Movement Disorders (revue)

Attention, ce site est en cours de développement !
Attention, site généré par des moyens informatiques à partir de corpus bruts.
Les informations ne sont donc pas validées.

Gilles de la Tourette's syndrome in twins: clinical and neurochemical data.

Identifieur interne : 001806 ( Ncbi/Checkpoint ); précédent : 001805; suivant : 001807

Gilles de la Tourette's syndrome in twins: clinical and neurochemical data.

Auteurs : C G Goetz [États-Unis] ; C M Tanner

Source :

RBID : pubmed:1691443

English descriptors

Abstract

A pair of identical twins (probability of monozygosity by genetic marking = 99.99%) with Gilles de la Tourette's syndrome (GTS) were studied clinically and neurochemically. The two boys were distinguished within the family by dramatic differences in their behavior and tics. Twin 1 had severe motor tics, loud vocalizations, coprolalia, and school behavior problems, whereas twin 2 was only mildly affected. Neither boy had ever been treated with medication for his tic disorder. Lumbar puncture was performed on each after a night of bed rest. In spite of the marked clinical differences between the two boys, the major indices of dopamine and serotonin turnover in the cerebrospinal fluid were equivalent. Homovanillic acid levels were 65 and 60 ng/ml, respectively, and 5-hydroxyindoleacetic acid levels were 36 and 39 ng/ml. Observation of these twins suggests that the phenotypic expression of GTS relates to more factors than inheritance. Neurochemical metabolites of dopamine and serotonin did not reflect the comparative clinical severity of GTS in these boys.

DOI: 10.1002/mds.870050216
PubMed: 1691443


Affiliations:


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


Links to Exploration step

pubmed:1691443

Le document en format XML

<record>
<TEI>
<teiHeader>
<fileDesc>
<titleStmt>
<title xml:lang="en">Gilles de la Tourette's syndrome in twins: clinical and neurochemical data.</title>
<author>
<name sortKey="Goetz, C G" sort="Goetz, C G" uniqKey="Goetz C" first="C G" last="Goetz">C G Goetz</name>
<affiliation wicri:level="2">
<nlm:affiliation>Department of Neurological Sciences, Rush Presbyterian-St. Luke's Medical Center, Chicago, Illinois 60612.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName>
<region type="state">Illinois</region>
</placeName>
<wicri:cityArea>Department of Neurological Sciences, Rush Presbyterian-St. Luke's Medical Center, Chicago</wicri:cityArea>
</affiliation>
</author>
<author>
<name sortKey="Tanner, C M" sort="Tanner, C M" uniqKey="Tanner C" first="C M" last="Tanner">C M Tanner</name>
</author>
</titleStmt>
<publicationStmt>
<idno type="wicri:source">PubMed</idno>
<date when="1990">1990</date>
<idno type="RBID">pubmed:1691443</idno>
<idno type="pmid">1691443</idno>
<idno type="doi">10.1002/mds.870050216</idno>
<idno type="wicri:Area/PubMed/Corpus">004F46</idno>
<idno type="wicri:Area/PubMed/Curation">004F46</idno>
<idno type="wicri:Area/PubMed/Checkpoint">004F11</idno>
<idno type="wicri:Area/Ncbi/Merge">001806</idno>
<idno type="wicri:Area/Ncbi/Curation">001806</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">001806</idno>
</publicationStmt>
<sourceDesc>
<biblStruct>
<analytic>
<title xml:lang="en">Gilles de la Tourette's syndrome in twins: clinical and neurochemical data.</title>
<author>
<name sortKey="Goetz, C G" sort="Goetz, C G" uniqKey="Goetz C" first="C G" last="Goetz">C G Goetz</name>
<affiliation wicri:level="2">
<nlm:affiliation>Department of Neurological Sciences, Rush Presbyterian-St. Luke's Medical Center, Chicago, Illinois 60612.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName>
<region type="state">Illinois</region>
</placeName>
<wicri:cityArea>Department of Neurological Sciences, Rush Presbyterian-St. Luke's Medical Center, Chicago</wicri:cityArea>
</affiliation>
</author>
<author>
<name sortKey="Tanner, C M" sort="Tanner, C M" uniqKey="Tanner C" first="C M" last="Tanner">C M Tanner</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="1990" type="published">1990</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc>
<textClass>
<keywords scheme="KwdEn" xml:lang="en">
<term>Child</term>
<term>Diseases in Twins (genetics)</term>
<term>Homovanillic Acid (cerebrospinal fluid)</term>
<term>Humans</term>
<term>Hydroxyindoleacetic Acid (cerebrospinal fluid)</term>
<term>Male</term>
<term>Tourette Syndrome (cerebrospinal fluid)</term>
<term>Tourette Syndrome (genetics)</term>
<term>Tourette Syndrome (physiopathology)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="cerebrospinal fluid" xml:lang="en">
<term>Homovanillic Acid</term>
<term>Hydroxyindoleacetic Acid</term>
</keywords>
<keywords scheme="MESH" qualifier="cerebrospinal fluid" xml:lang="en">
<term>Tourette Syndrome</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en">
<term>Diseases in Twins</term>
<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>Child</term>
<term>Humans</term>
<term>Male</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">A pair of identical twins (probability of monozygosity by genetic marking = 99.99%) with Gilles de la Tourette's syndrome (GTS) were studied clinically and neurochemically. The two boys were distinguished within the family by dramatic differences in their behavior and tics. Twin 1 had severe motor tics, loud vocalizations, coprolalia, and school behavior problems, whereas twin 2 was only mildly affected. Neither boy had ever been treated with medication for his tic disorder. Lumbar puncture was performed on each after a night of bed rest. In spite of the marked clinical differences between the two boys, the major indices of dopamine and serotonin turnover in the cerebrospinal fluid were equivalent. Homovanillic acid levels were 65 and 60 ng/ml, respectively, and 5-hydroxyindoleacetic acid levels were 36 and 39 ng/ml. Observation of these twins suggests that the phenotypic expression of GTS relates to more factors than inheritance. Neurochemical metabolites of dopamine and serotonin did not reflect the comparative clinical severity of GTS in these boys.</div>
</front>
</TEI>
<affiliations>
<list>
<country>
<li>États-Unis</li>
</country>
<region>
<li>Illinois</li>
</region>
</list>
<tree>
<noCountry>
<name sortKey="Tanner, C M" sort="Tanner, C M" uniqKey="Tanner C" first="C M" last="Tanner">C M Tanner</name>
</noCountry>
<country name="États-Unis">
<region name="Illinois">
<name sortKey="Goetz, C G" sort="Goetz, C G" uniqKey="Goetz C" first="C G" last="Goetz">C G Goetz</name>
</region>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001806 | SxmlIndent | more

Ou

HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd -nk 001806 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Ncbi
   |étape=   Checkpoint
   |type=    RBID
   |clé=     pubmed:1691443
   |texte=   Gilles de la Tourette's syndrome in twins: clinical and neurochemical data.
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/RBID.i   -Sk "pubmed:1691443" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd   \
       | NlmPubMed2Wicri -a MovDisordV3 

Wicri

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024