Benign Hereditary Chorea Revisited : A Journey to Understanding
Identifieur interne : 003105 ( Main/Exploration ); précédent : 003104; suivant : 003106Benign Hereditary Chorea Revisited : A Journey to Understanding
Auteurs : Galit Kleiner-Fisman [Canada] ; Anthony E. Lang [Canada]Source :
- Movement disorders [ 0885-3185 ] ; 2007.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
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.
Affiliations:
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Le document en format XML
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Lang</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, University of Toronto</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">08-0147786</idno><date when="2007">2007</date><idno type="stanalyst">PASCAL 08-0147786 INIST</idno><idno type="RBID">Pascal:08-0147786</idno><idno type="wicri:Area/PascalFrancis/Corpus">001356</idno><idno type="wicri:Area/PascalFrancis/Curation">001963</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001771</idno><idno type="wicri:doubleKey">0885-3185:2007:Kleiner Fisman G:benign:hereditary:chorea</idno><idno type="wicri:Area/Main/Merge">004361</idno><idno type="wicri:Area/Main/Curation">003105</idno><idno type="wicri:Area/Main/Exploration">003105</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Benign Hereditary Chorea Revisited : A Journey to Understanding</title><author><name sortKey="Kleiner Fisman, Galit" sort="Kleiner Fisman, Galit" uniqKey="Kleiner Fisman G" first="Galit" last="Kleiner-Fisman">Galit Kleiner-Fisman</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, University of Toronto</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></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 wicri:level="4"><inist:fA14 i1="01"><s1>Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, University of Toronto</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007">2007</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chorea</term><term>Encephalon</term><term>Lung</term><term>Nervous system diseases</term><term>Thyroid gland</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Syndrome choréique</term><term>Pathologie du système nerveux</term><term>Encéphale</term><term>Thyroïde</term><term>Poumon</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><affiliations><list><country><li>Canada</li></country><region><li>Ontario</li></region><settlement><li>Toronto</li></settlement><orgName><li>Université de Toronto</li></orgName></list><tree><country name="Canada"><region name="Ontario"><name sortKey="Kleiner Fisman, Galit" sort="Kleiner Fisman, Galit" uniqKey="Kleiner Fisman G" first="Galit" last="Kleiner-Fisman">Galit Kleiner-Fisman</name></region><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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