MovDisordV3, Ncbi, Merge, bibRecord, 001B64

Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population.

Identifieur interne : 001B64 ( Ncbi/Merge ); précédent : 001B63; suivant : 001B65

Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population.

Auteurs : Elisa Alonso [Mexique] ; 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 Rasmussen

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.

RBID : pubmed:17427938

Descripteurs français

Wicri :
- geographic : Mexique.

English descriptors

KwdEn :
- Calcium Channels (genetics), Female, Genes, Dominant, Humans, Male, Mexico (epidemiology), Mutation, Nerve Tissue Proteins (genetics), Nuclear Proteins (genetics), Pedigree, Spinocerebellar Ataxias (epidemiology), Spinocerebellar Ataxias (genetics), Trinucleotide Repeat Expansion (genetics).
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.

DOI: 10.1002/mds.21470
PubMed: 17427938

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Links to Exploration step

pubmed:17427938

Le document en format XML

<record><TEI><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>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico.</nlm:affiliation>
<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 Ruano, Leticia" sort="Martinez Ruano, Leticia" uniqKey="Martinez Ruano 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 Benitez, Marcela" sort="Fragoso Benitez, Marcela" uniqKey="Fragoso Benitez M" first="Marcela" last="Fragoso-Benítez">Marcela Fragoso-Benítez</name>
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<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>
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<author><name sortKey="Rasmussen, Astrid" sort="Rasmussen, Astrid" uniqKey="Rasmussen A" first="Astrid" last="Rasmussen">Astrid Rasmussen</name>
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<sourceDesc><biblStruct><analytic><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>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Mexico City, Mexico.</nlm:affiliation>
<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>
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</author>
<author><name sortKey="Martinez Ruano, Leticia" sort="Martinez Ruano, Leticia" uniqKey="Martinez Ruano L" first="Leticia" last="Martínez-Ruano">Leticia Martínez-Ruano</name>
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<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 Benitez, Marcela" sort="Fragoso Benitez, Marcela" uniqKey="Fragoso Benitez 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>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2007" type="published">2007</date>
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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>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>
</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>
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</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>
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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.</div>
</front>
</TEI>
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<Day>31</Day>
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<DateCompleted><Year>2007</Year>
<Month>08</Month>
<Day>03</Day>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
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<ArticleTitle>Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population.</ArticleTitle>
<Pagination><MedlinePgn>1050-3</MedlinePgn>
</Pagination>
<Abstract><AbstractText>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.</AbstractText>
<CopyrightInformation>(c) 2007 Movement Disorder Society.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Alonso</LastName>
<ForeName>Elisa</ForeName>
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</AffiliationInfo>
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<Author ValidYN="Y"><LastName>Martínez-Ruano</LastName>
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<Author ValidYN="Y"><LastName>De Biase</LastName>
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<Author ValidYN="Y"><LastName>Mader</LastName>
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<Author ValidYN="Y"><LastName>Ochoa</LastName>
<ForeName>Adriana</ForeName>
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<Author ValidYN="Y"><LastName>Yescas</LastName>
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</Author>
<Author ValidYN="Y"><LastName>Gutiérrez</LastName>
<ForeName>Roxana</ForeName>
<Initials>R</Initials>
</Author>
<Author ValidYN="Y"><LastName>White</LastName>
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</Author>
<Author ValidYN="Y"><LastName>Ruano</LastName>
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<Author ValidYN="Y"><LastName>Fragoso-Benítez</LastName>
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<MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D008800">Mexico</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020754">Spinocerebellar Ataxias</DescriptorName>
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<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
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<tree><noCountry><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="De Biase, Irene" sort="De Biase, Irene" uniqKey="De Biase I" first="Irene" last="De Biase">Irene De Biase</name>
<name sortKey="Fragoso Benitez, Marcela" sort="Fragoso Benitez, Marcela" uniqKey="Fragoso Benitez M" first="Marcela" last="Fragoso-Benítez">Marcela Fragoso-Benítez</name>
<name sortKey="Gutierrez, Roxana" sort="Gutierrez, Roxana" uniqKey="Gutierrez R" first="Roxana" last="Gutiérrez">Roxana Gutiérrez</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="Martínez-Ruano">Leticia Martínez-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="Luís" last="Ruano">Luís Ruano</name>
<name sortKey="White, Misti" sort="White, Misti" uniqKey="White M" first="Misti" last="White">Misti White</name>
<name sortKey="Yescas, Petra" sort="Yescas, Petra" uniqKey="Yescas P" first="Petra" last="Yescas">Petra Yescas</name>
</noCountry>
<country name="Mexique"><noRegion><name sortKey="Alonso, Elisa" sort="Alonso, Elisa" uniqKey="Alonso E" first="Elisa" last="Alonso">Elisa Alonso</name>
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</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.

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki