MovDisordV3, Main, Exploration, bibRecord, 001D90

Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families

Identifieur interne : 001D90 ( Main/Exploration ); précédent : 001D89; suivant : 001D91

Clinical 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.

RBID : ISTEX:2433B4BAB443B92917544897C31812306FD01015

Descripteurs français

Pascal (Inist)
- Dystonie, Laryngoscopie, Pathologie du système nerveux, Stimulation cérébrale profonde, Ultrason.

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:

https://api.istex.fr/document/2433B4BAB443B92917544897C31812306FD01015/fulltext/pdf

DOI: 10.1002/mds.23279

Affiliations:

Le document en format XML

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<term>Electroencephalography (methods)</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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   |texte=   Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families
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Movement Disorders (revue)

Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families

Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families

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	Movement Disorders (revue)
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