in an SCA2 allele. In 20 families (53%), no expansions have been identified in any of the analyzed genes. Gaze palsy, spasticity, and hyperreflexia were significantly more common in SCA1, whereas slow saccades, hypotonia, hyporeflexia, and dystonia prevailed in SCA2 patients. Among the 16 families with an apparently recessive mode of ataxia inheritance, 4 (25%) were identified as having the FRDA mutation. Ataxia‐causing mutations were identified in 8 (10.6%) of patients with apparently sporadic adult‐onset ataxia. © 2005 Movement Disorder Society</abstract><note type="funding">Ministry of Science, Republic of Serbia - No. 1988; </note><note type="funding">Deutsche Dystonie Gesellschaft e.V.</note><note type="funding">Deutsche Forschungsgemeinschaft - No. KI‐1134/3‐1; </note><subject lang="en"><genre>Keywords</genre><topic>autosomal dominant cerebellar ataxia</topic><topic>SCA1</topic><topic>SCA2</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>Research 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>2006</date><detail type="volume"><caption>vol.</caption><number>21</number></detail><detail type="issue"><caption>no.</caption><number>2</number></detail><extent unit="pages"><start>187</start><end>191</end><total>5</total></extent></part></relatedItem><identifier type="istex">4618203E5999BAC74B08A927EF85A7C9CC2444C7</identifier><identifier type="DOI">10.1002/mds.20687</identifier><identifier type="ArticleID">MDS20687</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2005 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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