Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat.
Identifieur interne : 001320 ( Ncbi/Merge ); précédent : 001319; suivant : 001321Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat.
Auteurs : Spiridon Papapetropoulos [États-Unis] ; Roberto Lopez-Alberola ; Lisa Baumbach ; Angela Russell ; Manuel A. Gonzalez ; Brian C. Bowen ; Carlos SingerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2005.
English descriptors
- KwdEn :
- Alleles, Atrophy (pathology), Basal Ganglia (pathology), Caudate Nucleus (pathology), Child, Cognition Disorders (etiology), Dysarthria (etiology), Female, Humans, Huntington Disease (genetics), Magnetic Resonance Imaging, Male, Mothers, Motor Skills Disorders (etiology), Posture (physiology), Reflex, Abnormal, Reflex, Stretch, Trinucleotide Repeat Expansion (genetics).
- 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.
DOI: 10.1002/mds.20557
PubMed: 16007623
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pubmed:16007623Le document en format XML
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<author><name sortKey="Papapetropoulos, Spiridon" sort="Papapetropoulos, Spiridon" uniqKey="Papapetropoulos S" first="Spiridon" last="Papapetropoulos">Spiridon Papapetropoulos</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, University of Miami, School of Medicine, Miami, Florida 33136, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Miami, School of Medicine, Miami, Florida 33136</wicri:regionArea>
<wicri:noRegion>Florida 33136</wicri:noRegion>
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<author><name sortKey="Lopez Alberola, Roberto" sort="Lopez Alberola, Roberto" uniqKey="Lopez Alberola R" first="Roberto" last="Lopez-Alberola">Roberto Lopez-Alberola</name>
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<author><name sortKey="Baumbach, Lisa" sort="Baumbach, Lisa" uniqKey="Baumbach L" first="Lisa" last="Baumbach">Lisa Baumbach</name>
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<author><name sortKey="Russell, Angela" sort="Russell, Angela" uniqKey="Russell A" first="Angela" last="Russell">Angela Russell</name>
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<author><name sortKey="Gonzalez, Manuel A" sort="Gonzalez, Manuel A" uniqKey="Gonzalez M" first="Manuel A" last="Gonzalez">Manuel A. Gonzalez</name>
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<author><name sortKey="Bowen, Brian C" sort="Bowen, Brian C" uniqKey="Bowen B" first="Brian C" last="Bowen">Brian C. Bowen</name>
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<author><name sortKey="Singer, Carlos" sort="Singer, Carlos" uniqKey="Singer C" first="Carlos" last="Singer">Carlos Singer</name>
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<author><name sortKey="Russell, Angela" sort="Russell, Angela" uniqKey="Russell A" first="Angela" last="Russell">Angela Russell</name>
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<term>Basal Ganglia (pathology)</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>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Mothers</term>
<term>Motor Skills Disorders (etiology)</term>
<term>Posture (physiology)</term>
<term>Reflex, Abnormal</term>
<term>Reflex, Stretch</term>
<term>Trinucleotide Repeat Expansion (genetics)</term>
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<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Cognition Disorders</term>
<term>Dysarthria</term>
<term>Motor Skills Disorders</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Huntington Disease</term>
<term>Trinucleotide Repeat Expansion</term>
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<term>Child</term>
<term>Female</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
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<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.</div>
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<Month>10</Month>
<Day>11</Day>
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<JournalIssue CitedMedium="Print"><Volume>20</Volume>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
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<ArticleTitle>Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat.</ArticleTitle>
<Pagination><MedlinePgn>1380-3</MedlinePgn>
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<Abstract><AbstractText>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.</AbstractText>
<CopyrightInformation>Copyright (c) 2005 Movement Disorder Society.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Papapetropoulos</LastName>
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