Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat.
Identifieur interne : 002F92 ( PubMed/Curation ); précédent : 002F91; suivant : 002F93Case 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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Gonzalez</name></author><author><name sortKey="Bowen, Brian C" sort="Bowen, Brian C" uniqKey="Bowen B" first="Brian C" last="Bowen">Brian C. 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Maternally transmitted very large trinucleotide repeats (>100) are extremely rare in juvenile HD and may represent instability during female gametogenesis.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">16007623</PMID><DateCreated><Year>2005</Year><Month>10</Month><Day>11</Day></DateCreated><DateCompleted><Year>2006</Year><Month>02</Month><Day>16</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>20</Volume><Issue>10</Issue><PubDate><Year>2005</Year><Month>Oct</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat.</ArticleTitle><Pagination><MedlinePgn>1380-3</MedlinePgn></Pagination><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><ForeName>Spiridon</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Neurology, University of Miami, School of Medicine, Miami, Florida 33136, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lopez-Alberola</LastName><ForeName>Roberto</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Baumbach</LastName><ForeName>Lisa</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Russell</LastName><ForeName>Angela</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Gonzalez</LastName><ForeName>Manuel A</ForeName><Initials>MA</Initials></Author><Author ValidYN="Y"><LastName>Bowen</LastName><ForeName>Brian C</ForeName><Initials>BC</Initials></Author><Author ValidYN="Y"><LastName>Singer</LastName><ForeName>Carlos</ForeName><Initials>C</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000483">Alleles</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001284">Atrophy</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001479">Basal Ganglia</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002421">Caudate Nucleus</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002648">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003072">Cognition Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000209">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004401">Dysarthria</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000209">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006816">Huntington Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008279">Magnetic Resonance Imaging</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D009035">Mothers</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D019957">Motor Skills Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000209">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011187">Posture</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000502">physiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012021">Reflex, Abnormal</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012026">Reflex, Stretch</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D019680">Trinucleotide Repeat Expansion</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2005</Year><Month>7</Month><Day>12</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2006</Year><Month>2</Month><Day>17</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2005</Year><Month>7</Month><Day>12</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.20557</ArticleId><ArticleId IdType="pubmed">16007623</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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