Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population
Identifieur interne : 002F53 ( Istex/Corpus ); précédent : 002F52; suivant : 002F54Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population
Auteurs : Elisa Alonso ; Leticia Martínez-Ruano ; Irene De Biase ; Christopher Mader ; Adriana Ochoa ; Petra Yescas ; Roxana Gutiérrez ; Misti White ; Luís Ruano ; Marcela Fragoso-Benítez ; Tetsuo Ashizawa ; Sanjay I. Bidichandani ; Astrid RasmussenSource :
- Movement Disorders [ 0885-3185 ] ; 2007-05-15.
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Abstract
Dominant ataxias show wide geographic variation. We analyzed 108 dominant families and 123 sporadic ataxia patients from Mexico for mutations causing SCA1–3, 6–8, 10, 12, 17 and DRPLA. Only 18.5% of dominant families remained undiagnosed; SCA2 accounted for half (45.4%), followed by SCA10 (13.9%), SCA3 (12%), SCA7 (7.4%), and SCA17 (2.8%). None had SCA1, 6, 8, 12 or DRPLA. Among sporadic cases, 6 had SCA2 (4.9%), and 2 had SCA17 (1.6%). In the SCA2 patients we identified 6 individuals with the rare (CAG)33 allele, 2 of whom showed early onset ataxia. The distribution of dominant ataxia mutations in Mexicans is distinct from other populations. © 2007 Movement Disorder Society
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DOI: 10.1002/mds.21470
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last="Martínez-Ruano">Leticia Martínez-Ruano</name><affiliation><mods:affiliation>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico</mods:affiliation></affiliation></author><author><name sortKey="De Biase, Irene" sort="De Biase, Irene" uniqKey="De Biase I" first="Irene" last="De Biase">Irene De Biase</name><affiliation><mods:affiliation>Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA</mods:affiliation></affiliation></author><author><name sortKey="Mader, Christopher" sort="Mader, Christopher" uniqKey="Mader C" first="Christopher" last="Mader">Christopher Mader</name><affiliation><mods:affiliation>Medicine Faculty, Universidad Nacional Autónoma de México, Mexico City, Mexico</mods:affiliation></affiliation></author><author><name sortKey="Ochoa, Adriana" sort="Ochoa, Adriana" uniqKey="Ochoa A" first="Adriana" last="Ochoa">Adriana Ochoa</name><affiliation><mods:affiliation>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico</mods:affiliation></affiliation></author><author><name sortKey="Yescas, Petra" sort="Yescas, Petra" uniqKey="Yescas P" first="Petra" last="Yescas">Petra Yescas</name><affiliation><mods:affiliation>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico</mods:affiliation></affiliation></author><author><name sortKey="Gutierrez, Roxana" sort="Gutierrez, Roxana" uniqKey="Gutierrez R" first="Roxana" last="Gutiérrez">Roxana Gutiérrez</name><affiliation><mods:affiliation>Chemistry Faculty, Universidad Nacional Autónoma de México, Mexico City, Mexico</mods:affiliation></affiliation></author><author><name sortKey="White, Misti" sort="White, Misti" uniqKey="White M" first="Misti" last="White">Misti White</name><affiliation><mods:affiliation>Department of Neurology, The University of Texas Medical Branch, Galveston, Texas, USA</mods:affiliation></affiliation></author><author><name sortKey="Ruano, Luis" sort="Ruano, Luis" uniqKey="Ruano L" first="Luís" last="Ruano">Luís Ruano</name><affiliation><mods:affiliation>Division of Neurology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico</mods:affiliation></affiliation></author><author><name sortKey="Fragoso Enitez, Marcela" sort="Fragoso Enitez, Marcela" uniqKey="Fragoso Enitez M" first="Marcela" last="Fragoso-Benítez">Marcela Fragoso-Benítez</name><affiliation><mods:affiliation>Faculty of Medicine, Universidad La Salle, Mexico City, Mexico</mods:affiliation></affiliation></author><author><name sortKey="Ashizawa, Tetsuo" sort="Ashizawa, Tetsuo" uniqKey="Ashizawa T" first="Tetsuo" last="Ashizawa">Tetsuo Ashizawa</name><affiliation><mods:affiliation>Department of Neurology, The University of Texas Medical Branch, Galveston, Texas, USA</mods:affiliation></affiliation></author><author><name sortKey="Bidichandani, Sanjay I" sort="Bidichandani, Sanjay I" uniqKey="Bidichandani S" first="Sanjay I." last="Bidichandani">Sanjay I. Bidichandani</name><affiliation><mods:affiliation>Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA</mods:affiliation></affiliation></author><author><name sortKey="Rasmussen, Astrid" sort="Rasmussen, Astrid" uniqKey="Rasmussen A" first="Astrid" last="Rasmussen">Astrid Rasmussen</name><affiliation><mods:affiliation>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</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="2007-05-15">2007-05-15</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="1050">1050</biblScope><biblScope unit="page" to="1053">1053</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">3EA6784E260294B8A3D54CD77AF7146BDD718AC4</idno><idno type="DOI">10.1002/mds.21470</idno><idno type="ArticleID">MDS21470</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Mexican population</term><term>ataxia</term><term>autosomal dominant</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Dominant ataxias show wide geographic variation. We analyzed 108 dominant families and 123 sporadic ataxia patients from Mexico for mutations causing SCA1–3, 6–8, 10, 12, 17 and DRPLA. Only 