Fragile X syndrome associated with tic disorders.
Identifieur interne : 002285 ( PubMed/Checkpoint ); précédent : 002284; suivant : 002286Fragile X syndrome associated with tic disorders.
Auteurs : Susanne A. Schneider [Royaume-Uni] ; Mary M. Robertson ; Renata Rizzo ; Jeremy Turk ; Kailash P. Bhatia ; Michael OrthSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
English descriptors
- KwdEn :
- Adolescent, Adult, Child, Child, Preschool, Comorbidity, Consanguinity, DNA Mutational Analysis, Follow-Up Studies, Fragile X Mental Retardation Protein (genetics), Fragile X Syndrome (diagnosis), Fragile X Syndrome (genetics), Humans, Infant, Intellectual Disability (diagnosis), Intellectual Disability (genetics), Jews (genetics), Male, Mental Status Schedule, Neurologic Examination, Phenotype, Tic Disorders (diagnosis), Tic Disorders (genetics), Tourette Syndrome (diagnosis), Tourette Syndrome (genetics), Trinucleotide Repeats.
- MESH :
- chemical , genetics : Fragile X Mental Retardation Protein.
- diagnosis : Fragile X Syndrome, Intellectual Disability, Tic Disorders, Tourette Syndrome.
- genetics : Fragile X Syndrome, Intellectual Disability, Jews, Tic Disorders, Tourette Syndrome.
- Adolescent, Adult, Child, Child, Preschool, Comorbidity, Consanguinity, DNA Mutational Analysis, Follow-Up Studies, Humans, Infant, Male, Mental Status Schedule, Neurologic Examination, Phenotype, Trinucleotide Repeats.
Abstract
Movement disorders other than late onset tremor-ataxia in association with fragile X syndrome, the most common identifiable cause of inherited mental retardation, seem to be rare. Here we describe five male patients from three unrelated families with fragile X syndrome that presented with motor and phonic tics. Clinically, 4 patients fulfilled diagnostic criteria for Gilles de la Tourette syndrome (GTS) while 1 patient would have been diagnosed with an adult onset tic disorder. However, in all patients onset of tics was considerably later than in typical GTS. Three patients had atypical tics and two patients reported waxing and waning of tic intensity over time. Four of the 5 patients showed clinical signs typical of fragile X syndrome, in particular dysmorphic features, learning difficulties and speech and language problems that required special treatment. All patients had co-morbidities common to both GTS and fragile X syndrome. We suggest considering fragile X syndrome in GTS complicated by co-morbidity with late onset of atypical tics, in particular when learning disability and dysmorphic features are present.
DOI: 10.1002/mds.21995
PubMed: 18383111
Affiliations:
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Robertson</name></author><author><name sortKey="Rizzo, Renata" sort="Rizzo, Renata" uniqKey="Rizzo R" first="Renata" last="Rizzo">Renata Rizzo</name></author><author><name sortKey="Turk, Jeremy" sort="Turk, Jeremy" uniqKey="Turk J" first="Jeremy" last="Turk">Jeremy Turk</name></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name></author><author><name sortKey="Orth, Michael" sort="Orth, Michael" uniqKey="Orth M" first="Michael" last="Orth">Michael Orth</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2008">2008</date><idno type="doi">10.1002/mds.21995</idno><idno type="RBID">pubmed:18383111</idno><idno type="pmid">18383111</idno><idno type="wicri:Area/PubMed/Corpus">002276</idno><idno type="wicri:Area/PubMed/Curation">002276</idno><idno type="wicri:Area/PubMed/Checkpoint">002285</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Fragile X syndrome associated with tic disorders.</title><author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A" last="Schneider">Susanne A. Schneider</name><affiliation wicri:level="3"><nlm:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Robertson, Mary M" sort="Robertson, Mary M" uniqKey="Robertson M" first="Mary M" last="Robertson">Mary M. Robertson</name></author><author><name sortKey="Rizzo, Renata" sort="Rizzo, Renata" uniqKey="Rizzo R" first="Renata" last="Rizzo">Renata Rizzo</name></author><author><name sortKey="Turk, Jeremy" sort="Turk, Jeremy" uniqKey="Turk J" first="Jeremy" last="Turk">Jeremy Turk</name></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name></author><author><name sortKey="Orth, Michael" sort="Orth, Michael" uniqKey="Orth M" first="Michael" last="Orth">Michael Orth</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2008" type="published">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Child, Preschool</term><term>Comorbidity</term><term>Consanguinity</term><term>DNA Mutational Analysis</term><term>Follow-Up Studies</term><term>Fragile X Mental Retardation Protein (genetics)</term><term>Fragile X Syndrome (diagnosis)</term><term>Fragile X Syndrome (genetics)</term><term>Humans</term><term>Infant</term><term>Intellectual Disability (diagnosis)</term><term>Intellectual Disability (genetics)</term><term>Jews (genetics)</term><term>Male</term><term>Mental Status Schedule</term><term>Neurologic Examination</term><term>Phenotype</term><term>Tic Disorders (diagnosis)</term><term>Tic Disorders (genetics)</term><term>Tourette Syndrome (diagnosis)</term><term>Tourette Syndrome (genetics)</term><term>Trinucleotide Repeats</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Fragile X Mental Retardation Protein</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Fragile X Syndrome</term><term>Intellectual Disability</term><term>Tic Disorders</term><term>Tourette Syndrome</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Fragile X Syndrome</term><term>Intellectual Disability</term><term>Jews</term><term>Tic Disorders</term><term>Tourette Syndrome</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Child, Preschool</term><term>Comorbidity</term><term>Consanguinity</term><term>DNA Mutational Analysis</term><term>Follow-Up Studies</term><term>Humans</term><term>Infant</term><term>Male</term><term>Mental Status Schedule</term><term>Neurologic