MovDisordV3, PascalFrancis, Corpus, bibRecord, 001451

A Large Italian Family with Gilles de la Tourette Syndrome : Clinical Study and Analysis of the SLITRK1 Gene

Identifieur interne : 001451 ( PascalFrancis/Corpus ); précédent : 001450; suivant : 001452

A Large Italian Family with Gilles de la Tourette Syndrome : Clinical Study and Analysis of the SLITRK1 Gene

Auteurs : Giovanni Fabbrini ; Massimo Pasquini ; Cinzia Aurilia ; Isabella Berardelli ; Guido Breedveld ; Ben A. Oostra ; Vincenzo Bonifati ; Alfredo Berardelli

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:08-0071410

Descripteurs français

Pascal (Inist)
- Pathologie du système nerveux, Syndrome de Gilles de la Tourette, Tic, Obsession compulsion, Italien.

English descriptors

KwdEn :
- Gilles de la Tourette syndrome, Italian, Nervous system diseases, Obsessive compulsive disorder, Tic.

Abstract

Our objective was to report the clinical characteristics and to investigate the role of SLITRK1 gene in a large Italian family with Tourette syndrome (TS). The diagnosis of TS and chronic motor tics (CMT) was made according to "The Tourette Syndrome Classification Study Group" (1993). Psychiatric diagnoses were made by administering the Structured Clinical Interview for DSM and the Yale-Brown Obsessive Compulsive Scale. Genetic study included direct sequencing and copy number analysis of the SLITRK1 gene, and haplotype analysis. We found tics or other behavioral manifestations in 15 subjects. Of these, 5 received a diagnosis of definite TS, 5 were classified as having definite CMT, 2 had definite nonspecific tic disorder, and 3 patients had obsessive-compulsive disorder without motor or phonic tics. Tics mainly involved the cranio-cervical district. Many patients with tics had coexisting psychiatric disorders, especially obsessive-compulsive disorder, performed poorly at school and had social problems. Direct sequencing and copy number analysis of the SLITRK1 gene, and haplotype analysis suggested that the SLITRK1 locus was not involved in this family. In conclusion, the distinctive clinical features in this family are the motor tics mainly involving the face and the neck and the severe coexisting psychiatric disorders. The negative results of the SLITRK1 analysis point to genetic heterogeneity in TS.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A11	`01`	`1`		`@1 FABBRINI (Giovanni)`
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A11	`05`	`1`		`@1 BREEDVELD (Guido)`
A11	`06`	`1`		`@1 OOSTRA (Ben A.)`
A11	`07`	`1`		`@1 BONIFATI (Vincenzo)`
A11	`08`	`1`		`@1 BERARDELLI (Alfredo)`
A14	`01`			`@1 Department of Neurological Sciences and Neuromed Institute, University "La Sapienza" @2 Rome @3 ITA @Z 1 aut. @Z 8 aut.`
A14	`02`			`@1 Department of Psychiatric Science and Psychological Medicine, University "La Sapienza" @2 Rome @3 ITA @Z 2 aut. @Z 4 aut.`
A14	`03`			`@1 Department of Neurological, Motor and Sensorial Sciences, IRCCS San Raffaele @2 Rome @3 ITA @Z 3 aut.`
A14	`04`			`@1 Department of Clinical Genetics, Erasmus MC @2 Rotterdam @3 NLD @Z 5 aut. @Z 6 aut. @Z 7 aut.`
A20				`@1 2229-2234`
A21				`@1 2007`
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A44				`@0 0000 @1 © 2008 INIST-CNRS. All rights reserved.`
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C01	`01`		`ENG`	@0 Our objective was to report the clinical characteristics and to investigate the role of SLITRK1 gene in a large Italian family with Tourette syndrome (TS). The diagnosis of TS and chronic motor tics (CMT) was made according to "The Tourette Syndrome Classification Study Group" (1993). Psychiatric diagnoses were made by administering the Structured Clinical Interview for DSM and the Yale-Brown Obsessive Compulsive Scale. Genetic study included direct sequencing and copy number analysis of the SLITRK1 gene, and haplotype analysis. We found tics or other behavioral manifestations in 15 subjects. Of these, 5 received a diagnosis of definite TS, 5 were classified as having definite CMT, 2 had definite nonspecific tic disorder, and 3 patients had obsessive-compulsive disorder without motor or phonic tics. Tics mainly involved the cranio-cervical district. Many patients with tics had coexisting psychiatric disorders, especially obsessive-compulsive disorder, performed poorly at school and had social problems. Direct sequencing and copy number analysis of the SLITRK1 gene, and haplotype analysis suggested that the SLITRK1 locus was not involved in this family. In conclusion, the distinctive clinical features in this family are the motor tics mainly involving the face and the neck and the severe coexisting psychiatric disorders. The negative results of the SLITRK1 analysis point to genetic heterogeneity in TS.
C02	`01`	`X`		`@0 002B17`
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C03	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Syndrome de Gilles de la Tourette @5 02`
C03	`02`	`X`	`ENG`	`@0 Gilles de la Tourette syndrome @5 02`
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C03	`05`	`X`	`ENG`	`@0 Italian @5 09`
C03	`05`	`X`	`SPA`	`@0 Italiano @5 09`
C07	`01`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 37`
C07	`01`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
C07	`01`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Maladie dégénérative @5 38`
C07	`02`	`X`	`ENG`	`@0 Degenerative disease @5 38`
C07	`02`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 38`
C07	`03`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 39`
C07	`03`	`X`	`ENG`	`@0 Central nervous system disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 39`
C07	`04`	`X`	`FRE`	`@0 Mouvement involontaire @5 41`
C07	`04`	`X`	`ENG`	`@0 Involuntary movement @5 41`
C07	`04`	`X`	`SPA`	`@0 Movimiento involuntario @5 41`
C07	`05`	`X`	`FRE`	`@0 Trouble neurologique @5 42`
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Format Inist (serveur)

