Distinct distribution of autosomal Dominant spinocerebellar ataxia in the mexican population
Identifieur interne : 004298 ( Main/Merge ); précédent : 004297; suivant : 004299Distinct distribution of autosomal Dominant spinocerebellar ataxia in the mexican population
Auteurs : Elisa Alonso [Mexique] ; Leticia Martinez-Ruano [Mexique] ; Irene De Biase [États-Unis] ; Christopher Mader [Mexique] ; Adriana Ochoa [Mexique] ; Petra Yescas [Mexique] ; Roxana Gutierrez [Mexique] ; Misti White [États-Unis] ; Luis Ruano [Mexique] ; Marcela Fragoso-Benitez [Mexique] ; Tetsuo Ashizawa [États-Unis] ; Sanjay I. Bidichandani [États-Unis] ; Astrid Rasmussen [Mexique]Source :
- Movement disorders [ 0885-3185 ] ; 2007.
Descripteurs français
- Pascal (Inist)
English descriptors
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.
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<record><TEI><teiHeader><fileDesc><titleStmt><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></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><affiliations><list><country><li>Mexique</li><li>États-Unis</li></country><region><li>Oklahoma</li><li>Texas</li></region></list><tree><country name="Mexique"><noRegion><name sortKey="Alonso, Elisa" sort="Alonso, Elisa" uniqKey="Alonso E" first="Elisa" last="Alonso">Elisa Alonso</name></noRegion><name sortKey="Fragoso Benitez, Marcela" sort="Fragoso Benitez, Marcela" uniqKey="Fragoso Benitez M" first="Marcela" last="Fragoso-Benitez">Marcela Fragoso-Benitez</name><name sortKey="Gutierrez, Roxana" sort="Gutierrez, Roxana" uniqKey="Gutierrez R" first="Roxana" last="Gutierrez">Roxana Gutierrez</name><name sortKey="Mader, Christopher" sort="Mader, Christopher" uniqKey="Mader C" first="Christopher" last="Mader">Christopher Mader</name><name sortKey="Martinez Ruano, Leticia" sort="Martinez Ruano, Leticia" uniqKey="Martinez Ruano L" first="Leticia" last="Martinez-Ruano">Leticia Martinez-Ruano</name><name sortKey="Ochoa, Adriana" sort="Ochoa, Adriana" uniqKey="Ochoa A" first="Adriana" last="Ochoa">Adriana Ochoa</name><name sortKey="Rasmussen, Astrid" sort="Rasmussen, Astrid" uniqKey="Rasmussen A" first="Astrid" last="Rasmussen">Astrid Rasmussen</name><name sortKey="Ruano, Luis" sort="Ruano, Luis" uniqKey="Ruano L" first="Luis" last="Ruano">Luis Ruano</name><name sortKey="Yescas, Petra" sort="Yescas, Petra" uniqKey="Yescas P" first="Petra" last="Yescas">Petra Yescas</name></country><country name="États-Unis"><region name="Oklahoma"><name sortKey="De Biase, Irene" sort="De Biase, Irene" uniqKey="De Biase I" first="Irene" last="De Biase">Irene De Biase</name></region><name sortKey="Ashizawa, Tetsuo" sort="Ashizawa, Tetsuo" uniqKey="Ashizawa T" first="Tetsuo" last="Ashizawa">Tetsuo Ashizawa</name><name sortKey="Bidichandani, Sanjay I" sort="Bidichandani, Sanjay I" uniqKey="Bidichandani S" first="Sanjay I." last="Bidichandani">Sanjay I. Bidichandani</name><name sortKey="Bidichandani, Sanjay I" sort="Bidichandani, Sanjay I" uniqKey="Bidichandani S" first="Sanjay I." last="Bidichandani">Sanjay I. Bidichandani</name><name sortKey="White, Misti" sort="White, Misti" uniqKey="White M" first="Misti" last="White">Misti White</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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