Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat
Identifieur interne : 003993 ( Main/Exploration ); précédent : 003992; suivant : 003994Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat
Auteurs : Spiridon Papapetropoulos [États-Unis] ; Roberto Lopez-Alberola [États-Unis] ; Lisa Baumbach [États-Unis] ; Angela Russell [États-Unis] ; Manuel A. Gonzalez [États-Unis] ; Brian C. Bowen [États-Unis] ; Carlos Singer [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2005-10.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Alleles, Atrophy (pathology), Basal Ganglia (pathology), CAG repeat expansion, Caudate Nucleus (pathology), Child, Cognition Disorders (etiology), Dysarthria (etiology), Female, Humans, Huntington Disease (genetics), Huntington disease, Huntington's disease, Magnetic Resonance Imaging, Male, Mothers, Motor Skills Disorders (etiology), Nervous system diseases, Posture (physiology), Reflex, Abnormal, Reflex, Stretch, Trinucleotide, Trinucleotide Repeat Expansion (genetics), maternal transmission.
- MESH :
- etiology : Cognition Disorders, Dysarthria, Motor Skills Disorders.
- genetics : Huntington Disease, Trinucleotide Repeat Expansion.
- pathology : Atrophy, Basal Ganglia, Caudate Nucleus.
- physiology : Posture.
- Alleles, Child, Female, Humans, Magnetic Resonance Imaging, Male, Mothers, Reflex, Abnormal, Reflex, Stretch.
Abstract
We describe and present a video of a patient with maternally inherited juvenile Huntington's disease (HD) caused by a very large (108‐repeat) expansion. Maternally transmitted very large trinucleotide repeats (>100) are extremely rare in juvenile HD and may represent instability during female gametogenesis. © 2005 Movement Disorder Society
Url:
DOI: 10.1002/mds.20557
Affiliations:
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Le document en format XML
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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="2005-10">2005-10</date><biblScope unit="vol">20</biblScope><biblScope unit="issue">10</biblScope><biblScope unit="page" from="1380">1380</biblScope><biblScope unit="page" to="1383">1383</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">0A4FAB2280260DF6FBE4552ACB78427DC074A3D1</idno><idno type="DOI">10.1002/mds.20557</idno><idno type="ArticleID">MDS20557</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alleles</term><term>Atrophy (pathology)</term><term>Basal Ganglia (pathology)</term><term>CAG repeat expansion</term><term>Caudate Nucleus (pathology)</term><term>Child</term><term>Cognition Disorders (etiology)</term><term>Dysarthria (etiology)</term><term>Female</term><term>Humans</term><term>Huntington Disease (genetics)</term><term>Huntington disease</term><term>Huntington's disease</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Mothers</term><term>Motor Skills Disorders (etiology)</term><term>Nervous system diseases</term><term>Posture (physiology)</term><term>Reflex, Abnormal</term><term>Reflex, Stretch</term><term>Trinucleotide</term><term>Trinucleotide Repeat Expansion (genetics)</term><term>maternal transmission</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Cognition Disorders</term><term>Dysarthria</term><term>Motor Skills Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Huntington Disease</term><term>Trinucleotide Repeat Expansion</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Atrophy</term><term>Basal Ganglia</term><term>Caudate Nucleus</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Posture</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Alleles</term><term>Child</term><term>Female</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Mothers</term><term>Reflex, Abnormal</term><term>Reflex, Stretch</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Chorée Huntington</term><term>Système nerveux pathologie</term><term>Trinucléotide</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We describe and present a video of a patient with maternally inherited juvenile Huntington's disease (HD) caused by a very large (108‐repeat) expansion. Maternally transmitted very large trinucleotide repeats (>100) are extremely rare in juvenile HD and may represent instability during female gametogenesis. © 2005 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Floride</li></region></list><tree><country name="États-Unis"><region name="Floride"><name sortKey="Papapetropoulos, Spiridon" sort="Papapetropoulos, Spiridon" uniqKey="Papapetropoulos S" first="Spiridon" last="Papapetropoulos">Spiridon Papapetropoulos</name></region><name sortKey="Baumbach, Lisa" sort="Baumbach, Lisa" uniqKey="Baumbach L" first="Lisa" last="Baumbach">Lisa Baumbach</name><name sortKey="Bowen, Brian C" sort="Bowen, Brian C" uniqKey="Bowen B" first="Brian C." last="Bowen">Brian C. Bowen</name><name sortKey="Gonzalez, Manuel A" sort="Gonzalez, Manuel A" uniqKey="Gonzalez M" first="Manuel A." last="Gonzalez">Manuel A. Gonzalez</name><name sortKey="Lopez Lberola, Roberto" sort="Lopez Lberola, Roberto" uniqKey="Lopez Lberola R" first="Roberto" last="Lopez-Alberola">Roberto Lopez-Alberola</name><name sortKey="Russell, Angela" sort="Russell, Angela" uniqKey="Russell A" first="Angela" last="Russell">Angela Russell</name><name sortKey="Singer, Carlos" sort="Singer, Carlos" uniqKey="Singer C" first="Carlos" last="Singer">Carlos Singer</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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