MovDisordV3, PubMed, Checkpoint, bibRecord, 002368

Consanguineous Iranian kindreds with severe Tourette syndrome.

Identifieur interne : 002368 ( PubMed/Checkpoint ); précédent : 002367; suivant : 002369

Consanguineous Iranian kindreds with severe Tourette syndrome.

Auteurs : Maria G. Motlagh [États-Unis] ; Arshia Seddigh ; Behnoosh Dashti ; James F. Leckman ; Javad Alaghband-Rad

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.

RBID : pubmed:18785237

English descriptors

KwdEn :
- Adolescent, Adult, Child, Chromosome Mapping, Consanguinity, Family Health, Female, Humans, Iran, Male, Neurologic Examination, Tourette Syndrome (genetics), Tourette Syndrome (physiopathology), Young Adult.
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.

DOI: 10.1002/mds.22261
PubMed: 18785237

Affiliations:

États-Unis

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pubmed:18785237

Le document en format XML

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<author><name sortKey="Motlagh, Maria G" sort="Motlagh, Maria G" uniqKey="Motlagh M" first="Maria G" last="Motlagh">Maria G. Motlagh</name>
<affiliation wicri:level="1"><nlm:affiliation>Child Study Center Yale University School of Medicine, New Haven, Connecticut 06520-7920, USA. mariamotlagh@yahoo.com</nlm:affiliation>
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<author><name sortKey="Dashti, Behnoosh" sort="Dashti, Behnoosh" uniqKey="Dashti B" first="Behnoosh" last="Dashti">Behnoosh Dashti</name>
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<author><name sortKey="Leckman, James F" sort="Leckman, James F" uniqKey="Leckman J" first="James F" last="Leckman">James F. Leckman</name>
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<author><name sortKey="Alaghband Rad, Javad" sort="Alaghband Rad, Javad" uniqKey="Alaghband Rad J" first="Javad" last="Alaghband-Rad">Javad Alaghband-Rad</name>
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<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.</div>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Consanguineous Iranian kindreds with severe Tourette syndrome.

Consanguineous Iranian kindreds with severe Tourette syndrome.

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

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