NO :	PASCAL 08-0071410 INIST
ET :	A Large Italian Family with Gilles de la Tourette Syndrome : Clinical Study and Analysis of the SLITRK1 Gene
AU :	FABBRINI (Giovanni); PASQUINI (Massimo); AURILIA (Cinzia); BERARDELLI (Isabella); BREEDVELD (Guido); OOSTRA (Ben A.); BONIFATI (Vincenzo); BERARDELLI (Alfredo)
AF :	Department of Neurological Sciences and Neuromed Institute, University "La Sapienza"/Rome/Italie (1 aut., 8 aut.); Department of Psychiatric Science and Psychological Medicine, University "La Sapienza"/Rome/Italie (2 aut., 4 aut.); Department of Neurological, Motor and Sensorial Sciences, IRCCS San Raffaele/Rome/Italie (3 aut.); Department of Clinical Genetics, Erasmus MC/Rotterdam/Pays-Bas (5 aut., 6 aut., 7 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 15; Pp. 2229-2234; Bibl. 30 ref.
LA :	Anglais
EA :	Our objective was to report the clinical characteristics and to investigate the role of SLITRK1 gene in a large Italian family with Tourette syndrome (TS). The diagnosis of TS and chronic motor tics (CMT) was made according to "The Tourette Syndrome Classification Study Group" (1993). Psychiatric diagnoses were made by administering the Structured Clinical Interview for DSM and the Yale-Brown Obsessive Compulsive Scale. Genetic study included direct sequencing and copy number analysis of the SLITRK1 gene, and haplotype analysis. We found tics or other behavioral manifestations in 15 subjects. Of these, 5 received a diagnosis of definite TS, 5 were classified as having definite CMT, 2 had definite nonspecific tic disorder, and 3 patients had obsessive-compulsive disorder without motor or phonic tics. Tics mainly involved the cranio-cervical district. Many patients with tics had coexisting psychiatric disorders, especially obsessive-compulsive disorder, performed poorly at school and had social problems. Direct sequencing and copy number analysis of the SLITRK1 gene, and haplotype analysis suggested that the SLITRK1 locus was not involved in this family. In conclusion, the distinctive clinical features in this family are the motor tics mainly involving the face and the neck and the severe coexisting psychiatric disorders. The negative results of the SLITRK1 analysis point to genetic heterogeneity in TS.
CC :	002B17; 002B17G; 002B17D
FD :	Pathologie du système nerveux; Syndrome de Gilles de la Tourette; Tic; Obsession compulsion; Italien
FG :	Pathologie de l'encéphale; Maladie dégénérative; Pathologie du système nerveux central; Mouvement involontaire; Trouble neurologique; Trouble anxieux
ED :	Nervous system diseases; Gilles de la Tourette syndrome; Tic; Obsessive compulsive disorder; Italian
EG :	Cerebral disorder; Degenerative disease; Central nervous system disease; Involuntary movement; Neurological disorder; Anxiety disorder
SD :	Sistema nervioso patología; Gilles de la Tourette síndrome; Tic; Obsesión compulsión; Italiano
LO :	INIST-20953.354000162671070140
ID :	08-0071410

