Consanguineous Iranian kindreds with severe Tourette syndrome
Identifieur interne : 002929 ( Main/Exploration ); précédent : 002928; suivant : 002930Consanguineous Iranian kindreds with severe Tourette syndrome
Auteurs : Maria G. Motlagh [États-Unis, Iran] ; Arshia Seddigh [Iran, Royaume-Uni] ; Behnoosh Dashti [Iran] ; James F. Leckman [États-Unis] ; Javad Alaghband-Rad [Iran, Canada]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-10-30.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Cartographie.
English descriptors
- KwdEn :
- Adolescent, Adult, Behavior, Cartography, Child, Chromosome Mapping, Consanguinity, Coprolalia, Family Health, Female, Gilles de la Tourette syndrome, Homozygosity, Humans, Iran, Male, Nervous system diseases, Neurologic Examination, Self injury, Tourette Syndrome (genetics), Tourette Syndrome (physiopathology), Tourette syndrome, Young Adult, coprolalia, homozygosity mapping, recessive inheritance, self‐injurious behavior.
- MESH :
- geographic : Iran.
- genetics : Tourette Syndrome.
- physiopathology : Tourette Syndrome.
- Adolescent, Adult, Child, Chromosome Mapping, Consanguinity, Family Health, Female, Humans, Male, Neurologic Examination, Young Adult.
Abstract
The search for vulnerability genes for Tourette syndrome has been ongoing for nearly three decades. The contribution of recessive loci with reduced penetrance is one possibility that has been difficult to explore. Homozygosity mapping has been successfully used to detect recessive loci within populations with high rates of consanguinity. Using this technique, even quite small inbred families can be informative due to autozygosity in which the two alleles at an autosomal locus are identical by descent (i.e., copies of a single ancestral gene). To explore the utility of this approach, we identified 12 consanguineous Iranian families. Remarkably, these families were seen with an unusual natural history characterized by the early onset of vocal tics and coprolalia and frequent comorbidity with obsessive‐compulsive disorder. Genotyping the affected and unaffected members of these pedigrees has the potential to identify rare recessive contributions to this disorder. © 2008 Movement Disorder Society
Url:
- https://api.istex.fr/document/DF83BA3CEE79E2BA46C8577C6A4DE6D20537745D/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3972002
DOI: 10.1002/mds.22261
Affiliations:
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Le document en format XML
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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="2008-10-30">2008-10-30</date><biblScope unit="vol">23</biblScope><biblScope unit="issue">14</biblScope><biblScope unit="page" from="2079">2079</biblScope><biblScope unit="page" to="2083">2083</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">DF83BA3CEE79E2BA46C8577C6A4DE6D20537745D</idno><idno type="DOI">10.1002/mds.22261</idno><idno type="ArticleID">MDS22261</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Behavior</term><term>Cartography</term><term>Child</term><term>Chromosome Mapping</term><term>Consanguinity</term><term>Coprolalia</term><term>Family Health</term><term>Female</term><term>Gilles de la Tourette syndrome</term><term>Homozygosity</term><term>Humans</term><term>Iran</term><term>Male</term><term>Nervous system diseases</term><term>Neurologic Examination</term><term>Self injury</term><term>Tourette Syndrome (genetics)</term><term>Tourette Syndrome (physiopathology)</term><term>Tourette syndrome</term><term>Young Adult</term><term>coprolalia</term><term>homozygosity mapping</term><term>recessive inheritance</term><term>self‐injurious behavior</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Iran</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Tourette Syndrome</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Tourette Syndrome</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Chromosome Mapping</term><term>Consanguinity</term><term>Family Health</term><term>Female</term><term>Humans</term><term>Male</term><term>Neurologic Examination</term><term>Young Adult</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Automutilation</term><term>Cartographie</term><term>Comportement</term><term>Coprolalie</term><term>Homozygotie</term><term>Pathologie du système nerveux</term><term>Syndrome de Gilles de la Tourette</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Cartographie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The search for vulnerability genes for Tourette syndrome has been ongoing for nearly three decades. The contribution of recessive loci with reduced penetrance is one possibility that has been difficult to explore. Homozygosity mapping has been successfully used to detect recessive loci within populations with high rates of consanguinity. Using this technique, even quite small inbred families can be informative due to autozygosity in which the two alleles at an autosomal locus are identical by descent (i.e., copies of a single ancestral gene). To explore the utility of this approach, we identified 12 consanguineous Iranian families. Remarkably, these families were seen with an unusual natural history characterized by the early onset of vocal tics and coprolalia and frequent comorbidity with obsessive‐compulsive disorder. Genotyping the affected and unaffected members of these pedigrees has the potential to identify rare recessive contributions to this disorder. © 2008 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Canada</li><li>Iran</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Connecticut</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><country name="États-Unis"><region name="Connecticut"><name sortKey="Motlagh, Maria G" sort="Motlagh, Maria G" uniqKey="Motlagh M" first="Maria G." last="Motlagh">Maria G. Motlagh</name></region><name sortKey="Leckman, James F" sort="Leckman, James F" uniqKey="Leckman J" first="James F." last="Leckman">James F. Leckman</name></country><country name="Iran"><noRegion><name sortKey="Motlagh, Maria G" sort="Motlagh, Maria G" uniqKey="Motlagh M" first="Maria G." last="Motlagh">Maria G. Motlagh</name></noRegion><name sortKey="Alaghband Ad, Javad" sort="Alaghband Ad, Javad" uniqKey="Alaghband Ad J" first="Javad" last="Alaghband-Rad">Javad Alaghband-Rad</name><name sortKey="Dashti, Behnoosh" sort="Dashti, Behnoosh" uniqKey="Dashti B" first="Behnoosh" last="Dashti">Behnoosh Dashti</name><name sortKey="Seddigh, Arshia" sort="Seddigh, Arshia" uniqKey="Seddigh A" first="Arshia" last="Seddigh">Arshia Seddigh</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Seddigh, Arshia" sort="Seddigh, Arshia" uniqKey="Seddigh A" first="Arshia" last="Seddigh">Arshia Seddigh</name></region></country><country name="Canada"><noRegion><name sortKey="Alaghband Ad, Javad" sort="Alaghband Ad, Javad" uniqKey="Alaghband Ad J" first="Javad" last="Alaghband-Rad">Javad Alaghband-Rad</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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