Benign hereditary chorea revisited: A journey to understanding
Identifieur interne : 002F91 ( Main/Exploration ); précédent : 002F90; suivant : 002F92Benign hereditary chorea revisited: A journey to understanding
Auteurs : Galit Kleiner-Fisman [Canada] ; Anthony E. Lang [Canada]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-12-15.
English descriptors
- KwdEn :
- Age of Onset, Animals, Brain (pathology), Chorea (epidemiology), Chorea (genetics), Chorea (pathology), Chorea (psychology), Chorea (therapy), Cognition (physiology), Diagnosis, Differential, Humans, Mice, Mice, Knockout, Nuclear Proteins (genetics), TITF‐1, Transcription Factors (genetics), benign hereditary chorea (BHC), brain‐thyroid‐lung syndrome, review.
- MESH :
- chemical , genetics : Nuclear Proteins, Transcription Factors.
- epidemiology : Chorea.
- genetics : Chorea.
- pathology : Brain, Chorea.
- physiology : Cognition.
- psychology : Chorea.
- therapy : Chorea.
- Age of Onset, Animals, Diagnosis, Differential, Humans, Mice, Mice, Knockout.
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
Url:
DOI: 10.1002/mds.21644
Affiliations:
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Lang</name></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><idno type="wicri:Area/Istex/Curation">001268</idno><idno type="wicri:Area/Istex/Checkpoint">001A99</idno><idno type="wicri:doubleKey">0885-3185:2007:Kleiner Isman G:benign:hereditary:chorea</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:17702033</idno><idno type="wicri:Area/PubMed/Corpus">002563</idno><idno type="wicri:Area/PubMed/Curation">002563</idno><idno type="wicri:Area/PubMed/Checkpoint">002948</idno><idno type="wicri:Area/Ncbi/Merge">001D96</idno><idno type="wicri:Area/Ncbi/Curation">001D96</idno><idno type="wicri:Area/Ncbi/Checkpoint">001D96</idno><idno type="wicri:doubleKey">0885-3185:2007:Kleiner Fisman G:benign:hereditary:chorea</idno><idno type="wicri:Area/Main/Merge">003F13</idno><idno type="wicri:Area/Main/Curation">002F91</idno><idno type="wicri:Area/Main/Exploration">002F91</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 wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. 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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="2007-12-15">2007-12-15</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">16</biblScope><biblScope unit="page" from="2297">2297</biblScope><biblScope unit="page" to="2305">2305</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">9F965497EBCD38D76421280E679250DB69AE36B8</idno><idno type="DOI">10.1002/mds.21644</idno><idno type="ArticleID">MDS21644</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age of Onset</term><term>Animals</term><term>Brain (pathology)</term><term>Chorea (epidemiology)</term><term>Chorea (genetics)</term><term>Chorea (pathology)</term><term>Chorea (psychology)</term><term>Chorea (therapy)</term><term>Cognition (physiology)</term><term>Diagnosis, Differential</term><term>Humans</term><term>Mice</term><term>Mice, Knockout</term><term>Nuclear Proteins (genetics)</term><term>TITF‐1</term><term>Transcription Factors (genetics)</term><term>benign hereditary chorea (BHC)</term><term>brain‐thyroid‐lung syndrome</term><term>review</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nuclear Proteins</term><term>Transcription Factors</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Chorea</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Chorea</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Cognition</term></keywords><keywords scheme="MESH" qualifier="psychology" xml:lang="en"><term>Chorea</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Chorea</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Age of Onset</term><term>Animals</term><term>Diagnosis, Differential</term><term>Humans</term><term>Mice</term><term>Mice, Knockout</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></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. © 2007 Movement Disorder Society</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 Isman, Galit" sort="Kleiner Isman, Galit" uniqKey="Kleiner Isman 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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