Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families
Identifieur interne : 001D90 ( Main/Exploration ); précédent : 001D89; suivant : 001D91Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families
Auteurs : Simone Zittel [Allemagne] ; Christian K. E. Moll [Allemagne] ; Norbert Brüggemann [Allemagne] ; Vera Tadic [Allemagne] ; Wolfgang Hamel [Allemagne] ; Meike Kasten [Allemagne] ; Katja Lohmann [Allemagne] ; Thora Lohnau [Allemagne] ; Susen Winkler [Allemagne] ; Christian Gerloff [Allemagne] ; Rainer Schönweiler [Allemagne] ; Johann Hagenah [Allemagne] ; Christine Klein [Allemagne] ; Alexander Münchau [Allemagne] ; Susanne A. Schneider [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2010-10-30.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Aged, Apoptosis Regulatory Proteins (genetics), DNA Mutational Analysis, DNA-Binding Proteins (genetics), Deep brain stimulation, Dystonia, 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), Laryngoscopy, Male, Microelectrodes, Middle Aged, Mutation (genetics), Nervous system diseases, Nuclear Proteins (genetics), Phenotype, THAP1, Ultrasonography, Doppler, Transcranial (methods), Ultrasound, Voice Disorders (diagnosis), Voice Disorders (etiology), deep brain stimulation, laryngoscopy, transcranial ultrasound.
- 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. © 2010 Movement Disorder Society
Url:
DOI: 10.1002/mds.23279
Affiliations:
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Le document en format XML
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<term>DNA Mutational Analysis</term>
<term>DNA-Binding Proteins (genetics)</term>
<term>Deep brain stimulation</term>
<term>Dystonia</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>Laryngoscopy</term>
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<term>Microelectrodes</term>
<term>Middle Aged</term>
<term>Mutation (genetics)</term>
<term>Nervous system diseases</term>
<term>Nuclear Proteins (genetics)</term>
<term>Phenotype</term>
<term>THAP1</term>
<term>Ultrasonography, Doppler, Transcranial (methods)</term>
<term>Ultrasound</term>
<term>Voice Disorders (diagnosis)</term>
<term>Voice Disorders (etiology)</term>
<term>deep brain stimulation</term>
<term>laryngoscopy</term>
<term>transcranial ultrasound</term>
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<term>Voice Disorders</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term>
<term>Mutation</term>
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<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Electroencephalography</term>
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<term>Laryngoscopie</term>
<term>Pathologie du système nerveux</term>
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<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. © 2010 Movement Disorder Society</div>
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<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="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="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>
</country>
</tree>
</affiliations>
</record>
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