MovDisordV3, Main, Curation, bibRecord, 002E89

Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population

Identifieur interne : 002E89 ( Main/Curation ); précédent : 002E88; suivant : 002E90

Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population

Auteurs : Elisa Alonso [Mexique] ; Leticia Martínez-Ruano [Mexique] ; Irene De Biase [États-Unis] ; Christopher Mader [Mexique] ; Adriana Ochoa [Mexique] ; Petra Yescas [Mexique] ; Roxana Gutiérrez [Mexique] ; Misti White [États-Unis] ; Luís Ruano [Mexique] ; Marcela Fragoso-Benítez [Mexique] ; Tetsuo Ashizawa [États-Unis] ; Sanjay I. Bidichandani [États-Unis] ; Astrid Rasmussen [Mexique, États-Unis]

Source :

Movement Disorders [ 0885-3185 ] ; 2007-05-15.

RBID : ISTEX:3EA6784E260294B8A3D54CD77AF7146BDD718AC4

Descripteurs français

Pascal (Inist)
- Ataxie spinocérébelleuse, Système nerveux pathologie.
Wicri :
- geographic : Mexique.

English descriptors

KwdEn :
- Calcium Channels (genetics), Female, Genes, Dominant, Humans, Male, Mexican population, Mexico (epidemiology), Mutation, Nerve Tissue Proteins (genetics), Nervous system diseases, Nuclear Proteins (genetics), Pedigree, Spinocerebellar Ataxias (epidemiology), Spinocerebellar Ataxias (genetics), Spinocerebellar ataxia, Trinucleotide Repeat Expansion (genetics), ataxia, autosomal dominant.
MESH :
- chemical , genetics : Calcium Channels, Nerve Tissue Proteins, Nuclear Proteins.
- geographic , epidemiology : Mexico.
- epidemiology : Spinocerebellar Ataxias.
- genetics : Spinocerebellar Ataxias, Trinucleotide Repeat Expansion.
- Female, Genes, Dominant, Humans, Male, Mutation, Pedigree.

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

Url:

https://api.istex.fr/document/3EA6784E260294B8A3D54CD77AF7146BDD718AC4/fulltext/pdf

