Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families.
Identifieur interne : 002D77 ( Ncbi/Checkpoint ); précédent : 002D76; suivant : 002D78Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families.
Auteurs : Simone Zittel [Allemagne] ; Christian K E. Moll ; Norbert Brüggemann ; Vera Tadic ; Wolfgang Hamel ; Meike Kasten ; Katja Lohmann ; Thora Lohnau ; Susen Winkler ; Christian Gerloff ; Rainer Schönweiler ; Johann Hagenah ; Christine Klein ; Alexander Münchau ; Susanne A. SchneiderSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- Adult, Aged, Apoptosis Regulatory Proteins (genetics), DNA Mutational Analysis, DNA-Binding Proteins (genetics), Dystonic Disorders (diagnosis), Dystonic Disorders (genetics), Dystonic Disorders (physiopathology), Electroencephalography (methods), Electrophysiology, Female, Globus Pallidus (pathology), Globus Pallidus (physiopathology), Humans, Laryngeal Diseases (diagnosis), Laryngeal Diseases (etiology), Male, Microelectrodes, Middle Aged, Mutation (genetics), Nuclear Proteins (genetics), Phenotype, Ultrasonography, Doppler, Transcranial (methods), Voice Disorders (diagnosis), Voice Disorders (etiology).
- MESH :
- chemical , genetics : Apoptosis Regulatory Proteins, DNA-Binding Proteins, Nuclear Proteins.
- diagnosis : Dystonic Disorders, Laryngeal Diseases, Voice Disorders.
- etiology : Laryngeal Diseases, Voice Disorders.
- genetics : Dystonic Disorders, Mutation.
- methods : Electroencephalography, Ultrasonography, Doppler, Transcranial.
- pathology : Globus Pallidus.
- physiopathology : Dystonic Disorders, Globus Pallidus.
- Adult, Aged, DNA Mutational Analysis, Electrophysiology, Female, Humans, Male, Microelectrodes, Middle Aged, Phenotype.
Abstract
The purpose of the study was to delineate clinical and electrophysiological characteristics as well as laryngoscopical and transcranial ultrasound (TCS) findings in THAP1 mutation carriers (MutC). According to recent genetic studies, DYT6 (THAP1) gene mutations are an important cause of primary early-onset dystonia. In contrast to DYT1 mutations, THAP1 mutations are associated with primary early-onset segmental or generalised dystonia frequently involving the craniocervical region and the larynx. Blood samples from twelve individuals of three German families with DYT6 positive index cases were obtained to test for THAP1 mutations. Eight THAP1 MutC were identified. Of these, six (three symptomatic and three asymptomatic) THAP1 MutC could be clinically evaluated. Laryngoscopy was performed to evaluate laryngeal dysfunction in patients. Brainstem echogenicity was investigated in all MutC using TCS. Two of the patients had undergone bilateral pallidal DBS. In all three symptomatic MutC, early-onset laryngeal dystonia was a prominent feature. Laryngeal assessment demonstrated adductor-type dystonia in all of them. On clinical examination, the three asymptomatic MutC also showed subtle signs of focal or segmental dystonia. TCS revealed increased substantia nigra (SN) hyperechogenicity in all MutC. Intraoperative microelectrode recordings under general anesthesia in two of the patients showed no difference between THAP1 and previously operated DYT1 MutC. The presence of spasmodic dysphonia in patients with young-onset segmental or generalised dystonia is a hallmark of DYT6 dystonia. SN hyperechogenicity on TCS may represent an endophenotype in these patients. Pallidal DBS in two patients was unsatisfactory.
