Fragile X syndrome associated with tic disorders
Identifieur interne : 002835 ( Main/Exploration ); précédent : 002834; suivant : 002836Fragile X syndrome associated with tic disorders
Auteurs : Susanne A. Schneider [Royaume-Uni] ; Mary M. Robertson [Royaume-Uni] ; Renata Rizzo [Italie] ; Jeremy Turk [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; Michael Orth [Royaume-Uni, Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-06-15.
Descripteurs français
- Pascal (Inist)
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), Fragile X syndrome, Gilles de la Tourette syndrome, Humans, Infant, Intellectual Disability (diagnosis), Intellectual Disability (genetics), Jews (genetics), Male, Mental Status Schedule, Nervous system diseases, Neurologic Examination, Phenotype, Tic, Tic Disorders (diagnosis), Tic Disorders (genetics), Tourette Syndrome (diagnosis), Tourette Syndrome (genetics), Trinucleotide Repeats, fragile X syndrome, tics.
- 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. © 2008 Movement Disorder Society
Url:
DOI: 10.1002/mds.21995
Affiliations:
- Allemagne, Italie, Royaume-Uni
- Angleterre, Grand Londres, Hambourg
- Hambourg, Londres
- Université de Londres
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Le document en format XML
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Schneider</name><affiliation wicri:level="3"><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><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Mental Health Sciences, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Current Address: Department of Neurology, St.George's Hospital and Medical School, Blackshaw Road, Tooting London, SW17 0QT</wicri:regionArea><wicri:noRegion>SW17 0QT</wicri:noRegion></affiliation></author><author><name sortKey="Rizzo, Renata" sort="Rizzo, Renata" uniqKey="Rizzo R" first="Renata" last="Rizzo">Renata Rizzo</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Paediatrics, University of Catania</wicri:regionArea><wicri:noRegion>University of Catania</wicri:noRegion></affiliation></author><author><name sortKey="Turk, Jeremy" sort="Turk, Jeremy" uniqKey="Turk J" first="Jeremy" last="Turk">Jeremy Turk</name><affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Academic Child and Adolescent Mental Health, Division of Clinical Developmental Sciences, St. George's, University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><affiliation wicri:level="3"><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="Orth, Michael" sort="Orth, Michael" uniqKey="Orth M" first="Michael" last="Orth">Michael Orth</name><affiliation wicri:level="3"><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><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Universitätsklinikum Eppendorf, Hamburg</wicri:regionArea><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2008-06-15">2008-06-15</date><biblScope unit="vol">23</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="1108">1108</biblScope><biblScope unit="page" to="1112">1112</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">BF6C49D4801426854F5E62D762EDD7B1E12CB757</idno><idno type="DOI">10.1002/mds.21995</idno><idno type="ArticleID">MDS21995</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></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>Fragile X syndrome</term><term>Gilles de la Tourette syndrome</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>Nervous system diseases</term><term>Neurologic Examination</term><term>Phenotype</term><term>Tic</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><term>fragile X syndrome</term><term>tics</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><keywords scheme="Pascal" xml:lang="fr"><term>Pathologie du système nerveux</term><term>Syndrome de Gilles de la Tourette</term><term>Syndrome du chromosome X fragile</term><term>Tic</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></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. © 2008 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Italie</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Hambourg</li></region><settlement><li>Hambourg</li><li>Londres</li></settlement><orgName><li>Université de Londres</li></orgName></list><tree><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><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="Robertson, Mary M" sort="Robertson, Mary M" uniqKey="Robertson M" first="Mary M." last="Robertson">Mary M. Robertson</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></country><country name="Italie"><noRegion><name sortKey="Rizzo, Renata" sort="Rizzo, Renata" uniqKey="Rizzo R" first="Renata" last="Rizzo">Renata Rizzo</name></noRegion></country><country name="Allemagne"><region name="Hambourg"><name sortKey="Orth, Michael" sort="Orth, Michael" uniqKey="Orth M" first="Michael" last="Orth">Michael Orth</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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