Focal dystonia as a presenting sign of spinocerebellar ataxia 17
Identifieur interne : 003D08 ( Main/Exploration ); précédent : 003D07; suivant : 003D09Focal dystonia as a presenting sign of spinocerebellar ataxia 17
Auteurs : Johann M. Hagenah [Allemagne] ; Christine Zühlke [Allemagne] ; Yorck Hellenbroich [Allemagne] ; Wolfgang Heide [Allemagne] ; Christine Klein [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2004-02.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Atrophy, Brain (pathology), Chromosome Aberrations, Dementia (diagnosis), Dementia (genetics), Diagnosis, Differential, Disease Progression, Dystonia, Dystonic Disorders (diagnosis), Dystonic Disorders (genetics), Female, Follow-Up Studies, Genes, Dominant (genetics), Genotype, Humans, Magnetic Resonance Imaging, Middle Aged, Mutation (genetics), Nerve Tissue Proteins (genetics), Nervous system diseases, Neurologic Examination, Pedigree, Peptides (genetics), Phenotype, SCA17, Spinocerebellar Ataxias (diagnosis), Spinocerebellar Ataxias (genetics), Spinocerebellar Degenerations (diagnosis), Spinocerebellar Degenerations (genetics), Spinocerebellar ataxia, TATA-Box Binding Protein (genetics), TBP gene, Tomography, X-Ray Computed, Torticollis (diagnosis), Torticollis (genetics), Trinucleotide Repeat Expansion (genetics), ataxia, dystonia.
- MESH :
- chemical , genetics : Nerve Tissue Proteins, Peptides, TATA-Box Binding Protein.
- diagnosis : Dementia, Dystonic Disorders, Spinocerebellar Ataxias, Spinocerebellar Degenerations, Torticollis.
- genetics : Dementia, Dystonic Disorders, Genes, Dominant, Mutation, Spinocerebellar Ataxias, Spinocerebellar Degenerations, Torticollis, Trinucleotide Repeat Expansion.
- pathology : Brain.
- Adult, Atrophy, Chromosome Aberrations, Diagnosis, Differential, Disease Progression, Female, Follow-Up Studies, Genotype, Humans, Magnetic Resonance Imaging, Middle Aged, Neurologic Examination, Pedigree, Phenotype, Tomography, X-Ray Computed.
Abstract
We report on the clinical manifestation of spinocerebellar ataxia 17 (SCA17) in 3 members of a German family, in whom the pathological repeat expansion in the TATA‐binding protein gene ranged from 53 to 55 repeats (normal: 29–42). The main clinical features were focal dystonia as presenting sign, followed by cerebellar ataxia, and, in the later course of one case, dementia and marked spasticity with signs of cerebellar and cerebral atrophy on brain computed tomography (CT) scan. In conclusion, SCA17 mutations should be considered in the differential diagnosis of focal dystonia. © 2003 Movement Disorder Society
Url:
DOI: 10.1002/mds.10600
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 001645
- to stream Istex, to step Curation: 001645
- to stream Istex, to step Checkpoint: 002689
- to stream PubMed, to step Corpus: 003547
- to stream PubMed, to step Curation: 003547
- to stream PubMed, to step Checkpoint: 003458
- to stream Ncbi, to step Merge: 000D37
- to stream Ncbi, to step Curation: 000D37
- to stream Ncbi, to step Checkpoint: 000D37
- to stream Main, to step Merge: 005666
- to stream PascalFrancis, to step Corpus: 002156
- to stream PascalFrancis, to step Curation: 000B65
- to stream PascalFrancis, to step Checkpoint: 002149
- to stream Main, to step Merge: 005987
- to stream Main, to step Curation: 003D08
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Focal dystonia as a presenting sign of spinocerebellar ataxia 17</title><author><name sortKey="Hagenah, Johann M" sort="Hagenah, Johann M" uniqKey="Hagenah J" first="Johann M." last="Hagenah">Johann M. Hagenah</name></author><author><name sortKey="Zuhlke, Christine" sort="Zuhlke, Christine" uniqKey="Zuhlke C" first="Christine" last="Zühlke">Christine Zühlke</name></author><author><name sortKey="Hellenbroich, Yorck" sort="Hellenbroich, Yorck" uniqKey="Hellenbroich Y" first="Yorck" last="Hellenbroich">Yorck Hellenbroich</name></author><author><name sortKey="Heide, Wolfgang" sort="Heide, Wolfgang" uniqKey="Heide W" first="Wolfgang" last="Heide">Wolfgang Heide</name></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:566EB9F42EDFA8AAAC0E2F3B9918946409E8C32D</idno><date when="2004" year="2004">2004</date><idno type="doi">10.1002/mds.10600</idno><idno type="url">https://api.istex.fr/document/566EB9F42EDFA8AAAC0E2F3B9918946409E8C32D/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001645</idno><idno type="wicri:Area/Istex/Curation">001645</idno><idno type="wicri:Area/Istex/Checkpoint">002689</idno><idno type="wicri:doubleKey">0885-3185:2004:Hagenah J:focal:dystonia:as</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:14978680</idno><idno type="wicri:Area/PubMed/Corpus">003547</idno><idno type="wicri:Area/PubMed/Curation">003547</idno><idno type="wicri:Area/PubMed/Checkpoint">003458</idno><idno type="wicri:Area/Ncbi/Merge">000D37</idno><idno type="wicri:Area/Ncbi/Curation">000D37</idno><idno type="wicri:Area/Ncbi/Checkpoint">000D37</idno><idno type="wicri:doubleKey">0885-3185:2004:Hagenah J:focal:dystonia:as</idno><idno type="wicri:Area/Main/Merge">005666</idno><idno type="wicri:source">INIST</idno><idno type="RBID">Pascal:04-0366910</idno><idno type="wicri:Area/PascalFrancis/Corpus">002156</idno><idno type="wicri:Area/PascalFrancis/Curation">000B65</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">002149</idno><idno type="wicri:doubleKey">0885-3185:2004:Hagenah