DOI: 10.1002/mds.23279
PubMed: 20687193
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 001640
- to stream PubMed, to step Curation: 001640
- to stream PubMed, to step Checkpoint: 001980
- to stream Ncbi, to step Merge: 002D77
- to stream Ncbi, to step Curation: 002D77
Links to Exploration step
pubmed:20687193Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families.</title>
<author><name sortKey="Zittel, Simone" sort="Zittel, Simone" uniqKey="Zittel S" first="Simone" last="Zittel">Simone Zittel</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, University Medical Center Hamburg Eppendorf, Hamburg, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University Medical Center Hamburg Eppendorf, Hamburg</wicri:regionArea>
<placeName><settlement type="city">Hambourg</settlement>
<region type="land" nuts="2">Hambourg</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Moll, Christian K E" sort="Moll, Christian K E" uniqKey="Moll C" first="Christian K E" last="Moll">Christian K E. Moll</name>
</author>
<author><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name>
</author>
<author><name sortKey="Tadic, Vera" sort="Tadic, Vera" uniqKey="Tadic V" first="Vera" last="Tadic">Vera Tadic</name>
</author>
<author><name sortKey="Hamel, Wolfgang" sort="Hamel, Wolfgang" uniqKey="Hamel W" first="Wolfgang" last="Hamel">Wolfgang Hamel</name>
</author>
<author><name sortKey="Kasten, Meike" sort="Kasten, Meike" uniqKey="Kasten M" first="Meike" last="Kasten">Meike Kasten</name>
</author>
<author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name>
</author>
<author><name sortKey="Lohnau, Thora" sort="Lohnau, Thora" uniqKey="Lohnau T" first="Thora" last="Lohnau">Thora Lohnau</name>
</author>
<author><name sortKey="Winkler, Susen" sort="Winkler, Susen" uniqKey="Winkler S" first="Susen" last="Winkler">Susen Winkler</name>
</author>
<author><name sortKey="Gerloff, Christian" sort="Gerloff, Christian" uniqKey="Gerloff C" first="Christian" last="Gerloff">Christian Gerloff</name>
</author>
<author><name sortKey="Schonweiler, Rainer" sort="Schonweiler, Rainer" uniqKey="Schonweiler R" first="Rainer" last="Schönweiler">Rainer Schönweiler</name>
</author>
<author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name>
</author>
<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
</author>
<author><name sortKey="Munchau, Alexander" sort="Munchau, Alexander" uniqKey="Munchau A" first="Alexander" last="Münchau">Alexander Münchau</name>
</author>
<author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A" last="Schneider">Susanne A. Schneider</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2010">2010</date>
<idno type="doi">10.1002/mds.23279</idno>
<idno type="RBID">pubmed:20687193</idno>
<idno type="pmid">20687193</idno>
<idno type="wicri:Area/PubMed/Corpus">001640</idno>
<idno type="wicri:Area/PubMed/Curation">001640</idno>
<idno type="wicri:Area/PubMed/Checkpoint">001980</idno>
<idno type="wicri:Area/Ncbi/Merge">002D77</idno>
<idno type="wicri:Area/Ncbi/Curation">002D77</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">002D77</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families.</title>
<author><name sortKey="Zittel, Simone" sort="Zittel, Simone" uniqKey="Zittel S" first="Simone" last="Zittel">Simone Zittel</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, University Medical Center Hamburg Eppendorf, Hamburg, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University Medical Center Hamburg Eppendorf, Hamburg</wicri:regionArea>
<placeName><settlement type="city">Hambourg</settlement>
<region type="land" nuts="2">Hambourg</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Moll, Christian K E" sort="Moll, Christian K E" uniqKey="Moll C" first="Christian K E" last="Moll">Christian K E. Moll</name>
</author>
<author><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name>
</author>
<author><name sortKey="Tadic, Vera" sort="Tadic, Vera" uniqKey="Tadic V" first="Vera" last="Tadic">Vera Tadic</name>
</author>
<author><name sortKey="Hamel, Wolfgang" sort="Hamel, Wolfgang" uniqKey="Hamel W" first="Wolfgang" last="Hamel">Wolfgang Hamel</name>
</author>
<author><name sortKey="Kasten, Meike" sort="Kasten, Meike" uniqKey="Kasten M" first="Meike" last="Kasten">Meike Kasten</name>
</author>
<author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name>
</author>
<author><name sortKey="Lohnau, Thora" sort="Lohnau, Thora" uniqKey="Lohnau T" first="Thora" last="Lohnau">Thora Lohnau</name>
</author>
<author><name sortKey="Winkler, Susen" sort="Winkler, Susen" uniqKey="Winkler S" first="Susen" last="Winkler">Susen Winkler</name>
</author>
<author><name sortKey="Gerloff, Christian" sort="Gerloff, Christian" uniqKey="Gerloff C" first="Christian" last="Gerloff">Christian Gerloff</name>
</author>
<author><name sortKey="Schonweiler, Rainer" sort="Schonweiler, Rainer" uniqKey="Schonweiler R" first="Rainer" last="Schönweiler">Rainer Schönweiler</name>
</author>
<author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name>
</author>
<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
</author>
<author><name sortKey="Munchau, Alexander" sort="Munchau, Alexander" uniqKey="Munchau A" first="Alexander" last="Münchau">Alexander Münchau</name>
</author>
<author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A" last="Schneider">Susanne A. Schneider</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="2010" type="published">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Apoptosis Regulatory Proteins (genetics)</term>
<term>DNA Mutational Analysis</term>
<term>DNA-Binding Proteins (genetics)</term>
<term>Dystonic Disorders (diagnosis)</term>
