Benign hereditary chorea revisited: A journey to understanding
Identifieur interne : 001268 ( Istex/Corpus ); précédent : 001267; suivant : 001269Benign hereditary chorea revisited: A journey to understanding
Auteurs : Galit Kleiner-Fisman ; Anthony E. LangSource :
- Movement Disorders [ 0885-3185 ] ; 2007-12-15.
English descriptors
Abstract
Benign hereditary chorea (BHC) has been characterized as an autosomal dominant disorder manifesting nonprogressive chorea without dementia. However, there has been controversy regarding its existence. Diagnosis has been based solely on clinical criteria with many patients and families demonstrating “atypical” features and until recently, no diagnostic test was available for confirmation. Since 2002, mutations in the thyroid transcription factor (TITF‐1) gene have been identified as resulting in some cases of BHC. Additionally, the clinical spectrum has expanded to include abnormalities in thyroid and lung with the putative mechanism of disease resulting from gene haploinsufficiency and reduced protein product. This review summarizes both a historical perspective and our current understanding of BHC. © 2007 Movement Disorder Society
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DOI: 10.1002/mds.21644
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ISTEX:9F965497EBCD38D76421280E679250DB69AE36B8Le document en format XML
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Lang</name><affiliation><mods:affiliation>Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:9F965497EBCD38D76421280E679250DB69AE36B8</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/mds.21644</idno><idno type="url">https://api.istex.fr/document/9F965497EBCD38D76421280E679250DB69AE36B8/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001268</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Benign hereditary chorea revisited: A journey to understanding</title><author><name sortKey="Kleiner Isman, Galit" sort="Kleiner Isman, Galit" uniqKey="Kleiner Isman G" first="Galit" last="Kleiner-Fisman">Galit Kleiner-Fisman</name><affiliation><mods:affiliation>Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada</mods:affiliation></affiliation></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name><affiliation><mods:affiliation>Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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Lang MD</name><affiliations><json:string>Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>benign hereditary chorea (BHC)</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>TITF‐1</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>review</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>brain‐thyroid‐lung syndrome</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Benign hereditary chorea (BHC) has been characterized as an autosomal dominant disorder manifesting nonprogressive chorea without dementia. However, there has been controversy regarding its existence. 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The CME form can be found on page 2452 and is available online at <url href="http://www.movementdisorders.org/education/activities.html"> http://www.movementdisorders.org/education/activities.html </url></p></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Benign hereditary chorea (BHC) has been characterized as an autosomal dominant disorder manifesting nonprogressive chorea without dementia. However, there has been controversy regarding its existence. Diagnosis has been based solely on clinical criteria with many patients and families demonstrating “atypical” features and until recently, no diagnostic test was available for confirmation. Since 2002, mutations in the thyroid transcription factor (<i>TITF‐1</i>) gene have been identified as resulting in some cases of BHC. Additionally, the clinical spectrum has expanded to include abnormalities in thyroid and lung with the putative mechanism of disease resulting from gene haploinsufficiency and reduced protein product. 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However, there has been controversy regarding its existence. Diagnosis has been based solely on clinical criteria with many patients and families demonstrating “atypical” features and until recently, no diagnostic test was available for confirmation. Since 2002, mutations in the thyroid transcription factor (TITF‐1) gene have been identified as resulting in some cases of BHC. Additionally, the clinical spectrum has expanded to include abnormalities in thyroid and lung with the putative mechanism of disease resulting from gene haploinsufficiency and reduced protein product. This review summarizes both a historical perspective and our current understanding of BHC. © 2007 Movement Disorder Society</abstract><subject lang="en"><genre>Keywords</genre><topic>benign hereditary chorea (BHC)</topic><topic>TITF‐1</topic><topic>review</topic><topic>brain‐thyroid‐lung syndrome</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><note type="content"> This article is part of the journal's CME program. 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