J:focal:dystonia:as</idno><idno type="wicri:Area/Main/Merge">005987</idno><idno type="wicri:Area/Main/Curation">003D08</idno><idno type="wicri:Area/Main/Exploration">003D08</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Focal dystonia as a presenting sign of spinocerebellar ataxia 17</title><author><name sortKey="Hagenah, Johann M" sort="Hagenah, Johann M" uniqKey="Hagenah J" first="Johann M." last="Hagenah">Johann M. Hagenah</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Zuhlke, Christine" sort="Zuhlke, Christine" uniqKey="Zuhlke C" first="Christine" last="Zühlke">Christine Zühlke</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Genetics, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Hellenbroich, Yorck" sort="Hellenbroich, Yorck" uniqKey="Hellenbroich Y" first="Yorck" last="Hellenbroich">Yorck Hellenbroich</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Genetics, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Heide, Wolfgang" sort="Heide, Wolfgang" uniqKey="Heide W" first="Wolfgang" last="Heide">Wolfgang Heide</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Genetics, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</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="217">217</biblScope><biblScope unit="page" to="220">220</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">566EB9F42EDFA8AAAC0E2F3B9918946409E8C32D</idno><idno type="DOI">10.1002/mds.10600</idno><idno type="ArticleID">MDS10600</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Atrophy</term><term>Brain (pathology)</term><term>Chromosome Aberrations</term><term>Dementia (diagnosis)</term><term>Dementia (genetics)</term><term>Diagnosis, Differential</term><term>Disease Progression</term><term>Dystonia</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>Genotype</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Nerve Tissue Proteins (genetics)</term><term>Nervous system diseases</term><term>Neurologic Examination</term><term>Pedigree</term><term>Peptides (genetics)</term><term>Phenotype</term><term>SCA17</term><term>Spinocerebellar Ataxias (diagnosis)</term><term>Spinocerebellar Ataxias (genetics)</term><term>Spinocerebellar Degenerations (diagnosis)</term><term>Spinocerebellar Degenerations (genetics)</term><term>Spinocerebellar ataxia</term><term>TATA-Box Binding Protein (genetics)</term><term>TBP gene</term><term>Tomography, X-Ray Computed</term><term>Torticollis (diagnosis)</term><term>Torticollis (genetics)</term><term>Trinucleotide Repeat Expansion (genetics)</term><term>ataxia</term><term>dystonia</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term><term>Peptides</term><term>TATA-Box Binding Protein</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dementia</term><term>Dystonic Disorders</term><term>Spinocerebellar Ataxias</term><term>Spinocerebellar Degenerations</term><term>Torticollis</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dementia</term><term>Dystonic Disorders</term><term>Genes, Dominant</term><term>Mutation</term><term>Spinocerebellar Ataxias</term><term>Spinocerebellar Degenerations</term><term>Torticollis</term><term>Trinucleotide Repeat Expansion</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Atrophy</term><term>Chromosome Aberrations</term><term>Diagnosis, Differential</term><term>Disease Progression</term><term>Female</term><term>Follow-Up Studies</term><term>Genotype</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Pedigree</term><term>Phenotype</term><term>Tomography, X-Ray Computed</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Ataxie spinocérébelleuse</term><term>Dystonie</term><term>Système nerveux pathologie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report on the clinical manifestation of spinocerebellar ataxia 17 (SCA17) in 3 members of a German family, in whom the pathological repeat expansion in the TATA‐binding protein gene ranged from 53 to 55 repeats (normal: 29–42). The main clinical features were focal dystonia as presenting sign, followed by cerebellar ataxia, and, in the later course of one case, dementia and marked spasticity with signs of cerebellar and cerebral atrophy on brain computed tomography (CT) scan. In conclusion, SCA17 mutations should be considered in the differential diagnosis of focal dystonia. © 2003 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li></country></list><tree><country name="Allemagne"><noRegion><name sortKey="Hagenah, Johann M" sort="Hagenah, Johann M" uniqKey="Hagenah J" first="Johann M." last="Hagenah">Johann M. Hagenah</name></noRegion><name sortKey="Heide, Wolfgang" sort="Heide, Wolfgang" uniqKey="Heide W" first="Wolfgang" last="Heide">Wolfgang Heide</name><name sortKey="Hellenbroich, Yorck" sort="Hellenbroich, Yorck" uniqKey="Hellenbroich Y" first="Yorck" last="Hellenbroich">Yorck Hellenbroich</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Zuhlke, Christine" sort="Zuhlke, Christine" uniqKey="Zuhlke C" first="Christine" last="Zühlke">Christine Zühlke</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003D08 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 003D08 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:566EB9F42EDFA8AAAC0E2F3B9918946409E8C32D
|texte= Focal dystonia as a presenting sign of spinocerebellar ataxia 17
}}
| This area was generated with Dilib version V0.6.23. |  |