18.5% of dominant families remained undiagnosed; SCA2 accounted for half (45.4%), followed by SCA10 (13.9%), SCA3 (12%), SCA7 (7.4%), and SCA17 (2.8%). None had SCA1, 6, 8, 12 or DRPLA. Among sporadic cases, 6 had SCA2 (4.9%), and 2 had SCA17 (1.6%). In the SCA2 patients we identified 6 individuals with the rare (CAG)33 allele, 2 of whom showed early onset ataxia. The distribution of dominant ataxia mutations in Mexicans is distinct from other populations. © 2007 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Elisa Alonso MD</name><affiliations><json:string>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico</json:string></affiliations></json:item><json:item><name>Leticia Martínez‐Ruano BS</name><affiliations><json:string>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico</json:string></affiliations></json:item><json:item><name>Irene De Biase MD, PhD</name><affiliations><json:string>Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA</json:string></affiliations></json:item><json:item><name>Christopher Mader MD</name><affiliations><json:string>Medicine Faculty, Universidad Nacional Autónoma de México, Mexico City, Mexico</json:string></affiliations></json:item><json:item><name>Adriana Ochoa MS</name><affiliations><json:string>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico</json:string></affiliations></json:item><json:item><name>Petra Yescas MS</name><affiliations><json:string>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico</json:string></affiliations></json:item><json:item><name>Roxana Gutiérrez BS</name><affiliations><json:string>Chemistry Faculty, Universidad Nacional Autónoma de México, Mexico City, Mexico</json:string></affiliations></json:item><json:item><name>Misti White BS</name><affiliations><json:string>Department of Neurology, The University of Texas Medical Branch, Galveston, Texas, USA</json:string></affiliations></json:item><json:item><name>Luís Ruano MD</name><affiliations><json:string>Division of Neurology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico</json:string></affiliations></json:item><json:item><name>Marcela Fragoso‐Benítez MD</name><affiliations><json:string>Faculty of Medicine, Universidad La Salle, Mexico City, Mexico</json:string></affiliations></json:item><json:item><name>Tetsuo Ashizawa MD</name><affiliations><json:string>Department of Neurology, The University of Texas Medical Branch, Galveston, Texas, USA</json:string></affiliations></json:item><json:item><name>Sanjay I. Bidichandani MBBS, PhD</name><affiliations><json:string>Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA</json:string><json:string>Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA</json:string></affiliations></json:item><json:item><name>Astrid Rasmussen MD, PhD</name><affiliations><json:string>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico</json:string><json:string>Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>ataxia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>autosomal dominant</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Mexican population</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Dominant ataxias show wide geographic variation. We analyzed 108 dominant families and 123 sporadic ataxia patients from Mexico for mutations causing SCA1–3, 6–8, 10, 12, 17 and DRPLA. Only 18.5% of dominant families remained undiagnosed; SCA2 accounted for half (45.4%), followed by SCA10 (13.9%), SCA3 (12%), SCA7 (7.4%), and SCA17 (2.8%). None had SCA1, 6, 8, 12 or DRPLA. Among sporadic cases, 6 had SCA2 (4.9%), and 2 had SCA17 (1.6%). In the SCA2 patients we identified 6 individuals with the rare (CAG)33 allele, 2 of whom showed early onset ataxia. The distribution of dominant ataxia mutations in Mexicans is distinct from other populations. © 2007 Movement Disorder Society</abstract><qualityIndicators><score>4.026</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>683</abstractCharCount><pdfWordCount>2718</pdfWordCount><pdfCharCount>17059</pdfCharCount><pdfPageCount>4</pdfPageCount><abstractWordCount>109</abstractWordCount></qualityIndicators><title>Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population</title><genre><json:string>Serial article</json:string></genre><host><volume>22</volume><pages><total>4</total><last>1053</last><first>1050</first></pages><issn><json:string>0885-3185</json:string></issn><issue>7</issue><subject><json:item><value>Brief Report</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>2007</publicationDate><copyrightDate>2007</copyrightDate><doi><json:string>10.1002/mds.21470</json:string></doi><id>3EA6784E260294B8A3D54CD77AF7146BDD718AC4</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/3EA6784E260294B8A3D54CD77AF7146BDD718AC4/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/3EA6784E260294B8A3D54CD77AF7146BDD718AC4/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/3EA6784E260294B8A3D54CD77AF7146BDD718AC4/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population</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>2007</date></publicationStmt><notesStmt><note>Consejo Nacional de Ciencia y Tecnología - No. M30790; No. SALUD‐2003‐C01–028;</note><note>National Institutes of Health - No. NS047596;</note><note>Muscular Dystrophy Association</note><note>Oklahoma Center for the Advancement of Sciences and Technology (OCAST)</note><note>Friedreich Ataxia Research Alliance (FARA)</note><note>National Institutes of Health - No. NS041547;</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population</title><author><persName><forename type="first">Elisa</forename><surname>Alonso</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico</affiliation></author><author><persName><forename type="first">Leticia</forename><surname>Martínez‐Ruano</surname><roleName type="degree">BS</roleName></persName><affiliation>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico</affiliation></author><author><persName><forename type="first">Irene</forename><surname>De Biase</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA</affiliation></author><author><persName><forename type="first">Christopher</forename><surname>Mader</surname><roleName type="degree">MD</roleName></persName><affiliation>Medicine Faculty, Universidad Nacional Autónoma de México, Mexico City, Mexico</affiliation></author><author><persName><forename type="first">Adriana</forename><surname>Ochoa</surname><roleName type="degree">MS</roleName></persName><affiliation>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico</affiliation></author><author><persName><forename type="first">Petra</forename><surname>Yescas</surname><roleName type="degree">MS</roleName></persName><affiliation>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico</affiliation></author><author><persName><forename type="first">Roxana</forename><surname>Gutiérrez</surname><roleName type="degree">BS</roleName></persName><affiliation>Chemistry Faculty, Universidad Nacional Autónoma de México, Mexico City, Mexico</affiliation></author><author><persName><forename type="first">Misti</forename><surname>White</surname><roleName type="degree">BS</roleName></persName><affiliation>Department of Neurology, The University of Texas Medical Branch, Galveston, Texas, USA</affiliation></author><author><persName><forename type="first">Luís</forename><surname>Ruano</surname><roleName type="degree">MD</roleName></persName><affiliation>Division of Neurology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico</affiliation></author><author><persName><forename type="first">Marcela</forename><surname>Fragoso‐Benítez</surname><roleName type="degree">MD</roleName></persName><affiliation>Faculty of Medicine, Universidad La Salle, Mexico City, Mexico</affiliation></author><author><persName><forename type="first">Tetsuo</forename><surname>Ashizawa</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, The University of Texas Medical Branch, Galveston, Texas, USA</affiliation></author><author><persName><forename type="first">Sanjay I.</forename><surname>Bidichandani</surname><roleName type="degree">MBBS, PhD</roleName></persName><affiliation>Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA</affiliation><affiliation>Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA</affiliation></author><author><persName><forename type="first">Astrid</forename><surname>Rasmussen</surname><roleName type="degree">MD, PhD</roleName></persName><note type="correspondence"><p>Correspondence: Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, 975 NE 10th St. BRC 458, Oklahoma City, Oklahoma 73104</p></note><affiliation>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico</affiliation><affiliation>Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA</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="2007-05-15"></date><biblScope unit="vol">22</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="1050">1050</biblScope><biblScope unit="page" to="1053">1053</biblScope></imprint></monogr><idno type="istex">3EA6784E260294B8A3D54CD77AF7146BDD718AC4</idno><idno type="DOI">10.1002/mds.21470</idno><idno type="ArticleID">MDS21470</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2007</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Dominant ataxias show wide geographic variation. We analyzed 108 dominant families and 123 sporadic ataxia patients from Mexico for mutations causing SCA1–3, 6–8, 10, 12, 17 and DRPLA. Only 18.5% of dominant families remained undiagnosed; SCA2 accounted for half (45.4%), followed by SCA10 (13.9%), SCA3 (12%), SCA7 (7.4%), and SCA17 (2.8%). None had SCA1, 6, 8, 12 or DRPLA. Among sporadic cases, 6 had SCA2 (4.9%), and 2 had SCA17 (1.6%). In the SCA2 patients we identified 6 individuals with the rare (CAG)33 allele, 2 of whom showed early onset ataxia. The distribution of dominant ataxia mutations in Mexicans is distinct from other populations. © 2007 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>ataxia</term></item><item><term>autosomal dominant</term></item><item><term>Mexican population</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Brief Report</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2007-01-08">Received</change><change when="2007-02-15">Registration</change><change when="2007-05-15">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/3EA6784E260294B8A3D54CD77AF7146BDD718AC4/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="70"><doi origin="wiley" registered="yes">10.1002/mds.v22:7</doi><numberingGroup><numbering type="journalVolume" number="22">22</numbering><numbering type="journalIssue">7</numbering></numberingGroup><coverDate startDate="2007-05-15">15 May 