Phenotypic characterization of DYT13 primary torsion dystonia
Identifieur interne : 003C16 ( Main/Exploration ); précédent : 003C15; suivant : 003C17Phenotypic characterization of DYT13 primary torsion dystonia
Auteurs : Anna Rita Bentivoglio [Italie] ; Tamara Ialongo [Italie] ; M. Fiorella Contarino [Italie] ; Enza M. Valente [Italie] ; Alberto Albanese [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2004-02.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Activities of Daily Living (classification), Adolescent, Adult, Aged, Child, Child, Preschool, Chromosome Aberrations, Chromosome Mapping, Chromosomes, Human, Pair 1, DYT13, Disability Evaluation, Dystonia, Dystonia Musculorum Deformans (diagnosis), Dystonia Musculorum Deformans (genetics), Dystonic Disorders (diagnosis), Dystonic Disorders (genetics), Female, Follow-Up Studies, Genes, Dominant (genetics), Histone Acetyltransferases, Humans, Male, Middle Aged, Nervous system diseases, Neurologic Examination, PTD, Pedigree, Penetrance, Phenotype, TATA-Binding Protein Associated Factors (genetics), Torsion, Transcription Factor TFIID (genetics), family study, phenotype, primary torsion dystonia.
- MESH :
- chemical , genetics : TATA-Binding Protein Associated Factors, Transcription Factor TFIID.
- chemical : Histone Acetyltransferases.
- classification : Activities of Daily Living.
- diagnosis : Dystonia Musculorum Deformans, Dystonic Disorders.
- genetics : Dystonia Musculorum Deformans, Dystonic Disorders, Genes, Dominant.
- Adolescent, Adult, Aged, Child, Child, Preschool, Chromosome Aberrations, Chromosome Mapping, Chromosomes, Human, Pair 1, Disability Evaluation, Female, Follow-Up Studies, Humans, Male, Middle Aged, Neurologic Examination, Pedigree, Penetrance, Phenotype.
Abstract
We describe the phenotype of DYT13 primary torsion dystonia (PTD) in a family first examined in 1994. A complete neurological evaluation was performed on all available family members: 8 individuals were definitely affected by dystonia. The family was re‐evaluated in March 2000: at that time, 3 more individuals had developed symptoms of dystonia. Inheritance of PTD was autosomal dominant, with affected individuals spanning three consecutive generations and male‐to‐male transmission. Age at onset ranged from 5 to 43 years. Onset occurred either in the craniocervical region or in upper limbs. Progression was mild, and the disease course was benign in most affected individuals; generalization occurred only in 2 cases. We did not find anticipation of age at onset or of disease severity through generations. Most subjects presented with jerky, myoclonic‐like dystonic movements of the neck or shoulders. DYT13‐PTD is an autosomal dominant disease, with incomplete penetrance (58%). Clinical presentation and age at onset were more variable than in DYT1‐PTD, and the neck was involved in most of those affected. Moreover, the individuals with generalised dystonia were not severely disabled and were able to lead independent lives. To date, this is the only family with DYT13‐PTD. © 2003 Movement Disorder Society
Url:
DOI: 10.1002/mds.10634
Affiliations:
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Valente</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto CSS Mendel, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Neurologia, Università Cattolica, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto Nazionale Neurologico Carlo Besta, Milano</wicri:regionArea><wicri:noRegion>Milano</wicri:noRegion></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="2004-02">2004-02</date><biblScope unit="vol">19</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="200">200</biblScope><biblScope unit="page" to="206">206</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">F767C7FAB4C2B5253F418D7F14D2146FCA14FDF5</idno><idno type="DOI">10.1002/mds.10634</idno><idno type="ArticleID">MDS10634</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Activities of Daily Living (classification)</term><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Child</term><term>Child, Preschool</term><term>Chromosome Aberrations</term><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 1</term><term>DYT13</term><term>Disability Evaluation</term><term>Dystonia</term><term>Dystonia Musculorum Deformans (diagnosis)</term><term>Dystonia Musculorum Deformans (genetics)</term><term>Dystonic Disorders (diagnosis)</term><term>Dystonic Disorders (genetics)</term><term>Female</term><term>Follow-Up Studies</term><term>Genes, Dominant (genetics)</term><term>Histone Acetyltransferases</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Nervous system diseases</term><term>Neurologic Examination</term><term>PTD</term><term>Pedigree</term><term>Penetrance</term><term>Phenotype</term><term>TATA-Binding Protein Associated Factors (genetics)</term><term>Torsion</term><term>Transcription Factor TFIID (genetics)</term><term>family study</term><term>phenotype</term><term>primary torsion dystonia</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>TATA-Binding Protein Associated Factors</term><term>Transcription Factor TFIID</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Histone Acetyltransferases</term></keywords><keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Activities of Daily Living</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonia Musculorum Deformans</term><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia Musculorum Deformans</term><term>Dystonic Disorders</term><term>Genes, Dominant</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Child</term><term>Child, Preschool</term><term>Chromosome Aberrations</term><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 1</term><term>Disability Evaluation</term><term>Female</term><term>Follow-Up Studies</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Pedigree</term><term>Penetrance</term><term>Phenotype</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Système nerveux pathologie</term><term>Torsion</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We describe the phenotype of DYT13 primary torsion dystonia (PTD) in a family first examined in 1994. A complete neurological evaluation was performed on all available family members: 8 individuals were definitely affected by dystonia. The family was re‐evaluated in March 2000: at that time, 3 more individuals had developed symptoms of dystonia. Inheritance of PTD was autosomal dominant, with affected individuals spanning three consecutive generations and male‐to‐male transmission. Age at onset ranged from 5 to 43 years. Onset occurred either in the craniocervical region or in upper limbs. Progression was mild, and the disease course was benign in most affected individuals; generalization occurred only in 2 cases. We did not find anticipation of age at onset or of disease severity through generations. Most subjects presented with jerky, myoclonic‐like dystonic movements of the neck or shoulders. DYT13‐PTD is an autosomal dominant disease, with incomplete penetrance (58%). Clinical presentation and age at onset were more variable than in DYT1‐PTD, and the neck was involved in most of those affected. Moreover, the individuals with generalised dystonia were not severely disabled and were able to lead independent lives. To date, this is the only family with DYT13‐PTD. © 2003 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Italie</li></country><region><li>Latium</li></region><settlement><li>Rome</li></settlement></list><tree><country name="Italie"><region name="Latium"><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name></region><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name><name sortKey="Contarino, M Fiorella" sort="Contarino, M Fiorella" uniqKey="Contarino M" first="M. Fiorella" last="Contarino">M. Fiorella Contarino</name><name sortKey="Ialongo, Tamara" sort="Ialongo, Tamara" uniqKey="Ialongo T" first="Tamara" last="Ialongo">Tamara Ialongo</name><name sortKey="Valente, Enza M" sort="Valente, Enza M" uniqKey="Valente E" first="Enza M." last="Valente">Enza M. Valente</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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