MovDisordV3, Main, Merge, bibRecord, 003834

Huntington's Disease as Caused by 34 CAG Repeats

Identifieur interne : 003834 ( Main/Merge ); précédent : 003833; suivant : 003835

Huntington's Disease as Caused by 34 CAG Repeats

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

Source :

Movement disorders [ 0885-3185 ] ; 2008.

RBID : Pascal:08-0251879

Descripteurs français

Pascal (Inist)
- Chorée de Huntington, Pathologie du système nerveux.

English descriptors

KwdEn :
- Huntington disease, Nervous system diseases.

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.

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Pascal:08-0251879

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Huntington's Disease as Caused by 34 CAG Repeats</title>
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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="Saft, Carsten" sort="Saft, Carsten" uniqKey="Saft C" first="Carsten" last="Saft">Carsten Saft</name>
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<series><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Huntington disease</term>
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<term>Pathologie du   système nerveux</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>
</TEI>
<affiliations><list><country><li>Allemagne</li>
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<tree><country name="Allemagne"><noRegion><name sortKey="Andrich, Jurgen" sort="Andrich, Jurgen" uniqKey="Andrich J" first="Jürgen" last="Andrich">Jürgen Andrich</name>
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<name sortKey="Arning, Larissa" sort="Arning, Larissa" uniqKey="Arning L" first="Larissa" last="Arning">Larissa Arning</name>
<name sortKey="Gold, Ralf" sort="Gold, Ralf" uniqKey="Gold R" first="Ralf" last="Gold">Ralf Gold</name>
<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>
<name sortKey="Wieczorek, Stefan" sort="Wieczorek, Stefan" uniqKey="Wieczorek S" first="Stefan" last="Wieczorek">Stefan Wieczorek</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 :

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