MovDisordV3, PubMed, Checkpoint, bibRecord, 002257

Huntington's disease as caused by 34 CAG repeats.

Identifieur interne : 002257 ( PubMed/Checkpoint ); précédent : 002256; suivant : 002258

Huntington's disease as caused by 34 CAG repeats.

Auteurs : Jürgen Andrich [Allemagne] ; Larissa Arning ; Stefan Wieczorek ; Peter H. Kraus ; Ralf Gold ; Carsten Saft

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.

RBID : pubmed:18307262

English descriptors

KwdEn :
- Aged, Atrophy, Brain (pathology), Brain (radiography), Cerebral Cortex (pathology), Cerebral Cortex (radiography), Humans, Huntington Disease (genetics), Huntington Disease (psychology), Huntington Disease (radiography), Male, Psychometrics, Tomography, X-Ray Computed, Trinucleotide Repeat Expansion, Trinucleotide Repeats.
MESH :
- genetics : Huntington Disease.
- pathology : Brain, Cerebral Cortex.
- psychology : Huntington Disease.
- radiography : Brain, Cerebral Cortex, Huntington Disease.
- Aged, Atrophy, Humans, Male, Psychometrics, Tomography, X-Ray Computed, Trinucleotide Repeat Expansion, Trinucleotide Repeats.

Abstract

Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by an abnormal expansion of a polymorphic stretch of CAG repeats in the coding 5' part of the HD gene on chromosome 4p. Expansions of CAG blocks beyond 35 repeats are associated with the clinical presentation of HD. There is an intermediate range of rare alleles between 27 and 35 CAG repeats with a higher risk for further expansion in subsequent generations. Here, we report a 75-year-old male with clinical features of HD and 34 CAG repeat units.

DOI: 10.1002/mds.21958
PubMed: 18307262

Affiliations:

Allemagne

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Le document en format XML

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<author><name sortKey="Andrich, Jurgen" sort="Andrich, Jurgen" uniqKey="Andrich J" first="Jürgen" last="Andrich">Jürgen Andrich</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, St. Josef Hospital Bochum, Ruhr-University Bochum, Gudrunstr. 56, Bochum, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, St. Josef Hospital Bochum, Ruhr-University Bochum, Gudrunstr. 56, Bochum</wicri:regionArea>
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<wicri:noRegion>Bochum</wicri:noRegion>
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<author><name sortKey="Arning, Larissa" sort="Arning, Larissa" uniqKey="Arning L" first="Larissa" last="Arning">Larissa Arning</name>
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<author><name sortKey="Wieczorek, Stefan" sort="Wieczorek, Stefan" uniqKey="Wieczorek S" first="Stefan" last="Wieczorek">Stefan Wieczorek</name>
</author>
<author><name sortKey="Kraus, Peter H" sort="Kraus, Peter H" uniqKey="Kraus P" first="Peter H" last="Kraus">Peter H. Kraus</name>
</author>
<author><name sortKey="Gold, Ralf" sort="Gold, Ralf" uniqKey="Gold R" first="Ralf" last="Gold">Ralf Gold</name>
</author>
<author><name sortKey="Saft, Carsten" sort="Saft, Carsten" uniqKey="Saft C" first="Carsten" last="Saft">Carsten Saft</name>
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<author><name sortKey="Wieczorek, Stefan" sort="Wieczorek, Stefan" uniqKey="Wieczorek S" first="Stefan" last="Wieczorek">Stefan Wieczorek</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Cerebral Cortex (pathology)</term>
<term>Cerebral Cortex (radiography)</term>
<term>Humans</term>
<term>Huntington Disease (genetics)</term>
<term>Huntington Disease (psychology)</term>
<term>Huntington Disease (radiography)</term>
<term>Male</term>
<term>Psychometrics</term>
<term>Tomography, X-Ray Computed</term>
<term>Trinucleotide Repeat Expansion</term>
<term>Trinucleotide Repeats</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Huntington Disease</term>
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<term>Cerebral Cortex</term>
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<term>Atrophy</term>
<term>Humans</term>
<term>Male</term>
<term>Psychometrics</term>
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<term>Trinucleotide Repeat Expansion</term>
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<front><div type="abstract" xml:lang="en">Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by an abnormal expansion of a polymorphic stretch of CAG repeats in the coding 5' part of the HD gene on chromosome 4p. Expansions of CAG blocks beyond 35 repeats are associated with the clinical presentation of HD. There is an intermediate range of rare alleles between 27 and 35 CAG repeats with a higher risk for further expansion in subsequent generations. Here, we report a 75-year-old male with clinical features of HD and 34 CAG repeat units.</div>
</front>
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<DateCompleted><Year>2008</Year>
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<Issue>6</Issue>
<PubDate><Year>2008</Year>
<Month>Apr</Month>
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</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
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<ArticleTitle>Huntington's disease as caused by 34 CAG repeats.</ArticleTitle>
<Pagination><MedlinePgn>879-81</MedlinePgn>
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<Abstract><AbstractText>Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by an abnormal expansion of a polymorphic stretch of CAG repeats in the coding 5' part of the HD gene on chromosome 4p. Expansions of CAG blocks beyond 35 repeats are associated with the clinical presentation of HD. There is an intermediate range of rare alleles between 27 and 35 CAG repeats with a higher risk for further expansion in subsequent generations. Here, we report a 75-year-old male with clinical features of HD and 34 CAG repeat units.</AbstractText>
<CopyrightInformation>(c) 2008 Movement Disorder Society.</CopyrightInformation>
</Abstract>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D014057">Tomography, X-Ray Computed</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D019680">Trinucleotide Repeat Expansion</DescriptorName>
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<name sortKey="Kraus, Peter H" sort="Kraus, Peter H" uniqKey="Kraus P" first="Peter H" last="Kraus">Peter H. Kraus</name>
<name sortKey="Saft, Carsten" sort="Saft, Carsten" uniqKey="Saft C" first="Carsten" last="Saft">Carsten Saft</name>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Huntington's disease as caused by 34 CAG repeats.

Huntington's disease as caused by 34 CAG repeats.

Source :

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)

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Pour générer des pages wiki