DOI: 10.1002/mds.21470

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Le document en format XML

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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Calcium Channels (genetics)</term>
<term>Female</term>
<term>Genes, Dominant</term>
<term>Humans</term>
<term>Male</term>
<term>Mexican population</term>
<term>Mexico (epidemiology)</term>
<term>Mutation</term>
<term>Nerve Tissue Proteins (genetics)</term>
<term>Nervous system diseases</term>
<term>Nuclear Proteins (genetics)</term>
<term>Pedigree</term>
<term>Spinocerebellar Ataxias (epidemiology)</term>
<term>Spinocerebellar Ataxias (genetics)</term>
<term>Spinocerebellar ataxia</term>
<term>Trinucleotide Repeat Expansion (genetics)</term>
<term>ataxia</term>
<term>autosomal dominant</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Calcium Channels</term>
<term>Nerve Tissue Proteins</term>
<term>Nuclear Proteins</term>
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<keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Mexico</term>
</keywords>
<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Spinocerebellar Ataxias</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Spinocerebellar Ataxias</term>
<term>Trinucleotide Repeat Expansion</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Female</term>
<term>Genes, Dominant</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Pedigree</term>
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<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>
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<author><name sortKey="Gutierrez, Roxana" sort="Gutierrez, Roxana" uniqKey="Gutierrez R" first="Roxana" last="Gutierrez">Roxana Gutierrez</name>
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</author>
<author><name sortKey="Ruano, Luis" sort="Ruano, Luis" uniqKey="Ruano L" first="Luis" last="Ruano">Luis Ruano</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Division of Neurology, Instituto Nacional de Neurología y Neurocirugia Manuel Velasco Suárez</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Mexique</country>
<wicri:noRegion>Mexico City</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fragoso Benitez, Marcela" sort="Fragoso Benitez, Marcela" uniqKey="Fragoso Benitez M" first="Marcela" last="Fragoso-Benitez">Marcela Fragoso-Benitez</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Faculty of Medicine, Universidad La Salle</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Mexique</country>
<wicri:noRegion>Mexico City</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ashizawa, Tetsuo" sort="Ashizawa, Tetsuo" uniqKey="Ashizawa T" first="Tetsuo" last="Ashizawa">Tetsuo Ashizawa</name>
<affiliation wicri:level="2"><inist:fA14 i1="05"><s1>Department of Neurology, The University of Texas Medical Branch</s1>
<s2>Galveston, Texas</s2>
<s3>USA</s3>
<sZ>8 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
</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 wicri:level="2"><inist:fA14 i1="02"><s1>Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center</s1>
<s2>Oklahoma City, Oklahoma</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Oklahoma</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><inist:fA14 i1="08"><s1>Department of Pediatrics, University of Oklahoma Health Sciences Center</s1>
<s2>Oklahoma City, Oklahoma</s2>
<s3>USA</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Oklahoma</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rasmussen, Astrid" sort="Rasmussen, Astrid" uniqKey="Rasmussen A" first="Astrid" last="Rasmussen">Astrid Rasmussen</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugia Manuel Velasco Suârez</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Mexique</country>
<wicri:noRegion>Mexico City</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">07-0314970</idno>
<date when="2007">2007</date>
<idno type="stanalyst">PASCAL 07-0314970 INIST</idno>
<idno type="RBID">Pascal:07-0314970</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001653</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001668</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">001708</idno>
<idno type="wicri:doubleKey">0885-3185:2007:Alonso E:distinct:distribution:of</idno>
<idno type="wicri:Area/Main/Merge">004298</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Distinct distribution of autosomal Dominant spinocerebellar ataxia in the mexican population</title>
<author><name sortKey="Alonso, Elisa" sort="Alonso, Elisa" uniqKey="Alonso E" first="Elisa" last="Alonso">Elisa Alonso</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugia Manuel Velasco Suârez</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Mexique</country>
<wicri:noRegion>Mexico City</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Martinez Ruano, Leticia" sort="Martinez Ruano, Leticia" uniqKey="Martinez Ruano L" first="Leticia" last="Martinez-Ruano">Leticia Martinez-Ruano</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugia Manuel Velasco Suârez</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Mexique</country>
<wicri:noRegion>Mexico City</wicri:noRegion>
</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 wicri:level="2"><inist:fA14 i1="02"><s1>Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center</s1>
<s2>Oklahoma City, Oklahoma</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Oklahoma</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mader, Christopher" sort="Mader, Christopher" uniqKey="Mader C" first="Christopher" last="Mader">Christopher Mader</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Medicine Faculty, Universidad Nacional Autónoma de México</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Mexique</country>
<wicri:noRegion>Mexico City</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ochoa, Adriana" sort="Ochoa, Adriana" uniqKey="Ochoa A" first="Adriana" last="Ochoa">Adriana Ochoa</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugia Manuel Velasco Suârez</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Mexique</country>