Examination</term><term>Phenotype</term><term>Trinucleotide Repeats</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Movement disorders other than late onset tremor-ataxia in association with fragile X syndrome, the most common identifiable cause of inherited mental retardation, seem to be rare. Here we describe five male patients from three unrelated families with fragile X syndrome that presented with motor and phonic tics. Clinically, 4 patients fulfilled diagnostic criteria for Gilles de la Tourette syndrome (GTS) while 1 patient would have been diagnosed with an adult onset tic disorder. However, in all patients onset of tics was considerably later than in typical GTS. Three patients had atypical tics and two patients reported waxing and waning of tic intensity over time. Four of the 5 patients showed clinical signs typical of fragile X syndrome, in particular dysmorphic features, learning difficulties and speech and language problems that required special treatment. All patients had co-morbidities common to both GTS and fragile X syndrome. We suggest considering fragile X syndrome in GTS complicated by co-morbidity with late onset of atypical tics, in particular when learning disability and dysmorphic features are present.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">18383111</PMID><DateCreated><Year>2008</Year><Month>07</Month><Day>10</Day></DateCreated><DateCompleted><Year>2008</Year><Month>10</Month><Day>20</Day></DateCompleted><DateRevised><Year>2011</Year><Month>11</Month><Day>17</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>23</Volume><Issue>8</Issue><PubDate><Year>2008</Year><Month>Jun</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Fragile X syndrome associated with tic disorders.</ArticleTitle><Pagination><MedlinePgn>1108-12</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.21995</ELocationID><Abstract><AbstractText>Movement disorders other than late onset tremor-ataxia in association with fragile X syndrome, the most common identifiable cause of inherited mental retardation, seem to be rare. Here we describe five male patients from three unrelated families with fragile X syndrome that presented with motor and phonic tics. Clinically, 4 patients fulfilled diagnostic criteria for Gilles de la Tourette syndrome (GTS) while 1 patient would have been diagnosed with an adult onset tic disorder. However, in all patients onset of tics was considerably later than in typical GTS. Three patients had atypical tics and two patients reported waxing and waning of tic intensity over time. Four of the 5 patients showed clinical signs typical of fragile X syndrome, in particular dysmorphic features, learning difficulties and speech and language problems that required special treatment. All patients had co-morbidities common to both GTS and fragile X syndrome. We suggest considering fragile X syndrome in GTS complicated by co-morbidity with late onset of atypical tics, in particular when learning disability and dysmorphic features are present.</AbstractText><CopyrightInformation>(c) 2008 Movement Disorder Society</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Schneider</LastName><ForeName>Susanne A</ForeName><Initials>SA</Initials><AffiliationInfo><Affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Robertson</LastName><ForeName>Mary M</ForeName><Initials>MM</Initials></Author><Author ValidYN="Y"><LastName>Rizzo</LastName><ForeName>Renata</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Turk</LastName><ForeName>Jeremy</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Bhatia</LastName><ForeName>Kailash P</ForeName><Initials>KP</Initials></Author><Author ValidYN="Y"><LastName>Orth</LastName><ForeName>Michael</ForeName><Initials>M</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C497683">FMR1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>139135-51-6</RegistryNumber><NameOfSubstance UI="D051860">Fragile X Mental Retardation Protein</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" 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MajorTopicYN="N" UI="D005600">Fragile X Syndrome</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007223">Infant</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008607">Intellectual Disability</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007585">Jews</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008609">Mental Status Schedule</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009460">Neurologic Examination</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D013981">Tic Disorders</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005879">Tourette Syndrome</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018911">Trinucleotide Repeats</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2008</Year><Month>4</Month><Day>3</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2008</Year><Month>10</Month><Day>22</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2008</Year><Month>4</Month><Day>3</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.21995</ArticleId><ArticleId IdType="pubmed">18383111</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><noCountry><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name><name sortKey="Orth, Michael" sort="Orth, Michael" uniqKey="Orth M" first="Michael" last="Orth">Michael Orth</name><name sortKey="Rizzo, Renata" sort="Rizzo, Renata" uniqKey="Rizzo R" first="Renata" last="Rizzo">Renata Rizzo</name><name sortKey="Robertson, Mary M" sort="Robertson, Mary M" uniqKey="Robertson M" first="Mary M" last="Robertson">Mary M. Robertson</name><name sortKey="Turk, Jeremy" sort="Turk, Jeremy" uniqKey="Turk J" first="Jeremy" last="Turk">Jeremy Turk</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A" last="Schneider">Susanne A. Schneider</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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