<term>Dystonic Disorders (genetics)</term>
<term>Dystonic Disorders (physiopathology)</term>
<term>Electroencephalography (methods)</term>
<term>Electrophysiology</term>
<term>Female</term>
<term>Globus Pallidus (pathology)</term>
<term>Globus Pallidus (physiopathology)</term>
<term>Humans</term>
<term>Laryngeal Diseases (diagnosis)</term>
<term>Laryngeal Diseases (etiology)</term>
<term>Male</term>
<term>Microelectrodes</term>
<term>Middle Aged</term>
<term>Mutation (genetics)</term>
<term>Nuclear Proteins (genetics)</term>
<term>Phenotype</term>
<term>Ultrasonography, Doppler, Transcranial (methods)</term>
<term>Voice Disorders (diagnosis)</term>
<term>Voice Disorders (etiology)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Apoptosis Regulatory Proteins</term>
<term>DNA-Binding Proteins</term>
<term>Nuclear Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonic Disorders</term>
<term>Laryngeal Diseases</term>
<term>Voice Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Laryngeal Diseases</term>
<term>Voice Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term>
<term>Mutation</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Electroencephalography</term>
<term>Ultrasonography, Doppler, Transcranial</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Globus Pallidus</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Dystonic Disorders</term>
<term>Globus Pallidus</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>DNA Mutational Analysis</term>
<term>Electrophysiology</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Microelectrodes</term>
<term>Middle Aged</term>
<term>Phenotype</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">The purpose of the study was to delineate clinical and electrophysiological characteristics as well as laryngoscopical and transcranial ultrasound (TCS) findings in THAP1 mutation carriers (MutC). According to recent genetic studies, DYT6 (THAP1) gene mutations are an important cause of primary early-onset dystonia. In contrast to DYT1 mutations, THAP1 mutations are associated with primary early-onset segmental or generalised dystonia frequently involving the craniocervical region and the larynx. Blood samples from twelve individuals of three German families with DYT6 positive index cases were obtained to test for THAP1 mutations. Eight THAP1 MutC were identified. Of these, six (three symptomatic and three asymptomatic) THAP1 MutC could be clinically evaluated. Laryngoscopy was performed to evaluate laryngeal dysfunction in patients. Brainstem echogenicity was investigated in all MutC using TCS. Two of the patients had undergone bilateral pallidal DBS. In all three symptomatic MutC, early-onset laryngeal dystonia was a prominent feature. Laryngeal assessment demonstrated adductor-type dystonia in all of them. On clinical examination, the three asymptomatic MutC also showed subtle signs of focal or segmental dystonia. TCS revealed increased substantia nigra (SN) hyperechogenicity in all MutC. Intraoperative microelectrode recordings under general anesthesia in two of the patients showed no difference between THAP1 and previously operated DYT1 MutC. The presence of spasmodic dysphonia in patients with young-onset segmental or generalised dystonia is a hallmark of DYT6 dystonia. SN hyperechogenicity on TCS may represent an endophenotype in these patients. Pallidal DBS in two patients was unsatisfactory.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
</country>
<region><li>Hambourg</li>
</region>
<settlement><li>Hambourg</li>
</settlement>
</list>
<tree><noCountry><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name>
<name sortKey="Gerloff, Christian" sort="Gerloff, Christian" uniqKey="Gerloff C" first="Christian" last="Gerloff">Christian Gerloff</name>
<name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name>
<name sortKey="Hamel, Wolfgang" sort="Hamel, Wolfgang" uniqKey="Hamel W" first="Wolfgang" last="Hamel">Wolfgang Hamel</name>
<name sortKey="Kasten, Meike" sort="Kasten, Meike" uniqKey="Kasten M" first="Meike" last="Kasten">Meike Kasten</name>
<name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name>
<name sortKey="Lohnau, Thora" sort="Lohnau, Thora" uniqKey="Lohnau T" first="Thora" last="Lohnau">Thora Lohnau</name>
<name sortKey="Moll, Christian K E" sort="Moll, Christian K E" uniqKey="Moll C" first="Christian K E" last="Moll">Christian K E. Moll</name>
<name sortKey="Munchau, Alexander" sort="Munchau, Alexander" uniqKey="Munchau A" first="Alexander" last="Münchau">Alexander Münchau</name>
<name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A" last="Schneider">Susanne A. Schneider</name>
<name sortKey="Schonweiler, Rainer" sort="Schonweiler, Rainer" uniqKey="Schonweiler R" first="Rainer" last="Schönweiler">Rainer Schönweiler</name>
<name sortKey="Tadic, Vera" sort="Tadic, Vera" uniqKey="Tadic V" first="Vera" last="Tadic">Vera Tadic</name>
<name sortKey="Winkler, Susen" sort="Winkler, Susen" uniqKey="Winkler S" first="Susen" last="Winkler">Susen Winkler</name>
</noCountry>
<country name="Allemagne"><region name="Hambourg"><name sortKey="Zittel, Simone" sort="Zittel, Simone" uniqKey="Zittel S" first="Simone" last="Zittel">Simone Zittel</name>
</region>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002D77 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd -nk 002D77 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Ncbi |étape= Checkpoint |type= RBID |clé= pubmed:20687193 |texte= Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/RBID.i -Sk "pubmed:20687193" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd \ | NlmPubMed2Wicri -a MovDisordV3
This area was generated with Dilib version V0.6.23. |