<wicri:noRegion>Mexico City</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Yescas, Petra" sort="Yescas, Petra" uniqKey="Yescas P" first="Petra" last="Yescas">Petra Yescas</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugia Manuel Velasco Suârez</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Mexique</country>
<wicri:noRegion>Mexico City</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gutierrez, Roxana" sort="Gutierrez, Roxana" uniqKey="Gutierrez R" first="Roxana" last="Gutierrez">Roxana Gutierrez</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Chemistry Faculty, Universidad Nacional Autónoma de México</s1>
<s2>México City</s2>
<s3>MEX</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Mexique</country>
<wicri:noRegion>México City</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="White, Misti" sort="White, Misti" uniqKey="White M" first="Misti" last="White">Misti White</name>
<affiliation wicri:level="2"><inist:fA14 i1="05"><s1>Department of Neurology, The University of Texas Medical Branch</s1>
<s2>Galveston, Texas</s2>
<s3>USA</s3>
<sZ>8 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ruano, Luis" sort="Ruano, Luis" uniqKey="Ruano L" first="Luis" last="Ruano">Luis Ruano</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Division of Neurology, Instituto Nacional de Neurología y Neurocirugia Manuel Velasco Suárez</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Mexique</country>
<wicri:noRegion>Mexico City</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fragoso Benitez, Marcela" sort="Fragoso Benitez, Marcela" uniqKey="Fragoso Benitez M" first="Marcela" last="Fragoso-Benitez">Marcela Fragoso-Benitez</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Faculty of Medicine, Universidad La Salle</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Mexique</country>
<wicri:noRegion>Mexico City</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ashizawa, Tetsuo" sort="Ashizawa, Tetsuo" uniqKey="Ashizawa T" first="Tetsuo" last="Ashizawa">Tetsuo Ashizawa</name>
<affiliation wicri:level="2"><inist:fA14 i1="05"><s1>Department of Neurology, The University of Texas Medical Branch</s1>
<s2>Galveston, Texas</s2>
<s3>USA</s3>
<sZ>8 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
</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 wicri:level="2"><inist:fA14 i1="02"><s1>Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center</s1>
<s2>Oklahoma City, Oklahoma</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Oklahoma</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><inist:fA14 i1="08"><s1>Department of Pediatrics, University of Oklahoma Health Sciences Center</s1>
<s2>Oklahoma City, Oklahoma</s2>
<s3>USA</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Oklahoma</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rasmussen, Astrid" sort="Rasmussen, Astrid" uniqKey="Rasmussen A" first="Astrid" last="Rasmussen">Astrid Rasmussen</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugia Manuel Velasco Suârez</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Mexique</country>
<wicri:noRegion>Mexico City</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2007">2007</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Nervous system diseases</term>
<term>Spinocerebellar ataxia</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Ataxie spinocérébelleuse</term>
</keywords>
</textClass>
</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)<sub>33</sub>
 allele, 2 of whom showed early onset ataxia. The distribution of dominant ataxia mutations in Mexicans is distinct from other populations.</div>
</front>
</TEI>
</INIST>
<ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population</title>
<author><name sortKey="Alonso, Elisa" sort="Alonso, Elisa" uniqKey="Alonso E" first="Elisa" last="Alonso">Elisa Alonso</name>
</author>
<author><name sortKey="Martinez Uano, Leticia" sort="Martinez Uano, Leticia" uniqKey="Martinez Uano L" first="Leticia" last="Martínez-Ruano">Leticia Martínez-Ruano</name>
</author>
<author><name sortKey="De Biase, Irene" sort="De Biase, Irene" uniqKey="De Biase I" first="Irene" last="De Biase">Irene De Biase</name>
</author>
<author><name sortKey="Mader, Christopher" sort="Mader, Christopher" uniqKey="Mader C" first="Christopher" last="Mader">Christopher Mader</name>
</author>
<author><name sortKey="Ochoa, Adriana" sort="Ochoa, Adriana" uniqKey="Ochoa A" first="Adriana" last="Ochoa">Adriana Ochoa</name>
</author>
<author><name sortKey="Yescas, Petra" sort="Yescas, Petra" uniqKey="Yescas P" first="Petra" last="Yescas">Petra Yescas</name>
</author>
<author><name sortKey="Gutierrez, Roxana" sort="Gutierrez, Roxana" uniqKey="Gutierrez R" first="Roxana" last="Gutiérrez">Roxana Gutiérrez</name>
</author>
<author><name sortKey="White, Misti" sort="White, Misti" uniqKey="White M" first="Misti" last="White">Misti White</name>
</author>
<author><name sortKey="Ruano, Luis" sort="Ruano, Luis" uniqKey="Ruano L" first="Luís" last="Ruano">Luís Ruano</name>
</author>
<author><name sortKey="Fragoso Enitez, Marcela" sort="Fragoso Enitez, Marcela" uniqKey="Fragoso Enitez M" first="Marcela" last="Fragoso-Benítez">Marcela Fragoso-Benítez</name>
</author>
<author><name sortKey="Ashizawa, Tetsuo" sort="Ashizawa, Tetsuo" uniqKey="Ashizawa T" first="Tetsuo" last="Ashizawa">Tetsuo Ashizawa</name>
</author>
<author><name sortKey="Bidichandani, Sanjay I" sort="Bidichandani, Sanjay I" uniqKey="Bidichandani S" first="Sanjay I." last="Bidichandani">Sanjay I. Bidichandani</name>
</author>
<author><name sortKey="Rasmussen, Astrid" sort="Rasmussen, Astrid" uniqKey="Rasmussen A" first="Astrid" last="Rasmussen">Astrid Rasmussen</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:3EA6784E260294B8A3D54CD77AF7146BDD718AC4</idno>
<date when="2007" year="2007">2007</date>
<idno type="doi">10.1002/mds.21470</idno>
<idno type="url">https://api.istex.fr/document/3EA6784E260294B8A3D54CD77AF7146BDD718AC4/fulltext/pdf</idno>
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<idno type="wicri:Area/Istex/Checkpoint">001997</idno>
<idno type="wicri:doubleKey">0885-3185:2007:Alonso E:distinct:distribution:of</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:17427938</idno>
<idno type="wicri:Area/PubMed/Corpus">002775</idno>
<idno type="wicri:Area/PubMed/Curation">002775</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002861</idno>
