Benign hereditary chorea revisited: a journey to understanding.
Identifieur interne : 001D96 ( Ncbi/Checkpoint ); précédent : 001D95; suivant : 001D97Benign hereditary chorea revisited: a journey to understanding.
Auteurs : Galit Kleiner-Fisman [Canada] ; Anthony E. LangSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- 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.
DOI: 10.1002/mds.21644
PubMed: 17702033
Affiliations:
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pubmed:17702033Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">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"><nlm:affiliation>Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada. kleinerfisman@yahoo.com</nlm:affiliation><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. Lang</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21644</idno><idno type="RBID">pubmed:17702033</idno><idno type="pmid">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></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">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"><nlm:affiliation>Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada. kleinerfisman@yahoo.com</nlm:affiliation><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. Lang</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></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>Transcription Factors (genetics)</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></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><noCountry><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E" last="Lang">Anthony E. Lang</name></noCountry><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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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