2007</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="280" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.21470</doi><idGroup><id type="unit" value="MDS21470"></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 © 2007 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2007-01-08"></event><event type="manuscriptRevised" date="2007-02-06"></event><event type="manuscriptAccepted" date="2007-02-15"></event><event type="publishedOnlineEarlyUnpaginated" date="2007-04-11"></event><event type="firstOnline" date="2007-04-11"></event><event type="publishedOnlineFinalForm" date="2007-05-25"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.16 mode:FullText" date="2010-08-19"></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">1050</numbering><numbering type="pageLast">1053</numbering></numberingGroup><correspondenceTo>Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, 975 NE 10th St. BRC 458, Oklahoma City, Oklahoma 73104</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS21470.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="25"></count><count type="wordTotal" number="2877"></count></countGroup><titleGroup><title type="main" xml:lang="en">Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population</title><title type="short" xml:lang="en">Distinct Distribution of ADCA in Mexican Population</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Elisa</givenNames><familyName>Alonso</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Leticia</givenNames><familyName>Martínez‐Ruano</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Irene</givenNames><familyName>De Biase</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Christopher</givenNames><familyName>Mader</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Adriana</givenNames><familyName>Ochoa</familyName><degrees>MS</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Petra</givenNames><familyName>Yescas</familyName><degrees>MS</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Roxana</givenNames><familyName>Gutiérrez</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Misti</givenNames><familyName>White</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Luís</givenNames><familyName>Ruano</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af7"><personName><givenNames>Marcela</givenNames><familyName>Fragoso‐Benítez</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Tetsuo</givenNames><familyName>Ashizawa</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au12" creatorRole="author" affiliationRef="#af2 #af8"><personName><givenNames>Sanjay I.</givenNames><familyName>Bidichandani</familyName><degrees>MBBS, PhD</degrees></personName></creator><creator xml:id="au13" creatorRole="author" affiliationRef="#af1 #af2" corresponding="yes"><personName><givenNames>Astrid</givenNames><familyName>Rasmussen</familyName><degrees>MD, PhD</degrees></personName><contactDetails><email normalForm="astrid-rasmussen@ouhsc.edu">astrid‐rasmussen@ouhsc.edu</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="MX" type="organization"><unparsedAffiliation>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="MX" type="organization"><unparsedAffiliation>Medicine Faculty, Universidad Nacional Autónoma de México, Mexico City, Mexico</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="MX" type="organization"><unparsedAffiliation>Chemistry Faculty, Universidad Nacional Autónoma de México, Mexico City, Mexico</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, The University of Texas Medical Branch, Galveston, Texas, USA</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="MX" type="organization"><unparsedAffiliation>Division of Neurology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="MX" type="organization"><unparsedAffiliation>Faculty of Medicine, Universidad La Salle, Mexico City, Mexico</unparsedAffiliation></affiliation><affiliation xml:id="af8" countryCode="US" type="organization"><unparsedAffiliation>Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">ataxia</keyword><keyword xml:id="kwd2">autosomal dominant</keyword><keyword xml:id="kwd3">Mexican population</keyword></keywordGroup><fundingInfo><fundingAgency>Consejo Nacional de Ciencia y Tecnología</fundingAgency><fundingNumber>M30790</fundingNumber><fundingNumber>SALUD‐2003‐C01–028</fundingNumber></fundingInfo><fundingInfo><fundingAgency>National Institutes of Health</fundingAgency><fundingNumber>NS047596</fundingNumber></fundingInfo><fundingInfo><fundingAgency>Muscular Dystrophy Association</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Oklahoma Center for the Advancement of Sciences and Technology (OCAST)</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Friedreich Ataxia Research Alliance (FARA)</fundingAgency></fundingInfo><fundingInfo><fundingAgency>National Institutes of Health</fundingAgency><fundingNumber>NS041547</fundingNumber></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Dominant ataxias show wide geographic variation. We analyzed 108 dominant families and 123 sporadic ataxia patients from Mexico for mutations causing SCA1–3, 6–8, 10, 12, 17 and DRPLA. Only 18.5% of dominant families remained undiagnosed; SCA2 accounted for half (45.4%), followed by SCA10 (13.9%), SCA3 (12%), SCA7 (7.4%), and SCA17 (2.8%). None had SCA1, 6, 8, 12 or DRPLA. Among sporadic cases, 6 had SCA2 (4.9%), and 2 had SCA17 (1.6%). In