<idno type="wicri:Area/Ncbi/Merge">001B64</idno>
<idno type="wicri:Area/Ncbi/Curation">001B64</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">001B64</idno>
<idno type="wicri:doubleKey">0885-3185:2007:Alonso E:distinct:distribution:of</idno>
<idno type="wicri:Area/Main/Merge">003E11</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population</title>
<author><name sortKey="Alonso, Elisa" sort="Alonso, Elisa" uniqKey="Alonso E" first="Elisa" last="Alonso">Elisa Alonso</name>
<affiliation wicri:level="1"><country xml:lang="fr">Mexique</country>
<wicri:regionArea>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City</wicri:regionArea>
<wicri:noRegion>Mexico City</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Martinez Uano, Leticia" sort="Martinez Uano, Leticia" uniqKey="Martinez Uano L" first="Leticia" last="Martínez-Ruano">Leticia Martínez-Ruano</name>
<affiliation wicri:level="1"><country xml:lang="fr">Mexique</country>
<wicri:regionArea>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City</wicri:regionArea>
<wicri:noRegion>Mexico City</wicri:noRegion>
</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 wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma</wicri:regionArea>
<placeName><region type="state">Oklahoma</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mader, Christopher" sort="Mader, Christopher" uniqKey="Mader C" first="Christopher" last="Mader">Christopher Mader</name>
<affiliation wicri:level="1"><country xml:lang="fr">Mexique</country>
<wicri:regionArea>Medicine Faculty, Universidad Nacional Autónoma de México, Mexico City</wicri:regionArea>
<wicri:noRegion>Mexico City</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ochoa, Adriana" sort="Ochoa, Adriana" uniqKey="Ochoa A" first="Adriana" last="Ochoa">Adriana Ochoa</name>
<affiliation wicri:level="1"><country xml:lang="fr">Mexique</country>
<wicri:regionArea>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City</wicri:regionArea>
<wicri:noRegion>Mexico City</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Yescas, Petra" sort="Yescas, Petra" uniqKey="Yescas P" first="Petra" last="Yescas">Petra Yescas</name>
<affiliation wicri:level="1"><country xml:lang="fr">Mexique</country>
<wicri:regionArea>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City</wicri:regionArea>
<wicri:noRegion>Mexico City</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gutierrez, Roxana" sort="Gutierrez, Roxana" uniqKey="Gutierrez R" first="Roxana" last="Gutiérrez">Roxana Gutiérrez</name>
<affiliation wicri:level="1"><country xml:lang="fr">Mexique</country>
<wicri:regionArea>Chemistry Faculty, Universidad Nacional Autónoma de México, Mexico City</wicri:regionArea>
<wicri:noRegion>Mexico City</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="White, Misti" sort="White, Misti" uniqKey="White M" first="Misti" last="White">Misti White</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, The University of Texas Medical Branch, Galveston, Texas</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ruano, Luis" sort="Ruano, Luis" uniqKey="Ruano L" first="Luís" last="Ruano">Luís Ruano</name>
<affiliation wicri:level="1"><country xml:lang="fr">Mexique</country>
<wicri:regionArea>Division of Neurology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City</wicri:regionArea>
<wicri:noRegion>Mexico City</wicri:noRegion>
</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 wicri:level="1"><country xml:lang="fr">Mexique</country>
<wicri:regionArea>Faculty of Medicine, Universidad La Salle, Mexico City</wicri:regionArea>
<wicri:noRegion>Mexico City</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ashizawa, Tetsuo" sort="Ashizawa, Tetsuo" uniqKey="Ashizawa T" first="Tetsuo" last="Ashizawa">Tetsuo Ashizawa</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, The University of Texas Medical Branch, Galveston, Texas</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</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 wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma</wicri:regionArea>
<placeName><region type="state">Oklahoma</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma</wicri:regionArea>
<placeName><region type="state">Oklahoma</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rasmussen, Astrid" sort="Rasmussen, Astrid" uniqKey="Rasmussen A" first="Astrid" last="Rasmussen">Astrid Rasmussen</name>
<affiliation wicri:level="1"><country xml:lang="fr">Mexique</country>
<wicri:regionArea>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City</wicri:regionArea>
<wicri:noRegion>Mexico City</wicri:noRegion>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma</wicri:regionArea>
<placeName><region type="state">Oklahoma</region>
</placeName>
</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>Calcium Channels (genetics)</term>
<term>Female</term>
<term>Genes, Dominant</term>
<term>Humans</term>
<term>Male</term>
<term>Mexican population</term>
<term>Mexico (epidemiology)</term>
<term>Mutation</term>
<term>Nerve Tissue Proteins (genetics)</term>
<term>Nuclear Proteins (genetics)</term>
<term>Pedigree</term>
<term>Spinocerebellar Ataxias (epidemiology)</term>
<term>Spinocerebellar Ataxias (genetics)</term>
<term>Trinucleotide Repeat Expansion (genetics)</term>
<term>ataxia</term>
<term>autosomal dominant</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Calcium Channels</term>
<term>Nerve Tissue Proteins</term>
<term>Nuclear Proteins</term>
</keywords>
<keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Mexico</term>
</keywords>
<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Spinocerebellar Ataxias</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Spinocerebellar Ataxias</term>
<term>Trinucleotide Repeat Expansion</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Female</term>
<term>Genes, Dominant</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Pedigree</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Mexique</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>
</double>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population

Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population

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