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Pascal:08-0071410

Le document en format XML

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<front><div type="abstract" xml:lang="en">Our objective was to report the clinical characteristics and to investigate the role of SLITRK1 gene in a large Italian family with Tourette syndrome (TS). The diagnosis of TS and chronic motor tics (CMT) was made according to "The Tourette Syndrome Classification Study Group" (1993). Psychiatric diagnoses were made by administering the Structured Clinical Interview for DSM and the Yale-Brown Obsessive Compulsive Scale. Genetic study included direct sequencing and copy number analysis of the SLITRK1 gene, and haplotype analysis. We found tics or other behavioral manifestations in 15 subjects. Of these, 5 received a diagnosis of definite TS, 5 were classified as having definite CMT, 2 had definite nonspecific tic disorder, and 3 patients had obsessive-compulsive disorder without motor or phonic tics. Tics mainly involved the cranio-cervical district. Many patients with tics had coexisting psychiatric disorders, especially obsessive-compulsive disorder, performed poorly at school and had social problems. Direct sequencing and copy number analysis of the SLITRK1 gene, and haplotype analysis suggested that the SLITRK1 locus was not involved in this family. In conclusion, the distinctive clinical features in this family are the motor tics mainly involving the face and the neck and the severe coexisting psychiatric disorders. The negative results of the SLITRK1 analysis point to genetic heterogeneity in TS.</div>
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<fA45><s0>30 ref.</s0>
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<fA47 i1="01" i2="1"><s0>08-0071410</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>Our objective was to report the clinical characteristics and to investigate the role of SLITRK1 gene in a large Italian family with Tourette syndrome (TS). The diagnosis of TS and chronic motor tics (CMT) was made according to "The Tourette Syndrome Classification Study Group" (1993). Psychiatric diagnoses were made by administering the Structured Clinical Interview for DSM and the Yale-Brown Obsessive Compulsive Scale. Genetic study included direct sequencing and copy number analysis of the SLITRK1 gene, and haplotype analysis. We found tics or other behavioral manifestations in 15 subjects. Of these, 5 received a diagnosis of definite TS, 5 were classified as having definite CMT, 2 had definite nonspecific tic disorder, and 3 patients had obsessive-compulsive disorder without motor or phonic tics. Tics mainly involved the cranio-cervical district. Many patients with tics had coexisting psychiatric disorders, especially obsessive-compulsive disorder, performed poorly at school and had social problems. Direct sequencing and copy number analysis of the SLITRK1 gene, and haplotype analysis suggested that the SLITRK1 locus was not involved in this family. In conclusion, the distinctive clinical features in this family are the motor tics mainly involving the face and the neck and the severe coexisting psychiatric disorders. The negative results of the SLITRK1 analysis point to genetic heterogeneity in TS.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17G</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B17D</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Pathologie du   système nerveux</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Syndrome de Gilles de la Tourette</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Gilles de la Tourette syndrome</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Gilles de la Tourette síndrome</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Tic</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Tic</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Tic</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Obsession compulsion</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Obsessive compulsive disorder</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Obsesión compulsión</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Italien</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Italian</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Italiano</s0>
<s5>09</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Trouble anxieux</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Anxiety disorder</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Trastorno ansiedad</s0>
<s5>43</s5>
</fC07>
<fN21><s1>035</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
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<server><NO>PASCAL 08-0071410 INIST</NO>
<ET>A Large Italian Family with Gilles de la Tourette Syndrome : Clinical Study and Analysis of the SLITRK1 Gene</ET>
<AU>FABBRINI (Giovanni); PASQUINI (Massimo); AURILIA (Cinzia); BERARDELLI (Isabella); BREEDVELD (Guido); OOSTRA (Ben A.); BONIFATI (Vincenzo); BERARDELLI (Alfredo)</AU>
<AF>Department of Neurological Sciences and Neuromed Institute, University "La Sapienza"/Rome/Italie (1 aut., 8 aut.); Department of Psychiatric Science and Psychological Medicine, University "La Sapienza"/Rome/Italie (2 aut., 4 aut.); Department of Neurological, Motor and Sensorial Sciences, IRCCS San Raffaele/Rome/Italie (3 aut.); Department of Clinical Genetics, Erasmus MC/Rotterdam/Pays-Bas (5 aut., 6 aut., 7 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 15; Pp. 2229-2234; Bibl. 30 ref.</SO>
<LA>Anglais</LA>
<EA>Our objective was to report the clinical characteristics and to investigate the role of SLITRK1 gene in a large Italian family with Tourette syndrome (TS). The diagnosis of TS and chronic motor tics (CMT) was made according to "The Tourette Syndrome Classification Study Group" (1993). Psychiatric diagnoses were made by administering the Structured Clinical Interview for DSM and the Yale-Brown Obsessive Compulsive Scale. Genetic study included direct sequencing and copy number analysis of the SLITRK1 gene, and haplotype analysis. We found tics or other behavioral manifestations in 15 subjects. Of these, 5 received a diagnosis of definite TS, 5 were classified as having definite CMT, 2 had definite nonspecific tic disorder, and 3 patients had obsessive-compulsive disorder without motor or phonic tics. Tics mainly involved the cranio-cervical district. Many patients with tics had coexisting psychiatric disorders, especially obsessive-compulsive disorder, performed poorly at school and had social problems. Direct sequencing and copy number analysis of the SLITRK1 gene, and haplotype analysis suggested that the SLITRK1 locus was not involved in this family. In conclusion, the distinctive clinical features in this family are the motor tics mainly involving the face and the neck and the severe coexisting psychiatric disorders. The negative results of the SLITRK1 analysis point to genetic heterogeneity in TS.</EA>
<CC>002B17; 002B17G; 002B17D</CC>
<FD>Pathologie du   système nerveux; Syndrome de Gilles de la Tourette; Tic; Obsession compulsion; Italien</FD>
<FG>Pathologie de l'encéphale; Maladie dégénérative; Pathologie du   système nerveux central; Mouvement involontaire; Trouble neurologique; Trouble anxieux</FG>
<ED>Nervous system diseases; Gilles de la Tourette syndrome; Tic; Obsessive compulsive disorder; Italian</ED>
<EG>Cerebral disorder; Degenerative disease; Central nervous system disease; Involuntary movement; Neurological disorder; Anxiety disorder</EG>
<SD>Sistema nervioso patología; Gilles de la Tourette síndrome; Tic; Obsesión compulsión; Italiano</SD>
<LO>INIST-20953.354000162671070140</LO>
<ID>08-0071410</ID>
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	Movement Disorders (revue)
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Movement Disorders (revue)

A Large Italian Family with Gilles de la Tourette Syndrome : Clinical Study and Analysis of the SLITRK1 Gene

A Large Italian Family with Gilles de la Tourette Syndrome : Clinical Study and Analysis of the SLITRK1 Gene

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