MovDisordV3, Main, Exploration, bibRecord, 002405

Clinical and genetic characteristics of Mexican Huntington's disease patients

Identifieur interne : 002405 ( Main/Exploration ); précédent : 002404; suivant : 002406

Clinical and genetic characteristics of Mexican Huntington's disease patients

Auteurs : María Elisa Alonso [Mexique] ; Adriana Ochoa [Mexique] ; Marie-Catherine Boll [Mexique] ; Ana Luisa Sosa [Mexique] ; Petra Yescas [Mexique] ; Marisol L Pez [Mexique] ; Rosario Macias [Mexique] ; Itziar Familiar [États-Unis] ; Astrid Rasmussen [États-Unis]

Source :

Movement Disorders [ 0885-3185 ] ; 2009-10-15.

RBID : ISTEX:8893DC906959752CBE94D3AC48CD17117CA3792B

Descripteurs français

Wicri :
- geographic : Mexique.

English descriptors

KwdEn :
- Adolescent, Adult, Age of Onset, Aged, CAG repeat, Child, Child, Preschool, Cross-Cultural Comparison, Family Health, Female, Humans, Huntington Disease (genetics), Huntington Disease (physiopathology), Huntington's disease, Latin‐ American population, Male, Mexican population, Mexico (epidemiology), Mexico (ethnology), Retrospective Studies, Statistics as Topic, Trinucleotide Repeat Expansion (genetics), Young Adult.
MESH :
- geographic , epidemiology : Mexico.
- geographic , ethnology : Mexico.
- genetics : Huntington Disease, Trinucleotide Repeat Expansion.
- physiopathology : Huntington Disease.
- Adolescent, Adult, Age of Onset, Aged, Child, Child, Preschool, Cross-Cultural Comparison, Family Health, Female, Humans, Male, Retrospective Studies, Statistics as Topic, Young Adult.

Abstract

We report the characteristics of 691 Mexican patients with Huntington's disease (HD). These patients, representing 401 families, constitute the largest series of Mexican HD cases as yet described in the literature. We found the clinical characteristics of these patients to be similar to those of other populations, but we observed a higher frequency of infantile cases, a shorter disease duration and a lower suicide rate. In 626 cases, for which molecular analyses were available, CAG‐trinucleotide expansion size ranged from 37–106 repeats. The large number of CAG repeats (19.04 ± 3.02) in normal alleles and the presence of new mutations suggest that the overall prevalence of HD in the Mexican population could be expected to be within range of, or higher than, that reported for Europeans. © 2009 Movement Disorder Society

Url:

https://api.istex.fr/document/8893DC906959752CBE94D3AC48CD17117CA3792B/fulltext/pdf

DOI: 10.1002/mds.22737

Affiliations:

Mexique, États-Unis
Maryland, Oklahoma

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinical and genetic characteristics of Mexican Huntington's disease patients</title>
<author><name sortKey="Alonso, Maria Elisa" sort="Alonso, Maria Elisa" uniqKey="Alonso M" first="María Elisa" last="Alonso">María Elisa Alonso</name>
</author>
<author><name sortKey="Ochoa, Adriana" sort="Ochoa, Adriana" uniqKey="Ochoa A" first="Adriana" last="Ochoa">Adriana Ochoa</name>
</author>
<author><name sortKey="Boll, Marie Atherine" sort="Boll, Marie Atherine" uniqKey="Boll M" first="Marie-Catherine" last="Boll">Marie-Catherine Boll</name>
</author>
<author><name sortKey="Sosa, Ana Luisa" sort="Sosa, Ana Luisa" uniqKey="Sosa A" first="Ana Luisa" last="Sosa">Ana Luisa Sosa</name>
</author>
<author><name sortKey="Yescas, Petra" sort="Yescas, Petra" uniqKey="Yescas P" first="Petra" last="Yescas">Petra Yescas</name>
</author>
<author><name sortKey="L Pez, Marisol" sort="L Pez, Marisol" uniqKey="L Pez M" first="Marisol" last="L Pez">Marisol L Pez</name>
</author>
<author><name sortKey="Macias, Rosario" sort="Macias, Rosario" uniqKey="Macias R" first="Rosario" last="Macias">Rosario Macias</name>
</author>
<author><name sortKey="Familiar, Itziar" sort="Familiar, Itziar" uniqKey="Familiar I" first="Itziar" last="Familiar">Itziar Familiar</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:8893DC906959752CBE94D3AC48CD17117CA3792B</idno>
<date when="2009" year="2009">2009</date>
<idno type="doi">10.1002/mds.22737</idno>
<idno type="url">https://api.istex.fr/document/8893DC906959752CBE94D3AC48CD17117CA3792B/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">001090</idno>
<idno type="wicri:Area/Istex/Curation">001090</idno>
<idno type="wicri:Area/Istex/Checkpoint">001007</idno>
<idno type="wicri:doubleKey">0885-3185:2009:Alonso M:clinical:and:genetic</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:19672992</idno>
<idno type="wicri:Area/PubMed/Corpus">001B97</idno>
<idno type="wicri:Area/PubMed/Curation">001B97</idno>
<idno type="wicri:Area/PubMed/Checkpoint">001F08</idno>
<idno type="wicri:Area/Ncbi/Merge">002780</idno>
<idno type="wicri:Area/Ncbi/Curation">002780</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">002780</idno>
<idno type="wicri:Area/Main/Merge">002C66</idno>
<idno type="wicri:Area/Main/Curation">002405</idno>
<idno type="wicri:Area/Main/Exploration">002405</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Clinical and genetic characteristics of Mexican Huntington's disease patients</title>
<author><name sortKey="Alonso, Maria Elisa" sort="Alonso, Maria Elisa" uniqKey="Alonso M" first="María Elisa" last="Alonso">María 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="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="Boll, Marie Atherine" sort="Boll, Marie Atherine" uniqKey="Boll M" first="Marie-Catherine" last="Boll">Marie-Catherine Boll</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="Sosa, Ana Luisa" sort="Sosa, Ana Luisa" uniqKey="Sosa A" first="Ana Luisa" last="Sosa">Ana Luisa Sosa</name>
<affiliation wicri:level="1"><country xml:lang="fr">Mexique</country>
<wicri:regionArea>Clinic of Behaviour and Cognition, 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="L Pez, Marisol" sort="L Pez, Marisol" uniqKey="L Pez M" first="Marisol" last="L Pez">Marisol L Pez</name>
<affiliation wicri:level="1"><country xml:lang="fr">Mexique</country>
<wicri:regionArea>Department of Biological Systems, Universidad Autónoma Metropolitana‐Xochimilco, Mexico City</wicri:regionArea>
<wicri:noRegion>Mexico City</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Macias, Rosario" sort="Macias, Rosario" uniqKey="Macias R" first="Rosario" last="Macias">Rosario Macias</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="Familiar, Itziar" sort="Familiar, Itziar" uniqKey="Familiar I" first="Itziar" last="Familiar">Itziar Familiar</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Mental Health, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</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="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="2009-10-15">2009-10-15</date>
<biblScope unit="vol">24</biblScope>
<biblScope unit="issue">13</biblScope>
<biblScope unit="page" from="2012">2012</biblScope>
<biblScope unit="page" to="2015">2015</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">8893DC906959752CBE94D3AC48CD17117CA3792B</idno>
<idno type="DOI">10.1002/mds.22737</idno>
<idno type="ArticleID">MDS22737</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age of Onset</term>
<term>Aged</term>
<term>CAG repeat</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Cross-Cultural Comparison</term>
<term>Family Health</term>
<term>Female</term>
<term>Humans</term>
<term>Huntington Disease (genetics)</term>
<term>Huntington Disease (physiopathology)</term>
<term>Huntington's disease</term>
<term>Latin‐ American population</term>
<term>Male</term>
<term>Mexican population</term>
<term>Mexico (epidemiology)</term>
<term>Mexico (ethnology)</term>
<term>Retrospective Studies</term>
<term>Statistics as Topic</term>
<term>Trinucleotide Repeat Expansion (genetics)</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Mexico</term>
</keywords>
<keywords scheme="MESH" type="geographic" qualifier="ethnology" xml:lang="en"><term>Mexico</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Huntington Disease</term>
<term>Trinucleotide Repeat Expansion</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Huntington Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age of Onset</term>
<term>Aged</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Cross-Cultural Comparison</term>
<term>Family Health</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Retrospective Studies</term>
<term>Statistics as Topic</term>
<term>Young Adult</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">We report the characteristics of 691 Mexican patients with Huntington's disease (HD). These patients, representing 401 families, constitute the largest series of Mexican HD cases as yet described in the literature. We found the clinical characteristics of these patients to be similar to those of other populations, but we observed a higher frequency of infantile cases, a shorter disease duration and a lower suicide rate. In 626 cases, for which molecular analyses were available, CAG‐trinucleotide expansion size ranged from 37–106 repeats. The large number of CAG repeats (19.04 ± 3.02) in normal alleles and the presence of new mutations suggest that the overall prevalence of HD in the Mexican population could be expected to be within range of, or higher than, that reported for Europeans. © 2009 Movement Disorder Society</div>
</front>
</TEI>
<affiliations><list><country><li>Mexique</li>
<li>États-Unis</li>
</country>
<region><li>Maryland</li>
<li>Oklahoma</li>
</region>
</list>
<tree><country name="Mexique"><noRegion><name sortKey="Alonso, Maria Elisa" sort="Alonso, Maria Elisa" uniqKey="Alonso M" first="María Elisa" last="Alonso">María Elisa Alonso</name>
</noRegion>
<name sortKey="Boll, Marie Atherine" sort="Boll, Marie Atherine" uniqKey="Boll M" first="Marie-Catherine" last="Boll">Marie-Catherine Boll</name>
<name sortKey="L Pez, Marisol" sort="L Pez, Marisol" uniqKey="L Pez M" first="Marisol" last="L Pez">Marisol L Pez</name>
<name sortKey="Macias, Rosario" sort="Macias, Rosario" uniqKey="Macias R" first="Rosario" last="Macias">Rosario Macias</name>
<name sortKey="Ochoa, Adriana" sort="Ochoa, Adriana" uniqKey="Ochoa A" first="Adriana" last="Ochoa">Adriana Ochoa</name>
<name sortKey="Sosa, Ana Luisa" sort="Sosa, Ana Luisa" uniqKey="Sosa A" first="Ana Luisa" last="Sosa">Ana Luisa Sosa</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="Maryland"><name sortKey="Familiar, Itziar" sort="Familiar, Itziar" uniqKey="Familiar I" first="Itziar" last="Familiar">Itziar Familiar</name>
</region>
<name sortKey="Rasmussen, Astrid" sort="Rasmussen, Astrid" uniqKey="Rasmussen A" first="Astrid" last="Rasmussen">Astrid Rasmussen</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002405 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 002405 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     ISTEX:8893DC906959752CBE94D3AC48CD17117CA3792B
   |texte=   Clinical and genetic characteristics of Mexican Huntington's disease patients
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

Movement Disorders (revue)

Clinical and genetic characteristics of Mexican Huntington's disease patients

Clinical and genetic characteristics of Mexican Huntington's disease patients

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)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.