the SCA2 patients we identified 6 individuals with the rare (CAG)<sub>33</sub> allele, 2 of whom showed early onset ataxia. The distribution of dominant ataxia mutations in Mexicans is distinct from other populations. © 2007 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 4-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Distinct Distribution of ADCA in Mexican Population</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population</title></titleInfo><name type="personal"><namePart type="given">Elisa</namePart><namePart type="family">Alonso</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Leticia</namePart><namePart type="family">Martínez‐Ruano</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Irene</namePart><namePart type="family">De Biase</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christopher</namePart><namePart type="family">Mader</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Medicine Faculty, Universidad Nacional Autónoma de México, Mexico City, Mexico</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Adriana</namePart><namePart type="family">Ochoa</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Petra</namePart><namePart type="family">Yescas</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Roxana</namePart><namePart type="family">Gutiérrez</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Chemistry Faculty, Universidad Nacional Autónoma de México, Mexico City, Mexico</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Misti</namePart><namePart type="family">White</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Department of Neurology, The University of Texas Medical Branch, Galveston, Texas, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Luís</namePart><namePart type="family">Ruano</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Division of Neurology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marcela</namePart><namePart type="family">Fragoso‐Benítez</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Faculty of Medicine, Universidad La Salle, Mexico City, Mexico</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Tetsuo</namePart><namePart type="family">Ashizawa</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, The University of Texas Medical Branch, Galveston, Texas, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sanjay I.</namePart><namePart type="family">Bidichandani</namePart><namePart type="termsOfAddress">MBBS, PhD</namePart><affiliation>Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA</affiliation><affiliation>Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Astrid</namePart><namePart type="family">Rasmussen</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico</affiliation><affiliation>Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA</affiliation><description>Correspondence: Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, 975 NE 10th St. BRC 458, Oklahoma City, Oklahoma 73104</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">2007-05-15</dateIssued><dateCaptured encoding="w3cdtf">2007-01-08</dateCaptured><dateValid encoding="w3cdtf">2007-02-15</dateValid><copyrightDate encoding="w3cdtf">2007</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">1</extent><extent unit="tables">1</extent><extent unit="references">25</extent><extent unit="words">2877</extent></physicalDescription><abstract lang="en">Dominant ataxias show wide geographic variation. We analyzed 108 dominant families and 123 sporadic ataxia patients from Mexico for mutations causing SCA1–3, 6–8, 10, 12, 17 and DRPLA. Only 18.5% of dominant families remained undiagnosed; SCA2 accounted for half (45.4%), followed by SCA10 (13.9%), SCA3 (12%), SCA7 (7.4%), and SCA17 (2.8%). None had SCA1, 6, 8, 12 or DRPLA. Among sporadic cases, 6 had SCA2 (4.9%), and 2 had SCA17 (1.6%). In the SCA2 patients we identified 6 individuals with the rare (CAG)33 allele, 2 of whom showed early onset ataxia. The distribution of dominant ataxia mutations in Mexicans is distinct from other populations. © 2007 Movement Disorder Society</abstract><note type="funding">Consejo Nacional de Ciencia y Tecnología - No. M30790; No. SALUD‐2003‐C01–028; </note><note type="funding">National Institutes of Health - No. NS047596; </note><note type="funding">Muscular Dystrophy Association</note><note type="funding">Oklahoma Center for the Advancement of Sciences and Technology (OCAST)</note><note type="funding">Friedreich Ataxia Research Alliance (FARA)</note><note type="funding">National Institutes of Health - No. NS041547; </note><subject lang="en"><genre>Keywords</genre><topic>ataxia</topic><topic>autosomal dominant</topic><topic>Mexican population</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>2007</date><detail type="volume"><caption>vol.</caption><number>22</number></detail><detail type="issue"><caption>no.</caption><number>7</number></detail><extent unit="pages"><start>1050</start><end>1053</end><total>4</total></extent></part></relatedItem><identifier type="istex">3EA6784E260294B8A3D54CD77AF7146BDD718AC4</identifier><identifier type="DOI">10.1002/mds.21470</identifier><identifier type="ArticleID">MDS21470</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2007 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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