MovDisordV3, Main, Exploration, bibRecord, 002E89

Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population

Identifieur interne : 002E89 ( Main/Exploration ); 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

Affiliations:

Mexique, États-Unis
Oklahoma, Texas

Le document en format XML

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<author><name sortKey="Alonso, Elisa" sort="Alonso, Elisa" uniqKey="Alonso E" first="Elisa" last="Alonso">Elisa Alonso</name>
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<author><name sortKey="Martinez Uano, Leticia" sort="Martinez Uano, Leticia" uniqKey="Martinez Uano L" first="Leticia" last="Martínez-Ruano">Leticia Martínez-Ruano</name>
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<author><name sortKey="Ochoa, Adriana" sort="Ochoa, Adriana" uniqKey="Ochoa A" first="Adriana" last="Ochoa">Adriana Ochoa</name>
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<author><name sortKey="Yescas, Petra" sort="Yescas, Petra" uniqKey="Yescas P" first="Petra" last="Yescas">Petra Yescas</name>
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<author><name sortKey="Gutierrez, Roxana" sort="Gutierrez, Roxana" uniqKey="Gutierrez R" first="Roxana" last="Gutiérrez">Roxana Gutiérrez</name>
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<author><name sortKey="Ruano, Luis" sort="Ruano, Luis" uniqKey="Ruano L" first="Luís" last="Ruano">Luís Ruano</name>
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<author><name sortKey="Fragoso Enitez, Marcela" sort="Fragoso Enitez, Marcela" uniqKey="Fragoso Enitez 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>
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<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="Fragoso Enitez, Marcela" sort="Fragoso Enitez, Marcela" uniqKey="Fragoso Enitez 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>
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<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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</placeName>
</affiliation>
</author>
<author><name sortKey="Rasmussen, Astrid" sort="Rasmussen, Astrid" uniqKey="Rasmussen A" first="Astrid" last="Rasmussen">Astrid Rasmussen</name>
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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" 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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<keywords scheme="Pascal" xml:lang="fr"><term>Ataxie spinocérébelleuse</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>
</TEI>
<affiliations><list><country><li>Mexique</li>
<li>États-Unis</li>
</country>
<region><li>Oklahoma</li>
<li>Texas</li>
</region>
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<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 Enitez, Marcela" sort="Fragoso Enitez, Marcela" uniqKey="Fragoso Enitez M" first="Marcela" last="Fragoso-Benítez">Marcela Fragoso-Benítez</name>
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<name sortKey="Mader, Christopher" sort="Mader, Christopher" uniqKey="Mader C" first="Christopher" last="Mader">Christopher Mader</name>
<name sortKey="Martinez Uano, Leticia" sort="Martinez Uano, Leticia" uniqKey="Martinez Uano 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="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="Rasmussen, Astrid" sort="Rasmussen, Astrid" uniqKey="Rasmussen A" first="Astrid" last="Rasmussen">Astrid Rasmussen</name>
<name sortKey="White, Misti" sort="White, Misti" uniqKey="White M" first="Misti" last="White">Misti White</name>
</country>
</tree>
</affiliations>
</record>

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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...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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