A large Italian family with Gilles de la Tourette syndrome: clinical study and analysis of the SLITRK1 gene.
Identifieur interne : 002552 ( PubMed/Curation ); précédent : 002551; suivant : 002553A large Italian family with Gilles de la Tourette syndrome: clinical study and analysis of the SLITRK1 gene.
Auteurs : Giovanni Fabbrini [Italie] ; Massimo Pasquini ; Cinzia Aurilia ; Isabella Berardelli ; Guido Breedveld ; Ben A. Oostra ; Vincenzo Bonifati ; Alfredo BerardelliSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
Descripteurs français
- Wicri :
- geographic : Italie.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Membrane Proteins, Nerve Tissue Proteins.
- geographic : Italy.
- genetics : Tourette Syndrome.
- Adolescent, Adult, Aged, 80 and over, Child, Family Health, Female, Gene Dosage, Genetic Heterogeneity, Haplotypes, Humans, Male, Middle Aged, Pedigree, Phenotype.
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 craniocervical 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.
DOI: 10.1002/mds.21697
PubMed: 17712845
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Oostra</name></author><author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name></author><author><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21697</idno><idno type="RBID">pubmed:17712845</idno><idno type="pmid">17712845</idno><idno type="wicri:Area/PubMed/Corpus">002552</idno><idno type="wicri:Area/PubMed/Curation">002552</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">A large Italian family with Gilles de la Tourette syndrome: clinical study and analysis of the SLITRK1 gene.</title><author><name sortKey="Fabbrini, Giovanni" sort="Fabbrini, Giovanni" uniqKey="Fabbrini G" first="Giovanni" last="Fabbrini">Giovanni Fabbrini</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurological Sciences and Neuromed Institute, University "La Sapienza", Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences and Neuromed Institute, University "La Sapienza", Rome</wicri:regionArea></affiliation></author><author><name sortKey="Pasquini, Massimo" sort="Pasquini, Massimo" uniqKey="Pasquini M" first="Massimo" last="Pasquini">Massimo Pasquini</name></author><author><name sortKey="Aurilia, Cinzia" sort="Aurilia, Cinzia" uniqKey="Aurilia C" first="Cinzia" last="Aurilia">Cinzia Aurilia</name></author><author><name sortKey="Berardelli, Isabella" sort="Berardelli, Isabella" uniqKey="Berardelli I" first="Isabella" last="Berardelli">Isabella Berardelli</name></author><author><name sortKey="Breedveld, Guido" sort="Breedveld, Guido" uniqKey="Breedveld G" first="Guido" last="Breedveld">Guido Breedveld</name></author><author><name sortKey="Oostra, Ben A" sort="Oostra, Ben A" uniqKey="Oostra B" first="Ben A" last="Oostra">Ben A. Oostra</name></author><author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name></author><author><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</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>Adolescent</term><term>Adult</term><term>Aged, 80 and over</term><term>Child</term><term>Family Health</term><term>Female</term><term>Gene Dosage</term><term>Genetic Heterogeneity</term><term>Haplotypes</term><term>Humans</term><term>Italy</term><term>Male</term><term>Membrane Proteins (genetics)</term><term>Middle Aged</term><term>Nerve Tissue Proteins (genetics)</term><term>Pedigree</term><term>Phenotype</term><term>Tourette Syndrome (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Membrane Proteins</term><term>Nerve Tissue Proteins</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Italy</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Tourette Syndrome</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged, 80 and over</term><term>Child</term><term>Family Health</term><term>Female</term><term>Gene Dosage</term><term>Genetic Heterogeneity</term><term>Haplotypes</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Phenotype</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Italie</term></keywords></textClass></profileDesc></teiHeader><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 craniocervical 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></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17712845</PMID><DateCreated><Year>2007</Year><Month>12</Month><Day>06</Day></DateCreated><DateCompleted><Year>2008</Year><Month>01</Month><Day>31</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>22</Volume><Issue>15</Issue><PubDate><Year>2007</Year><Month>Nov</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>A large Italian family with Gilles de la Tourette syndrome: clinical study and analysis of the SLITRK1 gene.</ArticleTitle><Pagination><MedlinePgn>2229-34</MedlinePgn></Pagination><Abstract><AbstractText>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 craniocervical 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. 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